dbSNP Short Genetic Variations
Welcome to the Reference SNP (rs) Report
All alleles are reported in the Forward orientation. Click on the Variant Details tab for details on Genomic Placement, Gene, and Amino Acid changes. HGVS names are in the HGVS tab.
Reference SNP (rs) Report
This page reports data for a single dbSNP Reference SNP variation (RefSNP or rs) from the new redesigned dbSNP build.
Top of the page reports a concise summary for the rs, with more specific details included in the corresponding tabs below.
All alleles are reported in the Forward orientation. Use the Genomic View to inspect the nucleotides flanking the variant, and its neighbors.
For more information see Help documentation.
rs3087243
Current Build 156
Released September 21, 2022
- Organism
- Homo sapiens
- Position
-
chr2:203874196 (GRCh38.p14) Help
The anchor position for this RefSNP. Includes all nucleotides potentially affected by this change, thus it can differ from HGVS, which is right-shifted. See here for details.
- Alleles
- G>A / G>T
- Variation Type
- SNV Single Nucleotide Variation
- Frequency
-
A=0.436604 (119220/273062, ALFA)A=0.365662 (96787/264690, TOPMED)A=0.361227 (50579/140020, GnomAD) (+ 21 more)
- Clinical Significance
- Reported in ClinVar
- Gene : Consequence
- CTLA4 : 500B Downstream Variant
- Publications
- 212 citations
- Genomic View
- See rs on genome
ALFA Allele Frequency
The ALFA project provide aggregate allele frequency from dbGaP. More information is available on the project page including descriptions, data access, and terms of use.
Population | Group | Sample Size | Ref Allele | Alt Allele |
---|---|---|---|---|
Total | Global | 273276 | G=0.563350 | A=0.436650, T=0.000000 |
European | Sub | 234238 | G=0.546124 | A=0.453876, T=0.000000 |
African | Sub | 10012 | G=0.78196 | A=0.21804, T=0.00000 |
African Others | Sub | 348 | G=0.851 | A=0.149, T=0.000 |
African American | Sub | 9664 | G=0.7795 | A=0.2205, T=0.0000 |
Asian | Sub | 6842 | G=0.7887 | A=0.2113, T=0.0000 |
East Asian | Sub | 4890 | G=0.8188 | A=0.1812, T=0.0000 |
Other Asian | Sub | 1952 | G=0.7131 | A=0.2869, T=0.0000 |
Latin American 1 | Sub | 1114 | G=0.5889 | A=0.4111, T=0.0000 |
Latin American 2 | Sub | 4686 | G=0.5817 | A=0.4183, T=0.0000 |
South Asian | Sub | 380 | G=0.405 | A=0.595, T=0.000 |
Other | Sub | 16004 | G=0.57898 | A=0.42102, T=0.00000 |
Frequency tab displays a table of the reference and alternate allele frequencies reported by various studies and populations. Table lines, where Population="Global" refer to the entire study population, whereas lines, where Group="Sub", refer to a study-specific population subgroupings (i.e. AFR, CAU, etc.), if available. Frequency for the alternate allele (Alt Allele) is a ratio of samples observed-to-total, where the numerator (observed samples) is the number of chromosomes in the study with the minor allele present (found in "Sample size", where Group="Sub"), and the denominator (total samples) is the total number of all chromosomes in the study for the variant (found in "Sample size", where Group="Study-wide" and Population="Global").
DownloadStudy | Population | Group | Sample Size | Ref Allele | Alt Allele |
---|---|---|---|---|---|
Allele Frequency Aggregator | Total | Global | 273062 | G=0.563396 | A=0.436604, T=0.000000 |
Allele Frequency Aggregator | European | Sub | 234060 | G=0.546168 | A=0.453832, T=0.000000 |
Allele Frequency Aggregator | Other | Sub | 15982 | G=0.57915 | A=0.42085, T=0.00000 |
Allele Frequency Aggregator | African | Sub | 9998 | G=0.7820 | A=0.2180, T=0.0000 |
Allele Frequency Aggregator | Asian | Sub | 6842 | G=0.7887 | A=0.2113, T=0.0000 |
Allele Frequency Aggregator | Latin American 2 | Sub | 4686 | G=0.5817 | A=0.4183, T=0.0000 |
Allele Frequency Aggregator | Latin American 1 | Sub | 1114 | G=0.5889 | A=0.4111, T=0.0000 |
Allele Frequency Aggregator | South Asian | Sub | 380 | G=0.405 | A=0.595, T=0.000 |
TopMed | Global | Study-wide | 264690 | G=0.634338 | A=0.365662 |
gnomAD - Genomes | Global | Study-wide | 140020 | G=0.638773 | A=0.361227 |
gnomAD - Genomes | European | Sub | 75856 | G=0.57871 | A=0.42129 |
gnomAD - Genomes | African | Sub | 41932 | G=0.76953 | A=0.23047 |
gnomAD - Genomes | American | Sub | 13634 | G=0.58479 | A=0.41521 |
gnomAD - Genomes | Ashkenazi Jewish | Sub | 3324 | G=0.4991 | A=0.5009 |
gnomAD - Genomes | East Asian | Sub | 3122 | G=0.7566 | A=0.2434 |
gnomAD - Genomes | Other | Sub | 2152 | G=0.5948 | A=0.4052 |
The PAGE Study | Global | Study-wide | 78698 | G=0.67000 | A=0.33000 |
The PAGE Study | AfricanAmerican | Sub | 32514 | G=0.76672 | A=0.23328 |
The PAGE Study | Mexican | Sub | 10810 | G=0.56189 | A=0.43811 |
The PAGE Study | Asian | Sub | 8318 | G=0.7123 | A=0.2877 |
The PAGE Study | PuertoRican | Sub | 7916 | G=0.6205 | A=0.3795 |
The PAGE Study | NativeHawaiian | Sub | 4534 | G=0.5201 | A=0.4799 |
The PAGE Study | Cuban | Sub | 4230 | G=0.5485 | A=0.4515 |
The PAGE Study | Dominican | Sub | 3828 | G=0.6272 | A=0.3728 |
The PAGE Study | CentralAmerican | Sub | 2450 | G=0.6286 | A=0.3714 |
The PAGE Study | SouthAmerican | Sub | 1982 | G=0.5757 | A=0.4243 |
The PAGE Study | NativeAmerican | Sub | 1260 | G=0.6040 | A=0.3960 |
The PAGE Study | SouthAsian | Sub | 856 | G=0.429 | A=0.571 |
14KJPN | JAPANESE | Study-wide | 28256 | G=0.72951 | A=0.27049 |
8.3KJPN | JAPANESE | Study-wide | 16760 | G=0.72834 | A=0.27166 |
1000Genomes_30x | Global | Study-wide | 6404 | G=0.6382 | A=0.3618 |
1000Genomes_30x | African | Sub | 1786 | G=0.8259 | A=0.1741 |
1000Genomes_30x | Europe | Sub | 1266 | G=0.5324 | A=0.4676 |
1000Genomes_30x | South Asian | Sub | 1202 | G=0.3760 | A=0.6240 |
1000Genomes_30x | East Asian | Sub | 1170 | G=0.7436 | A=0.2564 |
1000Genomes_30x | American | Sub | 980 | G=0.629 | A=0.371 |
1000Genomes | Global | Study-wide | 5008 | G=0.6310 | A=0.3690 |
1000Genomes | African | Sub | 1322 | G=0.8238 | A=0.1762 |
1000Genomes | East Asian | Sub | 1008 | G=0.7371 | A=0.2629 |
1000Genomes | Europe | Sub | 1006 | G=0.5298 | A=0.4702 |
1000Genomes | South Asian | Sub | 978 | G=0.373 | A=0.627 |
1000Genomes | American | Sub | 694 | G=0.620 | A=0.380 |
Genetic variation in the Estonian population | Estonian | Study-wide | 4480 | G=0.6138 | A=0.3862 |
The Avon Longitudinal Study of Parents and Children | PARENT AND CHILD COHORT | Study-wide | 3854 | G=0.5496 | A=0.4504 |
UK 10K study - Twins | TWIN COHORT | Study-wide | 3708 | G=0.5448 | A=0.4552 |
KOREAN population from KRGDB | KOREAN | Study-wide | 2922 | G=0.8306 | A=0.1694 |
HapMap | Global | Study-wide | 1892 | G=0.6945 | A=0.3055 |
HapMap | American | Sub | 770 | G=0.584 | A=0.416 |
HapMap | African | Sub | 692 | G=0.850 | A=0.150 |
HapMap | Asian | Sub | 254 | G=0.756 | A=0.244 |
HapMap | Europe | Sub | 176 | G=0.477 | A=0.523 |
Korean Genome Project | KOREAN | Study-wide | 1832 | G=0.8373 | A=0.1627 |
Genome-wide autozygosity in Daghestan | Global | Study-wide | 1136 | G=0.4736 | A=0.5264 |
Genome-wide autozygosity in Daghestan | Daghestan | Sub | 628 | G=0.465 | A=0.535 |
Genome-wide autozygosity in Daghestan | Near_East | Sub | 144 | G=0.403 | A=0.597 |
Genome-wide autozygosity in Daghestan | Central Asia | Sub | 122 | G=0.557 | A=0.443 |
Genome-wide autozygosity in Daghestan | Europe | Sub | 108 | G=0.574 | A=0.426 |
Genome-wide autozygosity in Daghestan | South Asian | Sub | 98 | G=0.48 | A=0.52 |
Genome-wide autozygosity in Daghestan | Caucasus | Sub | 36 | G=0.31 | A=0.69 |
Genome of the Netherlands Release 5 | Genome of the Netherlands | Study-wide | 998 | G=0.543 | A=0.457 |
CNV burdens in cranial meningiomas | Global | Study-wide | 788 | G=0.826 | A=0.174 |
CNV burdens in cranial meningiomas | CRM | Sub | 788 | G=0.826 | A=0.174 |
Northern Sweden | ACPOP | Study-wide | 600 | G=0.625 | A=0.375 |
SGDP_PRJ | Global | Study-wide | 330 | G=0.342 | A=0.658 |
Qatari | Global | Study-wide | 216 | G=0.454 | A=0.546 |
A Vietnamese Genetic Variation Database | Global | Study-wide | 212 | G=0.693 | A=0.307 |
The Danish reference pan genome | Danish | Study-wide | 40 | G=0.60 | A=0.40 |
Siberian | Global | Study-wide | 22 | G=0.45 | A=0.55 |
Ancient Sardinia genome-wide 1240k capture data generation and analysis | Global | Study-wide | 18 | G=0.33 | A=0.67 |
Variant Details tab shows known variant placements on genomic sequences: chromosomes (NC_), RefSeqGene, pseudogenes or genomic regions (NG_), and in a separate table: on transcripts (NM_) and protein sequences (NP_). The corresponding transcript and protein locations are listed in adjacent lines, along with molecular consequences from Sequence Ontology. When no protein placement is available, only the transcript is listed. Column "Codon[Amino acid]" shows the actual base change in the format of "Reference > Alternate" allele, including the nucleotide codon change in transcripts, and the amino acid change in proteins, respectively, allowing for known ribosomal slippage sites. To view nucleotides adjacent to the variant use the Genomic View at the bottom of the page - zoom into the sequence until the nucleotides around the variant become visible.
Sequence name | Change |
---|---|
GRCh38.p14 chr 2 | NC_000002.12:g.203874196G>A |
GRCh38.p14 chr 2 | NC_000002.12:g.203874196G>T |
GRCh37.p13 chr 2 | NC_000002.11:g.204738919G>A |
GRCh37.p13 chr 2 | NC_000002.11:g.204738919G>T |
CTLA4 RefSeqGene (LRG_1220) | NG_011502.1:g.11411G>A |
CTLA4 RefSeqGene (LRG_1220) | NG_011502.1:g.11411G>T |
Molecule type | Change | Amino acid[Codon] | SO Term |
---|---|---|---|
CTLA4 transcript variant 2 | NM_001037631.3:c. | N/A | Downstream Transcript Variant |
CTLA4 transcript variant 1 | NM_005214.5:c. | N/A | Downstream Transcript Variant |
Clinical Significance tab shows a list of clinical significance entries from ClinVar associated with the variation, per allele. Click on the RCV accession (i.e. RCV000001615.2) or Allele ID (i.e. 12274) to access full ClinVar report.
ClinVar Accession | Disease Names | Clinical Significance |
---|---|---|
RCV000018429.1 | Hashimoto thyroiditis, susceptibility to | Risk-Factor |
RCV000018430.5 | Celiac disease, susceptibility to, 3 | Risk-Factor |
RCV001254798.2 | chronic fatigue syndrome with infection-triggered onset | Protective |
RCV001515646.3 | Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsuffiency | Benign |
Aliases tab displays HGVS names representing the variant placements and allele changes on genomic, transcript and protein sequences, per allele. HGVS name is an expression for reporting sequence accession and version, sequence type, position, and allele change. The column "Note" can have two values: "diff" means that there is a difference between the reference allele (variation interval) at the placement reported in HGVS name and the reference alleles reported in other HGVS names, and "rev" means that the sequence of this variation interval at the placement reported in HGVS name is in reverse orientation to the sequence(s) of this variation in other HGVS names not labeled as "rev".
Placement | G= | A | T |
---|---|---|---|
GRCh38.p14 chr 2 | NC_000002.12:g.203874196= | NC_000002.12:g.203874196G>A | NC_000002.12:g.203874196G>T |
GRCh37.p13 chr 2 | NC_000002.11:g.204738919= | NC_000002.11:g.204738919G>A | NC_000002.11:g.204738919G>T |
CTLA4 RefSeqGene (LRG_1220) | NG_011502.1:g.11411= | NG_011502.1:g.11411G>A | NG_011502.1:g.11411G>T |
Submissions tab displays variations originally submitted to dbSNP, now supporting this RefSNP cluster (rs). We display Submitter handle, Submission identifier, Date and Build number, when the submission appeared for the first time. Direct submissions to dbSNP have Submission ID in the form of an ss-prefixed number (ss#). Other supporting variations are listed in the table without ss#.
No | Submitter | Submission ID | Date (Build) |
---|---|---|---|
1 | FHCRC | ss4318740 | Jan 05, 2002 (102) |
2 | JDRF_WT_DIL | ss16343657 | Feb 27, 2004 (120) |
3 | ABI | ss44315036 | Mar 13, 2006 (126) |
4 | SNP500CANCER | ss48293461 | Mar 13, 2006 (126) |
5 | AFFY | ss66079983 | Nov 30, 2006 (127) |
6 | AFFY | ss76019754 | Dec 08, 2007 (130) |
7 | KRIBB_YJKIM | ss81930522 | Dec 14, 2007 (130) |
8 | HGSV | ss83655529 | Dec 14, 2007 (130) |
9 | HUMANGENOME_JCVI | ss97114049 | Feb 04, 2009 (130) |
10 | BGI | ss103661233 | Dec 01, 2009 (131) |
11 | 1000GENOMES | ss110606444 | Jan 25, 2009 (130) |
12 | WTCCC | ss120254415 | Dec 01, 2009 (131) |
13 | ENSEMBL | ss139927002 | Dec 01, 2009 (131) |
14 | ILLUMINA | ss160608721 | Dec 01, 2009 (131) |
15 | COMPLETE_GENOMICS | ss165840550 | Jul 04, 2010 (132) |
16 | AFFY | ss170499862 | Jul 04, 2010 (132) |
17 | BUSHMAN | ss201621694 | Jul 04, 2010 (132) |
18 | BCM-HGSC-SUB | ss205828043 | Jul 04, 2010 (132) |
19 | 1000GENOMES | ss219762014 | Jul 14, 2010 (132) |
20 | 1000GENOMES | ss231550392 | Jul 14, 2010 (132) |
21 | 1000GENOMES | ss239019961 | Jul 15, 2010 (132) |
22 | ILLUMINA | ss244293534 | Jul 04, 2010 (132) |
23 | BL | ss253824254 | May 09, 2011 (134) |
24 | GMI | ss276866030 | May 04, 2012 (137) |
25 | PJP | ss292470245 | May 09, 2011 (134) |
26 | ILLUMINA | ss410928037 | Sep 17, 2011 (135) |
27 | ILLUMINA | ss480747200 | May 04, 2012 (137) |
28 | ILLUMINA | ss480763079 | May 04, 2012 (137) |
29 | ILLUMINA | ss481649285 | Sep 08, 2015 (146) |
30 | ILLUMINA | ss485168379 | May 04, 2012 (137) |
31 | EXOME_CHIP | ss491330048 | May 04, 2012 (137) |
32 | ILLUMINA | ss537159729 | Sep 08, 2015 (146) |
33 | TISHKOFF | ss556162565 | Apr 25, 2013 (138) |
34 | SSMP | ss649829304 | Apr 25, 2013 (138) |
35 | ILLUMINA | ss778515281 | Sep 08, 2015 (146) |
36 | ILLUMINA | ss780684157 | Sep 08, 2015 (146) |
37 | ILLUMINA | ss783030400 | Sep 08, 2015 (146) |
38 | ILLUMINA | ss783357588 | Sep 08, 2015 (146) |
39 | ILLUMINA | ss783990103 | Sep 08, 2015 (146) |
40 | ILLUMINA | ss832288016 | Sep 08, 2015 (146) |
41 | ILLUMINA | ss833971594 | Sep 08, 2015 (146) |
42 | EVA-GONL | ss977865114 | Aug 21, 2014 (142) |
43 | JMKIDD_LAB | ss1069868620 | Aug 21, 2014 (142) |
44 | 1000GENOMES | ss1301286360 | Aug 21, 2014 (142) |
45 | HAMMER_LAB | ss1397317537 | Sep 08, 2015 (146) |
46 | DDI | ss1428882722 | Apr 01, 2015 (144) |
47 | EVA_GENOME_DK | ss1579284674 | Apr 01, 2015 (144) |
48 | EVA_DECODE | ss1587317315 | Apr 01, 2015 (144) |
49 | EVA_UK10K_ALSPAC | ss1605600452 | Apr 01, 2015 (144) |
50 | EVA_UK10K_TWINSUK | ss1648594485 | Apr 01, 2015 (144) |
51 | EVA_SVP | ss1712523999 | Apr 01, 2015 (144) |
52 | ILLUMINA | ss1752334027 | Sep 08, 2015 (146) |
53 | ILLUMINA | ss1752334028 | Sep 08, 2015 (146) |
54 | HAMMER_LAB | ss1798216445 | Sep 08, 2015 (146) |
55 | ILLUMINA | ss1917758759 | Feb 12, 2016 (147) |
56 | WEILL_CORNELL_DGM | ss1921111733 | Feb 12, 2016 (147) |
57 | ILLUMINA | ss1946063985 | Feb 12, 2016 (147) |
58 | ILLUMINA | ss1958496544 | Feb 12, 2016 (147) |
59 | GENOMED | ss1969002602 | Jul 19, 2016 (147) |
60 | JJLAB | ss2021098287 | Sep 14, 2016 (149) |
61 | ILLUMINA | ss2094914916 | Dec 20, 2016 (150) |
62 | ILLUMINA | ss2095108181 | Dec 20, 2016 (150) |
63 | ILLUMINA | ss2095108182 | Dec 20, 2016 (150) |
64 | USC_VALOUEV | ss2149163761 | Dec 20, 2016 (150) |
65 | HUMAN_LONGEVITY | ss2238400825 | Dec 20, 2016 (150) |
66 | ILLUMINA | ss2633728513 | Nov 08, 2017 (151) |
67 | ILLUMINA | ss2633728514 | Nov 08, 2017 (151) |
68 | ILLUMINA | ss2633728515 | Nov 08, 2017 (151) |
69 | ILLUMINA | ss2635100164 | Nov 08, 2017 (151) |
70 | GRF | ss2703811296 | Nov 08, 2017 (151) |
71 | GNOMAD | ss2785312496 | Nov 08, 2017 (151) |
72 | AFFY | ss2985197275 | Nov 08, 2017 (151) |
73 | AFFY | ss2985817626 | Nov 08, 2017 (151) |
74 | SWEGEN | ss2991212392 | Nov 08, 2017 (151) |
75 | ILLUMINA | ss3022060080 | Nov 08, 2017 (151) |
76 | BIOINF_KMB_FNS_UNIBA | ss3024308049 | Nov 08, 2017 (151) |
77 | CSHL | ss3344699714 | Nov 08, 2017 (151) |
78 | ILLUMINA | ss3628266292 | Oct 11, 2018 (152) |
79 | ILLUMINA | ss3628266293 | Oct 11, 2018 (152) |
80 | ILLUMINA | ss3631688927 | Oct 11, 2018 (152) |
81 | ILLUMINA | ss3633231347 | Oct 11, 2018 (152) |
82 | ILLUMINA | ss3633944405 | Oct 11, 2018 (152) |
83 | ILLUMINA | ss3634807961 | Oct 11, 2018 (152) |
84 | ILLUMINA | ss3634807962 | Oct 11, 2018 (152) |
85 | ILLUMINA | ss3635629896 | Oct 11, 2018 (152) |
86 | ILLUMINA | ss3636497378 | Oct 11, 2018 (152) |
87 | ILLUMINA | ss3637381910 | Oct 11, 2018 (152) |
88 | ILLUMINA | ss3640515260 | Oct 11, 2018 (152) |
89 | ILLUMINA | ss3640515261 | Oct 11, 2018 (152) |
90 | ILLUMINA | ss3644766648 | Oct 11, 2018 (152) |
91 | URBANLAB | ss3647253310 | Oct 11, 2018 (152) |
92 | ILLUMINA | ss3652509613 | Oct 11, 2018 (152) |
93 | ILLUMINA | ss3652509614 | Oct 11, 2018 (152) |
94 | ILLUMINA | ss3652509615 | Oct 11, 2018 (152) |
95 | ILLUMINA | ss3653964782 | Oct 11, 2018 (152) |
96 | EGCUT_WGS | ss3659101368 | Jul 13, 2019 (153) |
97 | EVA_DECODE | ss3705846350 | Jul 13, 2019 (153) |
98 | ILLUMINA | ss3725863833 | Jul 13, 2019 (153) |
99 | ACPOP | ss3729292807 | Jul 13, 2019 (153) |
100 | ILLUMINA | ss3744485965 | Jul 13, 2019 (153) |
101 | ILLUMINA | ss3745107796 | Jul 13, 2019 (153) |
102 | ILLUMINA | ss3745107797 | Jul 13, 2019 (153) |
103 | EVA | ss3757976605 | Jul 13, 2019 (153) |
104 | PAGE_CC | ss3770979123 | Jul 13, 2019 (153) |
105 | ILLUMINA | ss3772604332 | Jul 13, 2019 (153) |
106 | ILLUMINA | ss3772604333 | Jul 13, 2019 (153) |
107 | PACBIO | ss3784128131 | Jul 13, 2019 (153) |
108 | PACBIO | ss3789669952 | Jul 13, 2019 (153) |
109 | PACBIO | ss3794543118 | Jul 13, 2019 (153) |
110 | KHV_HUMAN_GENOMES | ss3802335566 | Jul 13, 2019 (153) |
111 | EVA | ss3827459243 | Apr 25, 2020 (154) |
112 | EVA | ss3837148932 | Apr 25, 2020 (154) |
113 | EVA | ss3842570171 | Apr 25, 2020 (154) |
114 | SGDP_PRJ | ss3854408486 | Apr 25, 2020 (154) |
115 | KRGDB | ss3900109573 | Apr 25, 2020 (154) |
116 | KOGIC | ss3949913350 | Apr 25, 2020 (154) |
117 | EVA | ss3984496510 | Apr 26, 2021 (155) |
118 | EVA | ss3984948085 | Apr 26, 2021 (155) |
119 | EVA | ss4017044821 | Apr 26, 2021 (155) |
120 | TOPMED | ss4541499304 | Apr 26, 2021 (155) |
121 | TOMMO_GENOMICS | ss5156098204 | Apr 26, 2021 (155) |
122 | EVA | ss5237310297 | Apr 26, 2021 (155) |
123 | 1000G_HIGH_COVERAGE | ss5251720268 | Oct 12, 2022 (156) |
124 | WANGWT | ss5314461038 | Oct 12, 2022 (156) |
125 | EVA | ss5314801721 | Oct 12, 2022 (156) |
126 | EVA | ss5335463736 | Oct 12, 2022 (156) |
127 | HUGCELL_USP | ss5451363173 | Oct 12, 2022 (156) |
128 | 1000G_HIGH_COVERAGE | ss5528907025 | Oct 12, 2022 (156) |
129 | SANFORD_IMAGENETICS | ss5624469404 | Oct 12, 2022 (156) |
130 | SANFORD_IMAGENETICS | ss5630775695 | Oct 12, 2022 (156) |
131 | TOMMO_GENOMICS | ss5686866596 | Oct 12, 2022 (156) |
132 | WANGWT | ss5799401631 | Oct 12, 2022 (156) |
133 | EVA | ss5799557731 | Oct 12, 2022 (156) |
134 | YY_MCH | ss5803148046 | Oct 12, 2022 (156) |
135 | EVA | ss5821467296 | Oct 12, 2022 (156) |
136 | WANGWT | ss5847150658 | Oct 12, 2022 (156) |
137 | WANGWT | ss5847150699 | Oct 12, 2022 (156) |
138 | EVA | ss5847203585 | Oct 12, 2022 (156) |
139 | EVA | ss5847899448 | Oct 12, 2022 (156) |
140 | EVA | ss5852916611 | Oct 12, 2022 (156) |
141 | EVA | ss5934345303 | Oct 12, 2022 (156) |
142 | EVA | ss5957021653 | Oct 12, 2022 (156) |
143 | EVA | ss5979596712 | Oct 12, 2022 (156) |
144 | 1000Genomes | NC_000002.11 - 204738919 | Oct 11, 2018 (152) |
145 | 1000Genomes_30x | NC_000002.12 - 203874196 | Oct 12, 2022 (156) |
146 | The Avon Longitudinal Study of Parents and Children | NC_000002.11 - 204738919 | Oct 11, 2018 (152) |
147 | Genome-wide autozygosity in Daghestan | NC_000002.10 - 204447164 | Apr 25, 2020 (154) |
148 | Genetic variation in the Estonian population | NC_000002.11 - 204738919 | Oct 11, 2018 (152) |
149 | The Danish reference pan genome | NC_000002.11 - 204738919 | Apr 25, 2020 (154) |
150 | gnomAD - Genomes | NC_000002.12 - 203874196 | Apr 26, 2021 (155) |
151 | Genome of the Netherlands Release 5 | NC_000002.11 - 204738919 | Apr 25, 2020 (154) |
152 | HapMap | NC_000002.12 - 203874196 | Apr 25, 2020 (154) |
153 | KOREAN population from KRGDB | NC_000002.11 - 204738919 | Apr 25, 2020 (154) |
154 | Korean Genome Project | NC_000002.12 - 203874196 | Apr 25, 2020 (154) |
155 | Northern Sweden | NC_000002.11 - 204738919 | Jul 13, 2019 (153) |
156 | The PAGE Study | NC_000002.12 - 203874196 | Jul 13, 2019 (153) |
157 | Ancient Sardinia genome-wide 1240k capture data generation and analysis | NC_000002.11 - 204738919 | Apr 26, 2021 (155) |
158 | CNV burdens in cranial meningiomas | NC_000002.11 - 204738919 | Apr 26, 2021 (155) |
159 | Qatari | NC_000002.11 - 204738919 | Apr 25, 2020 (154) |
160 | SGDP_PRJ | NC_000002.11 - 204738919 | Apr 25, 2020 (154) |
161 | Siberian | NC_000002.11 - 204738919 | Apr 25, 2020 (154) |
162 | 8.3KJPN | NC_000002.11 - 204738919 | Apr 26, 2021 (155) |
163 | 14KJPN | NC_000002.12 - 203874196 | Oct 12, 2022 (156) |
164 | TopMed | NC_000002.12 - 203874196 | Apr 26, 2021 (155) |
165 | UK 10K study - Twins | NC_000002.11 - 204738919 | Oct 11, 2018 (152) |
166 | A Vietnamese Genetic Variation Database | NC_000002.11 - 204738919 | Jul 13, 2019 (153) |
167 | ALFA | NC_000002.12 - 203874196 | Apr 26, 2021 (155) |
168 | ClinVar | RCV000018429.1 | Oct 11, 2018 (152) |
169 | ClinVar | RCV000018430.5 | Apr 26, 2021 (155) |
170 | ClinVar | RCV001254798.2 | Oct 12, 2022 (156) |
171 | ClinVar | RCV001515646.3 | Oct 12, 2022 (156) |
History tab displays RefSNPs (Associated ID) from previous builds (Build) that now support the current RefSNP, and the dates, when the history was updated for each Associated ID (History Updated).
Associated ID | History Updated (Build) |
---|---|
rs56520936 | May 24, 2008 (130) |
rs57552006 | Feb 26, 2009 (130) |
rs57994510 | May 24, 2008 (130) |
Submission IDs | Observation SPDI | Canonical SPDI | Source RSIDs |
---|---|---|---|
ss83655529 | NC_000002.9:204564424:G:A | NC_000002.12:203874195:G:A | (self) |
267350, ss110606444, ss165840550, ss201621694, ss205828043, ss253824254, ss276866030, ss292470245, ss480747200, ss1397317537, ss1587317315, ss1712523999, ss2094914916, ss2635100164 | NC_000002.10:204447163:G:A | NC_000002.12:203874195:G:A | (self) |
12378058, 6838992, 4839616, 5449613, 2999778, 7286967, 2577672, 174012, 45846, 3153663, 6425466, 1680115, 14067511, 6838992, 1489219, ss219762014, ss231550392, ss239019961, ss480763079, ss481649285, ss485168379, ss491330048, ss537159729, ss556162565, ss649829304, ss778515281, ss780684157, ss783030400, ss783357588, ss783990103, ss832288016, ss833971594, ss977865114, ss1069868620, ss1301286360, ss1428882722, ss1579284674, ss1605600452, ss1648594485, ss1752334027, ss1752334028, ss1798216445, ss1917758759, ss1921111733, ss1946063985, ss1958496544, ss1969002602, ss2021098287, ss2095108181, ss2095108182, ss2149163761, ss2633728513, ss2633728514, ss2633728515, ss2703811296, ss2785312496, ss2985197275, ss2985817626, ss2991212392, ss3022060080, ss3344699714, ss3628266292, ss3628266293, ss3631688927, ss3633231347, ss3633944405, ss3634807961, ss3634807962, ss3635629896, ss3636497378, ss3637381910, ss3640515260, ss3640515261, ss3644766648, ss3652509613, ss3652509614, ss3652509615, ss3653964782, ss3659101368, ss3729292807, ss3744485965, ss3745107796, ss3745107797, ss3757976605, ss3772604332, ss3772604333, ss3784128131, ss3789669952, ss3794543118, ss3827459243, ss3837148932, ss3854408486, ss3900109573, ss3984496510, ss3984948085, ss4017044821, ss5156098204, ss5237310297, ss5314801721, ss5335463736, ss5624469404, ss5630775695, ss5799557731, ss5821467296, ss5847203585, ss5847899448, ss5957021653, ss5979596712 | NC_000002.11:204738918:G:A | NC_000002.12:203874195:G:A | (self) |
RCV000018429.1, RCV000018430.5, RCV001254798.2, RCV001515646.3, 16432960, 88305584, 1992506, 6291351, 200592, 20703700, 345322183, 10387341166, ss2238400825, ss3024308049, ss3647253310, ss3705846350, ss3725863833, ss3770979123, ss3802335566, ss3842570171, ss3949913350, ss4541499304, ss5251720268, ss5314461038, ss5451363173, ss5528907025, ss5686866596, ss5799401631, ss5803148046, ss5847150658, ss5847150699, ss5852916611, ss5934345303 | NC_000002.12:203874195:G:A | NC_000002.12:203874195:G:A | (self) |
ss4318740, ss16343657, ss44315036, ss48293461, ss66079983, ss76019754, ss81930522, ss97114049, ss103661233, ss120254415, ss139927002, ss160608721, ss170499862, ss244293534, ss410928037 | NT_005403.17:54948336:G:A | NC_000002.12:203874195:G:A | (self) |
10387341166 | NC_000002.12:203874195:G:T | NC_000002.12:203874195:G:T | (self) |
Publications tab displays PubMed articles citing the variation as a listing of PMID, Title, Author, Year, Journal, ordered by Year, descending.
PMID | Title | Author | Year | Journal |
---|---|---|---|---|
15452244 | Cytotoxic T-lymphocyte antigen 4 gene and recovery from hepatitis B virus infection. | Thio CL et al. | 2004 | Journal of virology |
16380915 | Replication of putative candidate-gene associations with rheumatoid arthritis in >4,000 samples from North America and Sweden: association of susceptibility with PTPN22, CTLA4, and PADI4. | Plenge RM et al. | 2005 | American journal of human genetics |
17209142 | Interaction analysis of the CBLB and CTLA4 genes in type 1 diabetes. | Payne F et al. | 2007 | Journal of leukocyte biology |
17334650 | A type 1 diabetes subgroup with a female bias is characterised by failure in tolerance to thyroid peroxidase at an early age and a strong association with the cytotoxic T-lymphocyte-associated antigen-4 gene. | Howson JM et al. | 2007 | Diabetologia |
17554260 | Robust associations of four new chromosome regions from genome-wide analyses of type 1 diabetes. | Todd JA et al. | 2007 | Nature genetics |
17606874 | Association of the vitamin D metabolism gene CYP27B1 with type 1 diabetes. | Bailey R et al. | 2007 | Diabetes |
17666451 | Associations between human leukocyte antigen, PTPN22, CTLA4 genotypes and rheumatoid arthritis phenotypes of autoantibody status, age at diagnosis and erosions in a large cohort study. | Karlson EW et al. | 2008 | Annals of the rheumatic diseases |
17825114 | Association of CTLA-4 gene polymorphisms with sporadic breast cancer in Chinese Han population. | Wang L et al. | 2007 | BMC cancer |
17940599 | Assembly of inflammation-related genes for pathway-focused genetic analysis. | Loza MJ et al. | 2007 | PloS one |
18000051 | Allelic variant in CTLA4 alters T cell phosphorylation patterns. | Maier LM et al. | 2007 | Proceedings of the National Academy of Sciences of the United States of America |
18200060 | PTPN22 is genetically associated with risk of generalized vitiligo, but CTLA4 is not. | LaBerge GS et al. | 2008 | The Journal of investigative dermatology |
18252225 | On the use of general control samples for genome-wide association studies: genetic matching highlights causal variants. | Luca D et al. | 2008 | American journal of human genetics |
18456185 | Genetics and genomics of primary biliary cirrhosis. | Juran BD et al. | 2008 | Clinics in liver disease |
18462498 | Genetic polymorphisms in PTPN22, PADI-4, and CTLA-4 and risk for rheumatoid arthritis in two longitudinal cohort studies: evidence of gene-environment interactions with heavy cigarette smoking. | Costenbader KH et al. | 2008 | Arthritis research & therapy |
18466531 | Case-control association analysis of rheumatoid arthritis with candidate genes using related cases. | Yoo YJ et al. | 2007 | BMC proceedings |
18528295 | Influence of cytotoxic T lymphocyte-associated antigen 4 (CTLA4) common polymorphisms on outcome in treatment of melanoma patients with CTLA-4 blockade. | Breunis WB et al. | 2008 | Journal of immunotherapy (Hagerstown, Md. |
18556337 | Impact of diabetes susceptibility loci on progression from pre-diabetes to diabetes in at-risk individuals of the diabetes prevention trial-type 1 (DPT-1). | Butty V et al. | 2008 | Diabetes |
18576317 | Lack of association of functional CTLA4 polymorphisms with juvenile idiopathic arthritis. | Prahalad S et al. | 2008 | Arthritis and rheumatism |
18773895 | The genetic basis of primary biliary cirrhosis: premises, not promises. | Invernizzi P et al. | 2008 | Gastroenterology |
18776148 | Joint genetic susceptibility to type 1 diabetes and autoimmune thyroiditis: from epidemiology to mechanisms. | Huber A et al. | 2008 | Endocrine reviews |
18778710 | Primary biliary cirrhosis is associated with a genetic variant in the 3' flanking region of the CTLA4 gene. | Juran BD et al. | 2008 | Gastroenterology |
18794853 | Common variants at CD40 and other loci confer risk of rheumatoid arthritis. | Raychaudhuri S et al. | 2008 | Nature genetics |
18805939 | Functional genetic polymorphisms and female reproductive disorders: part II--endometriosis. | Tempfer CB et al. | 2009 | Human reproduction update |
18853133 | Gene variants influencing measures of inflammation or predisposing to autoimmune and inflammatory diseases are not associated with the risk of type 2 diabetes. | Rafiq S et al. | 2008 | Diabetologia |
18940880 | Association of type 1 diabetes with two Loci on 12q13 and 16p13 and the influence coexisting thyroid autoimmunity in Japanese. | Awata T et al. | 2009 | The Journal of clinical endocrinology and metabolism |
19014504 | Lack of association between sCTLA-4 levels in human plasma and common CTLA-4 polymorphisms. | Berry A et al. | 2008 | Journal of negative results in biomedicine |
19073967 | Shared and distinct genetic variants in type 1 diabetes and celiac disease. | Smyth DJ et al. | 2008 | The New England journal of medicine |
19141582 | Autoimmune thyroiditis and diabetes: dissecting the joint genetic susceptibility in a large cohort of multiplex families. | Villano MJ et al. | 2009 | The Journal of clinical endocrinology and metabolism |
19147066 | Genomic and proteomic analysis of allogeneic hematopoietic cell transplant outcome. Seeking greater understanding the pathogenesis of GVHD and mortality. | Hansen JA et al. | 2009 | Biology of blood and marrow transplantation |
19175525 | CTLA4 and generalized vitiligo: two genetic association studies and a meta-analysis of published data. | Birlea SA et al. | 2009 | Pigment cell & melanoma research |
19300490 | An African ancestry-specific allele of CTLA4 confers protection against rheumatoid arthritis in African Americans. | Kelley JM et al. | 2009 | PLoS genetics |
19359276 | Identification of AF4/FMR2 family, member 3 (AFF3) as a novel rheumatoid arthritis susceptibility locus and confirmation of two further pan-autoimmune susceptibility genes. | Barton A et al. | 2009 | Human molecular genetics |
19404967 | Confirmation of STAT4, IL2/IL21, and CTLA4 polymorphisms in rheumatoid arthritis. | Daha NA et al. | 2009 | Arthritis and rheumatism |
19430480 | Genome-wide association study and meta-analysis find that over 40 loci affect risk of type 1 diabetes. | Barrett JC et al. | 2009 | Nature genetics |
19506323 | The onset of diabetes in three out of four sisters: a Japanese family with type 1 diabetes. A case report. | Kishi A et al. | 2009 | Endocrine journal |
19609446 | CTLA4 autoimmunity-associated genotype contributes to severe pulmonary tuberculosis in an African population. | Thye T et al. | 2009 | PloS one |
19622768 | CTLA4 variants, UV-induced tolerance, and risk of non-melanoma skin cancer. | Welsh MM et al. | 2009 | Cancer research |
19672595 | Polymorphisms in the CD28/CTLA4/ICOS genes: role in malignant melanoma susceptibility and prognosis? | Bouwhuis MG et al. | 2010 | Cancer immunology, immunotherapy |
19740340 | The CTLA-4 gene polymorphisms are associated with CTLA-4 protein expression levels in multiple sclerosis patients and with susceptibility to disease. | Karabon L et al. | 2009 | Immunology |
19895365 | Functional polymorphism in CTLA4 gene influences the response to therapy with inhaled corticosteroids in Slovenian children with atopic asthma. | Berce V et al. | 2010 | Biomarkers |
19898481 | Genetic variants at CD28, PRDM1 and CD2/CD58 are associated with rheumatoid arthritis risk. | Raychaudhuri S et al. | 2009 | Nature genetics |
19951419 | Confirmation of the genetic association of CTLA4 and PTPN22 with ANCA-associated vasculitis. | Carr EJ et al. | 2009 | BMC medical genetics |
19956097 | Remapping the type I diabetes association of the CTLA4 locus. | Qu HQ et al. | 2009 | Genes and immunity |
19956101 | Overview of the Rapid Response data. | Brown WM et al. | 2009 | Genes and immunity |
19956106 | Analysis of 19 genes for association with type I diabetes in the Type I Diabetes Genetics Consortium families. | Howson JM et al. | 2009 | Genes and immunity |
20072139 | Association of the AFF3 gene and IL2/IL21 gene region with juvenile idiopathic arthritis. | Hinks A et al. | 2010 | Genes and immunity |
20075733 | Recent advances in the genetics of rheumatoid arthritis. | Raychaudhuri S et al. | 2010 | Current opinion in rheumatology |
20203524 | Genetic susceptibility to type 2 diabetes is associated with reduced prostate cancer risk. | Pierce BL et al. | 2010 | Human heredity |
20219786 | The role of rheumatoid arthritis genetic susceptibility markers in the prediction of erosive disease in patients with early inflammatory polyarthritis: results from the Norfolk Arthritis Register. | Plant D et al. | 2011 | Rheumatology (Oxford, England) |
20233754 | Cumulative association of 22 genetic variants with seropositive rheumatoid arthritis risk. | Karlson EW et al. | 2010 | Annals of the rheumatic diseases |
20236493 | The contribution of genetic variation and infection to the pathogenesis of ANCA-associated systemic vasculitis. | Willcocks LC et al. | 2010 | Arthritis research & therapy |
20300120 | HLA and CTLA4 polymorphisms may confer a synergistic risk in the susceptibility to Graves' disease. | Takahashi M et al. | 2010 | Journal of human genetics |
20309874 | Rheumatoid arthritis risk allele PTPRC is also associated with response to anti-tumor necrosis factor alpha therapy. | Cui J et al. | 2010 | Arthritis and rheumatism |
20352109 | Association of the CTLA4 gene with Graves' disease in the Chinese Han population. | Zhao SX et al. | 2010 | PloS one |
20439292 | Genetic variants in the prediction of rheumatoid arthritis. | van der Helm-van Mil AH et al. | 2010 | Annals of the rheumatic diseases |
20444755 | Investigation of rheumatoid arthritis susceptibility genes identifies association of AFF3 and CD226 variants with response to anti-tumour necrosis factor treatment. | Tan RJ et al. | 2010 | Annals of the rheumatic diseases |
20453842 | Genome-wide association study meta-analysis identifies seven new rheumatoid arthritis risk loci. | Stahl EA et al. | 2010 | Nature genetics |
20461788 | Association of a rheumatoid arthritis susceptibility variant at the CCL21 locus with premature mortality in inflammatory polyarthritis patients. | Farragher TM et al. | 2010 | Arthritis care & research |
20491567 | CTLA4 CT60 single-nucleotide polymorphism is associated with Slovenian inflammatory bowel disease patients and regulates expression of CTLA4 isoforms. | Repnik K et al. | 2010 | DNA and cell biology |
20498205 | Investigation of potential non-HLA rheumatoid arthritis susceptibility loci in a European cohort increases the evidence for nine markers. | Plant D et al. | 2010 | Annals of the rheumatic diseases |
20510233 | Leveraging human genetics to develop future therapeutic strategies in rheumatoid arthritis. | Plenge RM et al. | 2010 | Rheumatic diseases clinics of North America |
20537165 | The CTLA4 variants may interact with the IL23R- and NOD2-conferred risk in development of Crohn's disease. | Hradsky O et al. | 2010 | BMC medical genetics |
20557968 | Association analysis of cytotoxic T-lymphocyte antigen 4 gene polymorphisms with primary biliary cirrhosis in Japanese patients. | Joshita S et al. | 2010 | Journal of hepatology |
20587799 | Genetics of type 1 diabetes: what's next? | Pociot F et al. | 2010 | Diabetes |
20610662 | Association of single nucleotide polymorphisms in cytotoxic T-lymphocyte antigen 4 and susceptibility to autoimmune type 1 diabetes in Tunisians. | Benmansour J et al. | 2010 | Clinical and vaccine immunology |
20638243 | Update on the genetics and genomics of PBC. | Juran BD et al. | 2010 | Journal of autoimmunity |
20722033 | The susceptibility loci juvenile idiopathic arthritis shares with other autoimmune diseases extend to PTPN2, COG6, and ANGPT1. | Thompson SD et al. | 2010 | Arthritis and rheumatism |
20805105 | Synthetic associations in the context of genome-wide association scan signals. | Orozco G et al. | 2010 | Human molecular genetics |
20805278 | Latent autoimmune diabetes in adults differs genetically from classical type 1 diabetes diagnosed after the age of 35 years. | Andersen MK et al. | 2010 | Diabetes care |
20825955 | Clinical and genetic characteristics of patients with autoimmune thyroid disease with anti-islet autoimmunity. | Moriguchi M et al. | 2011 | Metabolism |
20827186 | Defining genetic risk for graft-versus-host disease and mortality following allogeneic hematopoietic stem cell transplantation. | Hansen JA et al. | 2010 | Current opinion in hematology |
20885991 | Advances and challenges in biomarker development for type 1 diabetes prediction and prevention using omic technologies. | Carey C et al. | 2010 | Expert opinion on medical diagnostics |
20933377 | Recent findings on genetics of systemic autoimmune diseases. | Delgado-Vega A et al. | 2010 | Current opinion in immunology |
21040781 | CTLA-4 confers a risk of recurrent schizophrenia, major depressive disorder and bipolar disorder in the Chinese Han population. | Liu J et al. | 2011 | Brain, behavior, and immunity |
21085187 | Comprehensive association analysis of candidate genes for generalized vitiligo supports XBP1, FOXP3, and TSLP. | Birlea SA et al. | 2011 | The Journal of investigative dermatology |
21090563 | Blockade of cytotoxic T-lymphocyte antigen-4 by ipilimumab results in dysregulation of gastrointestinal immunity in patients with advanced melanoma. | Berman D et al. | 2010 | Cancer immunity |
21107304 | Genetic determinants of mycophenolate-related anemia and leukopenia after transplantation. | Jacobson PA et al. | 2011 | Transplantation |
21120996 | Most common single-nucleotide polymorphisms associated with rheumatoid arthritis in persons of European ancestry confer risk of rheumatoid arthritis in African Americans. | Hughes LB et al. | 2010 | Arthritis and rheumatism |
21121051 | The reference human genome demonstrates high risk of type 1 diabetes and other disorders. | Chen R et al. | 2011 | Pacific Symposium on Biocomputing. Pacific Symposium on Biocomputing |
21156761 | A genome-wide association study suggests contrasting associations in ACPA-positive versus ACPA-negative rheumatoid arthritis. | Padyukov L et al. | 2011 | Annals of the rheumatic diseases |
21211616 | Genetic basis of autoantibody positive and negative rheumatoid arthritis risk in a multi-ethnic cohort derived from electronic health records. | Kurreeman F et al. | 2011 | American journal of human genetics |
21383967 | Meta-analysis of genome-wide association studies in celiac disease and rheumatoid arthritis identifies fourteen non-HLA shared loci. | Zhernakova A et al. | 2011 | PLoS genetics |
21669243 | CTLA-4, CD28, and ICOS gene polymorphism associations with non-small-cell lung cancer. | Karabon L et al. | 2011 | Human immunology |
21744007 | Variations in suppressor molecule ctla-4 gene are related to susceptibility to multiple myeloma in a polish population. | Karabon L et al. | 2012 | Pathology oncology research |
21829393 | Genome-wide association analysis of autoantibody positivity in type 1 diabetes cases. | Plagnol V et al. | 2011 | PLoS genetics |
21852963 | Pervasive sharing of genetic effects in autoimmune disease. | Cotsapas C et al. | 2011 | PLoS genetics |
21873553 | Genetic analysis of adult-onset autoimmune diabetes. | Howson JM et al. | 2011 | Diabetes |
21931699 | Genetic risk score predicting risk of rheumatoid arthritis phenotypes and age of symptom onset. | Chibnik LB et al. | 2011 | PloS one |
21963258 | Integrating autoimmune risk loci with gene-expression data identifies specific pathogenic immune cell subsets. | Hu X et al. | 2011 | American journal of human genetics |
21980299 | A genome-wide meta-analysis of six type 1 diabetes cohorts identifies multiple associated loci. | Bradfield JP et al. | 2011 | PLoS genetics |
21980439 | A systems genetics approach provides a bridge from discovered genetic variants to biological pathways in rheumatoid arthritis. | Nakaoka H et al. | 2011 | PloS one |
21981779 | Variants near FOXE1 are associated with hypothyroidism and other thyroid conditions: using electronic medical records for genome- and phenome-wide studies. | Denny JC et al. | 2011 | American journal of human genetics |
22123319 | A prospective phase II trial exploring the association between tumor microenvironment biomarkers and clinical activity of ipilimumab in advanced melanoma. | Hamid O et al. | 2011 | Journal of translational medicine |
22174698 | A comprehensive analysis of shared loci between systemic lupus erythematosus (SLE) and sixteen autoimmune diseases reveals limited genetic overlap. | Ramos PS et al. | 2011 | PLoS genetics |
22328738 | Comprehensive assessment of rheumatoid arthritis susceptibility loci in a large psoriatic arthritis cohort. | Bowes J et al. | 2012 | Annals of the rheumatic diseases |
22346247 | Role of ATG16L, NOD2 and IL23R in Crohn's disease pathogenesis. | Naser SA et al. | 2012 | World journal of gastroenterology |
22414241 | Cytotoxic T-lymphocyte associated antigen-4 gene polymorphisms and primary biliary cirrhosis: a systematic review. | Li M et al. | 2012 | Journal of gastroenterology and hepatology |
22418270 | Polymorphisms in cytotoxic T lymphocyte associated antigen-4 influence the rate of acute rejection after renal transplantation in 167 Chinese recipients. | Gao JW et al. | 2012 | Transplant immunology |
22479352 | The role of inflammatory pathway genetic variation on maternal metabolic phenotypes during pregnancy. | Urbanek M et al. | 2012 | PloS one |
22508400 | Meta-analysis of genetic polymorphisms in granulomatosis with polyangiitis (Wegener's) reveals shared susceptibility loci with rheumatoid arthritis. | Chung SA et al. | 2012 | Arthritis and rheumatism |
22511809 | Association of variants in HLA-DQA1-DQB1, PTPN22, INS, and CTLA4 with GAD autoantibodies and insulin secretion in nondiabetic adults of the Botnia Prospective Study. | Andersen MK et al. | 2012 | European journal of endocrinology |
22654555 | The genetic basis of graves' disease. | Płoski R et al. | 2011 | Current genomics |
22661644 | Genetic markers of rheumatoid arthritis susceptibility in anti-citrullinated peptide antibody negative patients. | Viatte S et al. | 2012 | Annals of the rheumatic diseases |
22811616 | Association of CTLA4 gene polymorphisms with susceptibility and pathology correlation to pulmonary tuberculosis in Southern Han Chinese. | Wang C et al. | 2012 | International journal of biological sciences |
22891215 | Evidence of gene-gene interaction and age-at-diagnosis effects in type 1 diabetes. | Howson JM et al. | 2012 | Diabetes |
23121884 | Investigation of Caucasian rheumatoid arthritis susceptibility loci in African patients with the same disease. | Viatte S et al. | 2012 | Arthritis research & therapy |
23226040 | Pharmacogenetics of rheumatoid arthritis: Potential targets from susceptibility genes and present therapies. | O'Rielly DD et al. | 2010 | Pharmacogenomics and personalized medicine |
23251581 | Meta-analysis of 125 rheumatoid arthritis-related single nucleotide polymorphisms studied in the past two decades. | Jiang Y et al. | 2012 | PloS one |
23300559 | Polymorphisms in CTLA4 influence incidence of drug-induced liver injury after renal transplantation in Chinese recipients. | Guo Y et al. | 2012 | PloS one |
23432218 | Association between cytotoxic T-lymphocyte antigen 4 gene polymorphisms and primary biliary cirrhosis in Chinese population: data from a multicenter study. | Li Q et al. | 2013 | Journal of gastroenterology and hepatology |
23480667 | Cytotoxic T-lymphocyte antigen-4 genetic variants and risk of Ewing's sarcoma. | Feng D et al. | 2013 | Genetic testing and molecular biomarkers |
23567921 | Cytotoxic T-lymphocyte antigen 4 (CTLA4) +49AG and CT60 gene polymorphisms in Alopecia Areata: a case-control association study in the Italian population. | Megiorni F et al. | 2013 | Archives of dermatological research |
23703660 | The -319C/+49G/CT60G haplotype of CTLA-4 gene confers susceptibility to rheumatoid arthritis in Mexican population. | Torres-Carrillo N et al. | 2013 | Cell biochemistry and biophysics |
23911738 | Expression of B7 and CD28 family genes in newly diagnosed type 1 diabetes. | Pruul K et al. | 2013 | Human immunology |
24068971 | Predicting the risk of rheumatoid arthritis and its age of onset through modelling genetic risk variants with smoking. | Scott IC et al. | 2013 | PLoS genetics |
24069534 | Genetics of psoriasis and pharmacogenetics of biological drugs. | Prieto-Pérez R et al. | 2013 | Autoimmune diseases |
24270470 | Influence of cytotoxic T lymphocyte-associated antigen 4 polymorphisms on the outcomes of hepatitis B virus infection. | Chen M et al. | 2014 | Molecular medicine reports |
24449572 | Novel rheumatoid arthritis susceptibility locus at 22q12 identified in an extended UK genome-wide association study. | Orozco G et al. | 2014 | Arthritis & rheumatology (Hoboken, N.J.) |
25003519 | CTLA4 variants and haplotype contribute genetic susceptibility to myasthenia gravis in northern Chinese population. | Sun L et al. | 2014 | PloS one |
25042601 | Association analysis of PTPN22, CTLA4 and IFIH1 genes with type 1 diabetes in Colombian families. | Rodríguez A et al. | 2015 | Journal of diabetes |
25326706 | Genetic polymorphisms and risk of recurrent wheezing in pediatric age. | Esposito S et al. | 2014 | BMC pulmonary medicine |
25356901 | Cytotoxic T-lymphocyte antigen 4 gene polymorphism influences the incidence of symptomatic human cytomegalovirus infection after renal transplantation. | Misra MK et al. | 2015 | Pharmacogenetics and genomics |
25383768 | High levels of soluble CTLA-4 are present in anti-mitochondrial antibody positive, but not in antibody negative patients with primary biliary cirrhosis. | Saverino D et al. | 2014 | PloS one |
25604582 | Association between co-inhibitory molecule gene tagging single nucleotide polymorphisms and the risk of colorectal cancer in Chinese. | Ge J et al. | 2015 | Journal of cancer research and clinical oncology |
25652333 | Genetics of serum concentration of IL-6 and TNFα in systemic lupus erythematosus and rheumatoid arthritis: a candidate gene analysis. | Solus JF et al. | 2015 | Clinical rheumatology |
25940108 | A CT60G>A polymorphism in the CTLA-4 gene of the recipient may confer susceptibility to acute graft versus host disease after allogeneic hematopoietic stem cell transplantation. | Karabon L et al. | 2015 | Immunogenetics |
25964488 | GIMAP GTPase family genes: potential modifiers in autoimmune diabetes, asthma, and allergy. | Heinonen MT et al. | 2015 | Journal of immunology (Baltimore, Md. |
25980680 | Differences in B7 and CD28 family gene expression in the peripheral blood between newly diagnosed young-onset and adult-onset type 1 diabetes patients. | Pruul K et al. | 2015 | Molecular and cellular endocrinology |
26079279 | HCV F protein amplifies the predictions of IL-28B and CTLA-4 polymorphisms about the susceptibility and outcomes of HCV infection in Southeast China. | Xiao W et al. | 2015 | Infection, genetics and evolution |
26124183 | Impact of genetic polymorphisms on paediatric atopic dermatitis. | Esposito S et al. | 2015 | International journal of immunopathology and pharmacology |
26194362 | Paradoxical psoriasiform reactions to anti-TNFα drugs are associated with genetic polymorphisms in patients with psoriasis. | Cabaleiro T et al. | 2016 | The pharmacogenomics journal |
26379408 | CTLA-4 and MDR1 polymorphisms increase the risk for ulcerative colitis: A meta-analysis. | Zhao JJ et al. | 2015 | World journal of gastroenterology |
26403483 | CTLA-4 and CD28 genes' polymorphisms and renal cell carcinoma susceptibility in the Polish population--a prospective study. | Tupikowski K et al. | 2015 | Tissue antigens |
26405069 | ATPase4A Autoreactivity and Its Association With Autoimmune Phenotypes in the Type 1 Diabetes Genetics Consortium Study. | Wenzlau JM et al. | 2015 | Diabetes care |
26405547 | Association of the CTLA4 gene CT60/rs3087243 single-nucleotide polymorphisms with Graves' disease. | Fang W et al. | 2015 | Biomedical reports |
26709093 | Investigation of Cytotoxic T-lymphocyte antigen 4 Polymorphisms in Gastric Cardia Adenocarcinoma. | Tang W et al. | 2016 | Scandinavian journal of immunology |
26843965 | Identification of rheumatoid arthritis biomarkers based on single nucleotide polymorphisms and haplotype blocks: A systematic review and meta-analysis. | Saad MN et al. | 2016 | Journal of advanced research |
26904692 | Genetic Risk Score Modelling for Disease Progression in New-Onset Type 1 Diabetes Patients: Increased Genetic Load of Islet-Expressed and Cytokine-Regulated Candidate Genes Predicts Poorer Glycemic Control. | Brorsson CA et al. | 2016 | Journal of diabetes research |
27014188 | Dissecting the Genetic Susceptibility to Graves' Disease in a Cohort of Patients of Italian Origin. | Lombardi A et al. | 2016 | Frontiers in endocrinology |
27081086 | Effect of CTLA-4 gene polymorphisms on long-term kidney allograft function in Han Chinese recipients. | Guo Y et al. | 2016 | Oncotarget |
27092776 | A Combination of CD28 (rs1980422) and IRF5 (rs10488631) Polymorphisms Is Associated with Seropositivity in Rheumatoid Arthritis: A Case Control Study. | Vernerova L et al. | 2016 | PloS one |
27111218 | Association of Cytotoxic T-Lymphocyte-Associated Protein 4 (CTLA4) Gene Polymorphisms with Autoimmune Thyroid Disease in Children and Adults: Case-Control Study. | Ting WH et al. | 2016 | PloS one |
27118383 | CTLA-4 polymorphisms and haplotype correlate with survival in ALL after allogeneic stem cell transplantation from related HLA-haplotype-mismatched donor. | Qin XY et al. | 2016 | Journal of translational medicine |
27331016 | ERBB3-rs2292239 as primary type 1 diabetes association locus among non-HLA genes in Chinese. | Sun C et al. | 2016 | Meta gene |
27351445 | Association of functional genetic variants of CTLA4 with reduced serum CTLA4 protein levels and increased risk of idiopathic recurrent miscarriages. | Misra MK et al. | 2016 | Fertility and sterility |
27400406 | Association study involving polymorphisms in IL-6, IL-1RA, and CTLA4 genes and rheumatic heart disease in New Zealand population of Māori and Pacific ancestry. | Azevedo PM et al. | 2016 | Cytokine |
27417569 | Systematic review: genetic biomarkers associated with anti-TNF treatment response in inflammatory bowel diseases. | Bek S et al. | 2016 | Alimentary pharmacology & therapeutics |
27498821 | Lack of association between cytotoxic T-lymphocyte antigen-4 gene polymorphisms and lymphoid malignancy risk: evidence from a meta-analysis. | Dai Z et al. | 2016 | Annals of hematology |
27638540 | CD28/CTLA-4/ICOS haplotypes confers susceptibility to Graves' disease and modulates clinical phenotype of disease. | Pawlak-Adamska E et al. | 2017 | Endocrine |
27716086 | Association of CD247 (CD3ζ) gene polymorphisms with T1D and AITD in the population of northern Sweden. | Holmberg D et al. | 2016 | BMC medical genetics |
27888068 | Associations of single nucleotide polymorphisms of PTPN22 and Ctla4 genes with the risk of allergic rhinitis in a Chinese Han population. | Ke X et al. | 2017 | Human immunology |
27988812 | CD28, CTLA-4 and CCL5 gene polymorphisms in patients with rheumatoid arthritis. | Luterek-Puszyńska K et al. | 2017 | Clinical rheumatology |
28097051 | CTLA-4 polymorphisms associate with breast cancer susceptibility in Asians: a meta-analysis. | Dai Z et al. | 2017 | PeerJ |
28520980 | Can Non-HLA Single Nucleotide Polymorphisms Help Stratify Risk in TrialNet Relatives at Risk for Type 1 Diabetes? | Steck AK et al. | 2017 | The Journal of clinical endocrinology and metabolism |
28642883 | Genetic Polymorphisms of Cytotoxic T-Lymphocyte Antigen 4 in Primary Biliary Cholangitis: A Meta-Analysis. | Yang XC et al. | 2017 | Journal of immunology research |
28922436 | Genetic Risk Factors for Autoimmune Thyroid Disease might Affect the Susceptibility to and Modulate the Progression of Primary Biliary Cholangitis. | Kuś A et al. | 2017 | Journal of gastrointestinal and liver diseases |
29100337 | Investigation of Cytotoxic T-lymphocyte antigen-4 polymorphisms in non-small cell lung cancer: a case-control study. | Chen S et al. | 2017 | Oncotarget |
29147453 | CTLA-4 Genetic Variants (rs11571317 and rs3087243): Role in Susceptibility and Progression of Breast Cancer. | Goske M et al. | 2017 | World journal of oncology |
29147678 | A Haplotype Associated with Enhanced Mineralocorticoid Receptor Expression Facilitates the Stress-Induced Shift from "Cognitive" to "Habit" Learning. | Wirz L et al. | 2017 | eNeuro |
29264740 | CTLA-4 polymorphisms are associated with treatment outcomes of patients with multiple myeloma receiving bortezomib-based regimens. | Qin XY et al. | 2018 | Annals of hematology |
29299173 | Association between rs3087243 and rs231775 polymorphism within the cytotoxic T-lymphocyte antigen 4 gene and Graves' disease: a case/control study combined with meta-analyses. | Tu Y et al. | 2017 | Oncotarget |
29335768 | CTLA-4 polymorphisms: influence on transplant-related mortality and survival in children undergoing allogeneic hematopoietic stem cell transplantation. | Hammrich J et al. | 2018 | Journal of cancer research and clinical oncology |
29409002 | PTPN22 and CTLA-4 Polymorphisms Are Associated With Polyglandular Autoimmunity. | Houcken J et al. | 2018 | The Journal of clinical endocrinology and metabolism |
29476189 | The synergic effects of CTLA-4/Foxp3-related genotypes and chromosomal aberrations on the risk of recurrent spontaneous abortion among a Chinese Han population. | Fan Q et al. | 2018 | Journal of human genetics |
29675891 | Association of the HLA-B27 antigen and the CTLA4 gene CT60/rs3087243 polymorphism with ankylosing spondylitis in Algerian population: A case-control study. | Dahmani CA et al. | 2018 | International journal of immunogenetics |
29794444 | Association of Five Snps in Cytotoxic T-Lymphocyte Antigen 4 and Cancer Susceptibility: Evidence from 67 Studies. | Fang M et al. | 2018 | Cellular physiology and biochemistry |
29979892 | Genetic variant association of PTPN22, CTLA4, IL2RA, as well as HLA frequencies in susceptibility to alopecia areata. | Moravvej H et al. | 2018 | Immunological investigations |
30009380 | Association of CTLA-4 polymorphisms with increased risks of myasthenia gravis. | Li F et al. | 2018 | Annals of human genetics |
30223781 | Correlation between CTLA-4 and CD40 gene polymorphisms and their interaction in graves' disease in a Chinese Han population. | Chen X et al. | 2018 | BMC medical genetics |
30319055 | Association of cytotoxic T-lymphocyte antigen 4 gene with immune thrombocytopenia in Chinese Han children. | Yao L et al. | 2019 | Hematology (Amsterdam, Netherlands) |
30634576 | CTLA-4 Genetic Variants Predict Survival in Patients with Sepsis. | Mewes C et al. | 2019 | Journal of clinical medicine |
30701793 | Association between polymorphic markers in candidate genes and the risk of manifestationof endocrine ophthalmopathy in patients with Graves' disease. | Petunina NA et al. | 2018 | Terapevticheskii arkhiv |
30888206 | Lack of Association Between CTLA-4 Genetic Polymorphisms and Noncardiac Gastric Cancer in a Chinese Population. | Liu J et al. | 2019 | DNA and cell biology |
30888520 | Genetic Mechanisms Highlight Shared Pathways for the Pathogenesis of Polygenic Type 1 Diabetes and Monogenic Autoimmune Diabetes. | Johnson MB et al. | 2019 | Current diabetes reports |
30921471 | Identification of susceptibility SNPs in CTLA-4 and PTPN22 for scleritis in Han Chinese. | Li F et al. | 2019 | Clinical and experimental immunology |
31335675 | Association of CTLA-4 tagging polymorphisms and haplotypes with hepatocellular carcinoma risk: A case-control study. | Yang J et al. | 2019 | Medicine |
31402427 | Germinal Immunogenetics predict treatment outcome for PD-1/PD-L1 checkpoint inhibitors. | Refae S et al. | 2020 | Investigational new drugs |
31473094 | Association between CTLA-4 gene polymorphism and myasthenia gravis in a Chinese cohort. | Cai GM et al. | 2019 | Journal of clinical neuroscience |
31475028 | Host Genetic Determinants of Hepatitis B Virus Infection. | Zhang Z et al. | 2019 | Frontiers in genetics |
31620907 | PDCD1 and PDCD1LG1 polymorphisms affect the susceptibility to multiple myeloma. | Kasamatsu T et al. | 2020 | Clinical and experimental medicine |
31698031 | Associations of genetic polymorphisms in CTLA-4 and IL-18 with chronic liver diseases: Evidence from a meta-analysis. | Zhang S et al. | 2020 | Genomics |
31808541 | Type 1 diabetes linked PTPN22 gene polymorphism is associated with the frequency of circulating regulatory T cells. | Valta M et al. | 2020 | European journal of immunology |
31845023 | Genetic polymorphism patterns suggest a genetic driven inflammatory response as pathogenesis in appendicitis. | Dimberg J et al. | 2020 | International journal of colorectal disease |
31868208 | Associations of polymorphisms in CTLA-4 and IL-18 with liver diseases: evidence from a meta-analysis. | Zhang S et al. | 2019 | Bioscience reports |
31933538 | Reduced GLP-1 response to a meal is associated with the CTLA4 rs3087243 G/G genotype. | Zóka A et al. | 2019 | Central-European journal of immunology |
32178688 | CTLA-4 polymorphisms and predisposition to digestive system malignancies: a meta-analysis of 31 published studies. | Li J et al. | 2020 | World journal of surgical oncology |
32278632 | CTLA4 +49AG (rs231775) and CT60 (rs3087243) gene variants are not associated with alopecia areata in a Mexican population from Monterrey Mexico. | Salinas-Santander MA et al. | 2020 | Anais brasileiros de dermatologia |
32328064 | Autoimmunity-Related Risk Variants in PTPN22 and CTLA4 Are Associated With ME/CFS With Infectious Onset. | Steiner S et al. | 2020 | Frontiers in immunology |
32419081 | Polymorphisms of the genes CTLA4, PTPN22, CD40, and PPARG and their roles in Graves' disease: susceptibility and clinical features. | Bufalo NE et al. | 2021 | Endocrine |
32616425 | Impacts of CD152 polymorphisms on cervical cancer susceptibility. | Cao S et al. | 2020 | Pathology, research and practice |
32831971 | Investigating the GWAS-Implicated Loci for Rheumatoid Arthritis in the Pakistani Population. | Aslam MM et al. | 2020 | Disease markers |
32875738 | Chromosome 2q33genetic polymorphisms in Tunisian endemic pemphigus foliaceus. | Abida O et al. | 2020 | Molecular genetics & genomic medicine |
32946523 | A sequencing study of CTLA4 in Pakistani rheumatoid arthritis cases. | Aslam MM et al. | 2020 | PloS one |
33059697 | rs2476601 in PTPN22 gene in rheumatoid arthritis and periodontitis-a possible interface? | Schulz S et al. | 2020 | Journal of translational medicine |
33224992 | Some Common SNPs of the T-Cell Homeostasis-Related Genes Are Associated with Multiple Sclerosis, but Not with the Clinical Manifestations of the Disease, in the Polish Population. | Chorąży M et al. | 2020 | Journal of immunology research |
33519815 | Immune Checkpoint Molecules-Inherited Variations as Markers for Cancer Risk. | Wagner M et al. | 2020 | Frontiers in immunology |
33604347 | The Association Between CTLA-4, CD80/86, and CD28 Gene Polymorphisms and Rheumatoid Arthritis: An Original Study and Meta-Analysis. | Liu W et al. | 2021 | Frontiers in medicine |
33622891 | Cytotoxic T-lymphocyte Antigen-4 (CTLA-4) Gene Polymorphism (rs3087243) Is Related to Risk and Survival in Patients With Colorectal Cancer. | VAN Nguyen S et al. | 2021 | In vivo (Athens, Greece) |
33717091 | Polymorphisms and Circulating Plasma Protein Levels of Immune Checkpoints (CTLA-4 and PD-1) Are Associated With Posner-Schlossman Syndrome in Southern Chinese. | Huang X et al. | 2021 | Frontiers in immunology |
33802937 | The Role of CTLA4 and Its Polymorphisms in Solid Organ and Haematopoietic Stem Cell Transplantation. | Rosik J et al. | 2021 | International journal of molecular sciences |
34008865 | Genetic Polymorphisms of Cytotoxic T-Lymphocyte Antigen 4 (CTLA-4) and clinical outcomes post-allogeneic hematopoietic stem cell transplantation: A systematic review and meta-analysis. | Najafi A et al. | 2021 | Clinical transplantation |
34149691 | Association of Polymorphisms in T-Cell Activation Costimulatory/Inhibitory Signal Genes With Allograft Kidney Rejection Risk. | Santiago JL et al. | 2021 | Frontiers in immunology |
34339393 | Association between CTLA-4 gene polymorphism and risk of rheumatoid arthritis: a meta-analysis. | Zhou C et al. | 2021 | Aging |
34577605 | Clinical Application of Pharmacogenetic Markers in the Treatment of Dermatologic Pathologies. | Membrive Jiménez C et al. | 2021 | Pharmaceuticals (Basel, Switzerland) |
34671352 | The Association Between Single-Nucleotide Polymorphisms of Co-Stimulatory Genes Within Non-HLA Region and the Prognosis of Leukemia Patients With Hematopoietic Stem Cell Transplantation. | Chen DP et al. | 2021 | Frontiers in immunology |
35027970 | Immunogenetic aspects of idiopathic recurrent miscarriage in the Kazakh population. | Svyatova G et al. | 2021 | Journal of medicine and life |
35088123 | Genetics of rheumatoid arthritis. | Padyukov L et al. | 2022 | Seminars in immunopathology |
35150042 | CTLA-4 polymorphism contributes to the genetic susceptibility of epithelial ovarian cancer. | Chen J et al. | 2022 | The journal of obstetrics and gynaecology research |
35254172 | Association of CTLA-4 gene polymorphisms and alopecia areata: a systematic review and meta-analysis. | Zhou B et al. | 2022 | Biomarkers |
35365357 | Polymorphisms in CTLA-4 predict de novo donor specific antibody formation after kidney transplantation. | Ono K et al. | 2022 | Human immunology |
35522861 | CTLA-4 POLYMORPHISM ALONG WITH PROINFLAMMATORY CYTOKINES IN AUTOIMMUNE THYROIDITIS DISEASE. | Hasan GA et al. | 2022 | Wiadomosci lekarskie (Warsaw, Poland |
35998845 | Role of Polymorphisms on the Recurrent Pregnancy Loss: A Systematic Review, Meta-analysis and Bioinformatic Analysis. | Jalilvand A et al. | 2022 | Gene |
The Flanks tab provides retrieving flanking sequences of a SNP on all molecules that have placements.
Genomic regions, transcripts, and products
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Help
NCBI Graphical Sequence Viewer display of the genomic region, transcripts and protein products for the reported RefSNP (rs).
Use the zoom option to view the nucleotides around the RefSNP and find other neighboring RefSNPs.
Visit Sequence Viewer for help with navigating inside the display and modifying the selection of displayed data tracks.
NCBI Graphical Sequence Viewer display of the genomic region, transcripts and protein products for the reported RefSNP (rs).
Use the zoom option to view the nucleotides around the RefSNP and find other neighboring RefSNPs.
Visit Sequence Viewer for help with navigating inside the display and modifying the selection of displayed data tracks.