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.
rs4810485
Current Build 156
Released September 21, 2022
- Organism
- Homo sapiens
- Position
-
chr20:46119308 (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
- T>A / T>G
- Variation Type
- SNV Single Nucleotide Variation
- Frequency
-
T=0.204269 (54068/264690, TOPMED)T=0.259677 (55134/212318, ALFA)T=0.208179 (29175/140144, GnomAD) (+ 19 more)
- Clinical Significance
- Not Reported in ClinVar
- Gene : Consequence
- CD40 : Intron Variant
- Publications
- 80 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 | 217476 | T=0.258452 | A=0.000000, G=0.741548 |
European | Sub | 184008 | T=0.262836 | A=0.000000, G=0.737164 |
African | Sub | 5848 | T=0.0908 | A=0.0000, G=0.9092 |
African Others | Sub | 202 | T=0.059 | A=0.000, G=0.941 |
African American | Sub | 5646 | T=0.0919 | A=0.0000, G=0.9081 |
Asian | Sub | 3642 | T=0.4001 | A=0.0000, G=0.5999 |
East Asian | Sub | 2308 | T=0.4064 | A=0.0000, G=0.5936 |
Other Asian | Sub | 1334 | T=0.3891 | A=0.0000, G=0.6109 |
Latin American 1 | Sub | 766 | T=0.215 | A=0.000, G=0.785 |
Latin American 2 | Sub | 7874 | T=0.2056 | A=0.0000, G=0.7944 |
South Asian | Sub | 122 | T=0.361 | A=0.000, G=0.639 |
Other | Sub | 15216 | T=0.26466 | A=0.00000, G=0.73534 |
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 |
---|---|---|---|---|---|
TopMed | Global | Study-wide | 264690 | T=0.204269 | G=0.795731 |
Allele Frequency Aggregator | Total | Global | 212318 | T=0.259677 | A=0.000000, G=0.740323 |
Allele Frequency Aggregator | European | Sub | 180810 | T=0.262978 | A=0.000000, G=0.737022 |
Allele Frequency Aggregator | Other | Sub | 14412 | T=0.26783 | A=0.00000, G=0.73217 |
Allele Frequency Aggregator | Latin American 2 | Sub | 7874 | T=0.2056 | A=0.0000, G=0.7944 |
Allele Frequency Aggregator | African | Sub | 4692 | T=0.0938 | A=0.0000, G=0.9062 |
Allele Frequency Aggregator | Asian | Sub | 3642 | T=0.4001 | A=0.0000, G=0.5999 |
Allele Frequency Aggregator | Latin American 1 | Sub | 766 | T=0.215 | A=0.000, G=0.785 |
Allele Frequency Aggregator | South Asian | Sub | 122 | T=0.361 | A=0.000, G=0.639 |
gnomAD - Genomes | Global | Study-wide | 140144 | T=0.208179 | G=0.791821 |
gnomAD - Genomes | European | Sub | 75868 | T=0.25940 | G=0.74060 |
gnomAD - Genomes | African | Sub | 42016 | T=0.08344 | G=0.91656 |
gnomAD - Genomes | American | Sub | 13658 | T=0.23159 | G=0.76841 |
gnomAD - Genomes | Ashkenazi Jewish | Sub | 3324 | T=0.2708 | G=0.7292 |
gnomAD - Genomes | East Asian | Sub | 3124 | T=0.4504 | G=0.5496 |
gnomAD - Genomes | Other | Sub | 2154 | T=0.2409 | G=0.7591 |
The PAGE Study | Global | Study-wide | 78694 | T=0.18062 | G=0.81938 |
The PAGE Study | AfricanAmerican | Sub | 32514 | T=0.08824 | G=0.91176 |
The PAGE Study | Mexican | Sub | 10810 | T=0.20842 | G=0.79158 |
The PAGE Study | Asian | Sub | 8316 | T=0.4007 | G=0.5993 |
The PAGE Study | PuertoRican | Sub | 7918 | T=0.2220 | G=0.7780 |
The PAGE Study | NativeHawaiian | Sub | 4532 | T=0.2418 | G=0.7582 |
The PAGE Study | Cuban | Sub | 4230 | T=0.2331 | G=0.7669 |
The PAGE Study | Dominican | Sub | 3828 | T=0.1682 | G=0.8318 |
The PAGE Study | CentralAmerican | Sub | 2450 | T=0.1853 | G=0.8147 |
The PAGE Study | SouthAmerican | Sub | 1982 | T=0.1942 | G=0.8058 |
The PAGE Study | NativeAmerican | Sub | 1260 | T=0.1770 | G=0.8230 |
The PAGE Study | SouthAsian | Sub | 854 | T=0.251 | G=0.749 |
14KJPN | JAPANESE | Study-wide | 28258 | T=0.39277 | G=0.60723 |
8.3KJPN | JAPANESE | Study-wide | 16760 | T=0.39463 | G=0.60537 |
1000Genomes_30x | Global | Study-wide | 6404 | T=0.2314 | G=0.7686 |
1000Genomes_30x | African | Sub | 1786 | T=0.0482 | G=0.9518 |
1000Genomes_30x | Europe | Sub | 1266 | T=0.2654 | G=0.7346 |
1000Genomes_30x | South Asian | Sub | 1202 | T=0.2795 | G=0.7205 |
1000Genomes_30x | East Asian | Sub | 1170 | T=0.4419 | G=0.5581 |
1000Genomes_30x | American | Sub | 980 | T=0.211 | G=0.789 |
1000Genomes | Global | Study-wide | 5008 | T=0.2384 | G=0.7616 |
1000Genomes | African | Sub | 1322 | T=0.0537 | G=0.9463 |
1000Genomes | East Asian | Sub | 1008 | T=0.4405 | G=0.5595 |
1000Genomes | Europe | Sub | 1006 | T=0.2594 | G=0.7406 |
1000Genomes | South Asian | Sub | 978 | T=0.275 | G=0.725 |
1000Genomes | American | Sub | 694 | T=0.215 | G=0.785 |
Genetic variation in the Estonian population | Estonian | Study-wide | 4480 | T=0.2158 | G=0.7842 |
The Avon Longitudinal Study of Parents and Children | PARENT AND CHILD COHORT | Study-wide | 3854 | T=0.2330 | G=0.7670 |
UK 10K study - Twins | TWIN COHORT | Study-wide | 3708 | T=0.2435 | G=0.7565 |
KOREAN population from KRGDB | KOREAN | Study-wide | 2930 | T=0.3546 | A=0.0000, G=0.6454 |
HapMap | Global | Study-wide | 1882 | T=0.2264 | G=0.7736 |
HapMap | American | Sub | 762 | T=0.256 | G=0.744 |
HapMap | African | Sub | 690 | T=0.090 | G=0.910 |
HapMap | Asian | Sub | 254 | T=0.445 | G=0.555 |
HapMap | Europe | Sub | 176 | T=0.318 | G=0.682 |
Korean Genome Project | KOREAN | Study-wide | 1832 | T=0.3346 | G=0.6654 |
Genome of the Netherlands Release 5 | Genome of the Netherlands | Study-wide | 998 | T=0.234 | G=0.766 |
Northern Sweden | ACPOP | Study-wide | 600 | T=0.215 | G=0.785 |
SGDP_PRJ | Global | Study-wide | 522 | T=0.165 | G=0.835 |
Qatari | Global | Study-wide | 216 | T=0.259 | G=0.741 |
A Vietnamese Genetic Variation Database | Global | Study-wide | 212 | T=0.509 | G=0.491 |
Siberian | Global | Study-wide | 50 | T=0.16 | G=0.84 |
Ancient Sardinia genome-wide 1240k capture data generation and analysis | Global | Study-wide | 46 | T=0.04 | G=0.96 |
The Danish reference pan genome | Danish | Study-wide | 40 | T=0.25 | G=0.75 |
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 20 | NC_000020.11:g.46119308T>A |
GRCh38.p14 chr 20 | NC_000020.11:g.46119308T>G |
GRCh37.p13 chr 20 | NC_000020.10:g.44747947T>A |
GRCh37.p13 chr 20 | NC_000020.10:g.44747947T>G |
CD40 RefSeqGene (LRG_40) | NG_007279.1:g.6042T>A |
CD40 RefSeqGene (LRG_40) | NG_007279.1:g.6042T>G |
Molecule type | Change | Amino acid[Codon] | SO Term |
---|---|---|---|
CD40 transcript variant 1 | NM_001250.6:c.51+914T>A | N/A | Intron Variant |
CD40 transcript variant 3 | NM_001302753.2:c.51+914T>A | N/A | Intron Variant |
CD40 transcript variant 5 | NM_001322421.2:c.51+914T>A | N/A | Intron Variant |
CD40 transcript variant 6 | NM_001322422.2:c.51+914T>A | N/A | Intron Variant |
CD40 transcript variant 8 | NM_001362758.2:c.51+914T>A | N/A | Intron Variant |
CD40 transcript variant 2 | NM_152854.4:c.51+914T>A | N/A | Intron Variant |
CD40 transcript variant 4 | NR_126502.2:n. | N/A | Intron Variant |
CD40 transcript variant 7 | NR_136327.2:n. | N/A | Intron Variant |
CD40 transcript variant X3 | XM_005260619.4:c.51+914T>A | N/A | Intron Variant |
CD40 transcript variant X5 | XM_011529109.3:c.51+914T>A | N/A | Intron Variant |
CD40 transcript variant X1 | XM_017028135.2:c.51+914T>A | N/A | Intron Variant |
CD40 transcript variant X2 | XM_017028136.2:c.51+914T>A | N/A | Intron Variant |
CD40 transcript variant X4 | XM_047440601.1:c. | N/A | Genic Upstream 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.
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 | T= | A | G |
---|---|---|---|
GRCh38.p14 chr 20 | NC_000020.11:g.46119308= | NC_000020.11:g.46119308T>A | NC_000020.11:g.46119308T>G |
GRCh37.p13 chr 20 | NC_000020.10:g.44747947= | NC_000020.10:g.44747947T>A | NC_000020.10:g.44747947T>G |
CD40 RefSeqGene (LRG_40) | NG_007279.1:g.6042= | NG_007279.1:g.6042T>A | NG_007279.1:g.6042T>G |
CD40 transcript variant 1 | NM_001250.4:c.51+914= | NM_001250.4:c.51+914T>A | NM_001250.4:c.51+914T>G |
CD40 transcript variant 1 | NM_001250.6:c.51+914= | NM_001250.6:c.51+914T>A | NM_001250.6:c.51+914T>G |
CD40 transcript variant 3 | NM_001302753.2:c.51+914= | NM_001302753.2:c.51+914T>A | NM_001302753.2:c.51+914T>G |
CD40 transcript variant 5 | NM_001322421.2:c.51+914= | NM_001322421.2:c.51+914T>A | NM_001322421.2:c.51+914T>G |
CD40 transcript variant 6 | NM_001322422.2:c.51+914= | NM_001322422.2:c.51+914T>A | NM_001322422.2:c.51+914T>G |
CD40 transcript variant 8 | NM_001362758.2:c.51+914= | NM_001362758.2:c.51+914T>A | NM_001362758.2:c.51+914T>G |
CD40 transcript variant 2 | NM_152854.2:c.51+914= | NM_152854.2:c.51+914T>A | NM_152854.2:c.51+914T>G |
CD40 transcript variant 2 | NM_152854.4:c.51+914= | NM_152854.4:c.51+914T>A | NM_152854.4:c.51+914T>G |
CD40 transcript variant X1 | XM_005260617.1:c.51+914= | XM_005260617.1:c.51+914T>A | XM_005260617.1:c.51+914T>G |
CD40 transcript variant X2 | XM_005260618.1:c.51+914= | XM_005260618.1:c.51+914T>A | XM_005260618.1:c.51+914T>G |
CD40 transcript variant X3 | XM_005260619.1:c.51+914= | XM_005260619.1:c.51+914T>A | XM_005260619.1:c.51+914T>G |
CD40 transcript variant X3 | XM_005260619.4:c.51+914= | XM_005260619.4:c.51+914T>A | XM_005260619.4:c.51+914T>G |
CD40 transcript variant X4 | XM_005260620.1:c.51+914= | XM_005260620.1:c.51+914T>A | XM_005260620.1:c.51+914T>G |
CD40 transcript variant X5 | XM_011529109.3:c.51+914= | XM_011529109.3:c.51+914T>A | XM_011529109.3:c.51+914T>G |
CD40 transcript variant X1 | XM_017028135.2:c.51+914= | XM_017028135.2:c.51+914T>A | XM_017028135.2:c.51+914T>G |
CD40 transcript variant X2 | XM_017028136.2:c.51+914= | XM_017028136.2:c.51+914T>A | XM_017028136.2:c.51+914T>G |
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 | WI_SSAHASNP | ss6639940 | Feb 20, 2003 (111) |
2 | SC_SNP | ss8338770 | Apr 21, 2003 (114) |
3 | EGP_SNPS | ss16340714 | Feb 27, 2004 (120) |
4 | CSHL-HAPMAP | ss16887953 | Feb 27, 2004 (120) |
5 | CSHL-HAPMAP | ss17691020 | Feb 27, 2004 (120) |
6 | CSHL-HAPMAP | ss19472072 | Feb 27, 2004 (120) |
7 | SSAHASNP | ss21804057 | Apr 05, 2004 (121) |
8 | PERLEGEN | ss24085223 | Sep 21, 2004 (123) |
9 | ABI | ss44229012 | Mar 15, 2006 (126) |
10 | ILLUMINA | ss65777366 | Oct 14, 2006 (127) |
11 | AFFY | ss66200218 | Nov 29, 2006 (127) |
12 | EGP_SNPS | ss66857073 | Nov 29, 2006 (127) |
13 | ILLUMINA | ss74911717 | Dec 07, 2007 (129) |
14 | AFFY | ss76286762 | Dec 08, 2007 (130) |
15 | HGSV | ss77118071 | Dec 07, 2007 (129) |
16 | KRIBB_YJKIM | ss82130849 | Dec 15, 2007 (130) |
17 | BCMHGSC_JDW | ss91709920 | Mar 24, 2008 (129) |
18 | BGI | ss103761078 | Dec 01, 2009 (131) |
19 | KRIBB_YJKIM | ss104801966 | Feb 06, 2009 (130) |
20 | 1000GENOMES | ss112027323 | Jan 25, 2009 (130) |
21 | 1000GENOMES | ss113382644 | Jan 25, 2009 (130) |
22 | ILLUMINA-UK | ss117558196 | Feb 14, 2009 (130) |
23 | ENSEMBL | ss133052377 | Dec 01, 2009 (131) |
24 | ENSEMBL | ss138249509 | Dec 01, 2009 (131) |
25 | ILLUMINA | ss160714910 | Dec 01, 2009 (131) |
26 | COMPLETE_GENOMICS | ss168198529 | Jul 04, 2010 (132) |
27 | COMPLETE_GENOMICS | ss169718446 | Jul 04, 2010 (132) |
28 | COMPLETE_GENOMICS | ss172117102 | Jul 04, 2010 (132) |
29 | AFFY | ss173130198 | Jul 04, 2010 (132) |
30 | ILLUMINA | ss173825119 | Jul 04, 2010 (132) |
31 | BUSHMAN | ss203901001 | Jul 04, 2010 (132) |
32 | BCM-HGSC-SUB | ss208732735 | Jul 04, 2010 (132) |
33 | 1000GENOMES | ss228373711 | Jul 14, 2010 (132) |
34 | WTCCC | ss230392607 | Jul 04, 2010 (132) |
35 | 1000GENOMES | ss237846554 | Jul 15, 2010 (132) |
36 | 1000GENOMES | ss244014526 | Jul 15, 2010 (132) |
37 | ILLUMINA | ss244301499 | Jul 04, 2010 (132) |
38 | BL | ss255668070 | May 09, 2011 (134) |
39 | GMI | ss283395023 | May 04, 2012 (137) |
40 | GMI | ss287463508 | Apr 25, 2013 (138) |
41 | PJP | ss292660303 | May 09, 2011 (134) |
42 | ILLUMINA | ss410936446 | Sep 17, 2011 (135) |
43 | ILLUMINA | ss481058205 | May 04, 2012 (137) |
44 | ILLUMINA | ss481079880 | May 04, 2012 (137) |
45 | ILLUMINA | ss482073822 | Sep 08, 2015 (146) |
46 | ILLUMINA | ss485324119 | May 04, 2012 (137) |
47 | EXOME_CHIP | ss491561707 | May 04, 2012 (137) |
48 | ILLUMINA | ss537277844 | Sep 08, 2015 (146) |
49 | TISHKOFF | ss566275475 | Apr 25, 2013 (138) |
50 | SSMP | ss662157319 | Apr 25, 2013 (138) |
51 | ILLUMINA | ss780675779 | Sep 08, 2015 (146) |
52 | ILLUMINA | ss780685375 | Sep 08, 2015 (146) |
53 | ILLUMINA | ss783107874 | Sep 08, 2015 (146) |
54 | ILLUMINA | ss783358861 | Sep 08, 2015 (146) |
55 | ILLUMINA | ss784064941 | Sep 08, 2015 (146) |
56 | ILLUMINA | ss832366511 | Sep 08, 2015 (146) |
57 | ILLUMINA | ss836172137 | Sep 08, 2015 (146) |
58 | EVA-GONL | ss994766209 | Aug 21, 2014 (142) |
59 | JMKIDD_LAB | ss1082236554 | Aug 21, 2014 (142) |
60 | 1000GENOMES | ss1364952523 | Aug 21, 2014 (142) |
61 | DDI | ss1429066389 | Apr 01, 2015 (144) |
62 | EVA_GENOME_DK | ss1579522710 | Apr 01, 2015 (144) |
63 | EVA_UK10K_ALSPAC | ss1638877086 | Apr 01, 2015 (144) |
64 | EVA_UK10K_TWINSUK | ss1681871119 | Apr 01, 2015 (144) |
65 | EVA_DECODE | ss1698826958 | Apr 01, 2015 (144) |
66 | EVA_SVP | ss1713697236 | Apr 01, 2015 (144) |
67 | ILLUMINA | ss1752388799 | Sep 08, 2015 (146) |
68 | ILLUMINA | ss1752388800 | Sep 08, 2015 (146) |
69 | HAMMER_LAB | ss1809520771 | Sep 08, 2015 (146) |
70 | ILLUMINA | ss1917947979 | Feb 12, 2016 (147) |
71 | WEILL_CORNELL_DGM | ss1938280124 | Feb 12, 2016 (147) |
72 | ILLUMINA | ss1946553561 | Feb 12, 2016 (147) |
73 | ILLUMINA | ss1946553562 | Feb 12, 2016 (147) |
74 | ILLUMINA | ss1959919458 | Feb 12, 2016 (147) |
75 | ILLUMINA | ss1959919459 | Feb 12, 2016 (147) |
76 | GENOMED | ss1969141596 | Jul 19, 2016 (147) |
77 | JJLAB | ss2029920224 | Sep 14, 2016 (149) |
78 | ILLUMINA | ss2094919304 | Dec 20, 2016 (150) |
79 | ILLUMINA | ss2095115402 | Dec 20, 2016 (150) |
80 | ILLUMINA | ss2095115403 | Dec 20, 2016 (150) |
81 | USC_VALOUEV | ss2158488175 | Dec 20, 2016 (150) |
82 | HUMAN_LONGEVITY | ss2243135346 | Dec 20, 2016 (150) |
83 | SYSTEMSBIOZJU | ss2629453529 | Nov 08, 2017 (151) |
84 | ILLUMINA | ss2633803421 | Nov 08, 2017 (151) |
85 | ILLUMINA | ss2633803422 | Nov 08, 2017 (151) |
86 | ILLUMINA | ss2633803423 | Nov 08, 2017 (151) |
87 | GRF | ss2704180905 | Nov 08, 2017 (151) |
88 | ILLUMINA | ss2710940316 | Nov 08, 2017 (151) |
89 | GNOMAD | ss2967938217 | Nov 08, 2017 (151) |
90 | AFFY | ss2985216836 | Nov 08, 2017 (151) |
91 | AFFY | ss2985835517 | Nov 08, 2017 (151) |
92 | SWEGEN | ss3018254433 | Nov 08, 2017 (151) |
93 | ILLUMINA | ss3022123826 | Nov 08, 2017 (151) |
94 | BIOINF_KMB_FNS_UNIBA | ss3028792785 | Nov 08, 2017 (151) |
95 | CSHL | ss3352530165 | Nov 08, 2017 (151) |
96 | ILLUMINA | ss3625788692 | Oct 12, 2018 (152) |
97 | ILLUMINA | ss3628402047 | Oct 12, 2018 (152) |
98 | ILLUMINA | ss3628402048 | Oct 12, 2018 (152) |
99 | ILLUMINA | ss3631759661 | Oct 12, 2018 (152) |
100 | ILLUMINA | ss3633252456 | Oct 12, 2018 (152) |
101 | ILLUMINA | ss3633966653 | Oct 12, 2018 (152) |
102 | ILLUMINA | ss3634838113 | Oct 12, 2018 (152) |
103 | ILLUMINA | ss3634838114 | Oct 12, 2018 (152) |
104 | ILLUMINA | ss3635651705 | Oct 12, 2018 (152) |
105 | ILLUMINA | ss3636531759 | Oct 12, 2018 (152) |
106 | ILLUMINA | ss3637403794 | Oct 12, 2018 (152) |
107 | ILLUMINA | ss3638348607 | Oct 12, 2018 (152) |
108 | ILLUMINA | ss3640545411 | Oct 12, 2018 (152) |
109 | ILLUMINA | ss3640545412 | Oct 12, 2018 (152) |
110 | ILLUMINA | ss3643311178 | Oct 12, 2018 (152) |
111 | ILLUMINA | ss3644783957 | Oct 12, 2018 (152) |
112 | ILLUMINA | ss3644783958 | Oct 12, 2018 (152) |
113 | URBANLAB | ss3651028311 | Oct 12, 2018 (152) |
114 | ILLUMINA | ss3652580103 | Oct 12, 2018 (152) |
115 | ILLUMINA | ss3652580104 | Oct 12, 2018 (152) |
116 | ILLUMINA | ss3653985842 | Oct 12, 2018 (152) |
117 | EGCUT_WGS | ss3684941293 | Jul 13, 2019 (153) |
118 | EVA_DECODE | ss3707035163 | Jul 13, 2019 (153) |
119 | ILLUMINA | ss3725919552 | Jul 13, 2019 (153) |
120 | ACPOP | ss3743431086 | Jul 13, 2019 (153) |
121 | ILLUMINA | ss3744198239 | Jul 13, 2019 (153) |
122 | ILLUMINA | ss3744494533 | Jul 13, 2019 (153) |
123 | ILLUMINA | ss3745138009 | Jul 13, 2019 (153) |
124 | ILLUMINA | ss3745138010 | Jul 13, 2019 (153) |
125 | EVA | ss3758698806 | Jul 13, 2019 (153) |
126 | PAGE_CC | ss3772051310 | Jul 13, 2019 (153) |
127 | ILLUMINA | ss3772634177 | Jul 13, 2019 (153) |
128 | ILLUMINA | ss3772634178 | Jul 13, 2019 (153) |
129 | PACBIO | ss3788659037 | Jul 13, 2019 (153) |
130 | PACBIO | ss3793548388 | Jul 13, 2019 (153) |
131 | PACBIO | ss3798435344 | Jul 13, 2019 (153) |
132 | KHV_HUMAN_GENOMES | ss3821858854 | Jul 13, 2019 (153) |
133 | EVA | ss3835694099 | Apr 27, 2020 (154) |
134 | EVA | ss3841470921 | Apr 27, 2020 (154) |
135 | EVA | ss3846983857 | Apr 27, 2020 (154) |
136 | SGDP_PRJ | ss3889194946 | Apr 27, 2020 (154) |
137 | KRGDB | ss3939493450 | Apr 27, 2020 (154) |
138 | KOGIC | ss3982371834 | Apr 27, 2020 (154) |
139 | EVA | ss3984750644 | Apr 27, 2021 (155) |
140 | EVA | ss3984750645 | Apr 27, 2021 (155) |
141 | EVA | ss3985882034 | Apr 27, 2021 (155) |
142 | TOPMED | ss5090213119 | Apr 27, 2021 (155) |
143 | TOMMO_GENOMICS | ss5229854911 | Apr 27, 2021 (155) |
144 | 1000G_HIGH_COVERAGE | ss5308957482 | Oct 16, 2022 (156) |
145 | EVA | ss5316010585 | Oct 16, 2022 (156) |
146 | EVA | ss5437699657 | Oct 16, 2022 (156) |
147 | HUGCELL_USP | ss5501220802 | Oct 16, 2022 (156) |
148 | EVA | ss5512230904 | Oct 16, 2022 (156) |
149 | EVA | ss5512473581 | Oct 16, 2022 (156) |
150 | 1000G_HIGH_COVERAGE | ss5615495917 | Oct 16, 2022 (156) |
151 | SANFORD_IMAGENETICS | ss5624486722 | Oct 16, 2022 (156) |
152 | SANFORD_IMAGENETICS | ss5663300892 | Oct 16, 2022 (156) |
153 | TOMMO_GENOMICS | ss5789717522 | Oct 16, 2022 (156) |
154 | EVA | ss5800023082 | Oct 16, 2022 (156) |
155 | YY_MCH | ss5818082563 | Oct 16, 2022 (156) |
156 | EVA | ss5845755108 | Oct 16, 2022 (156) |
157 | EVA | ss5847506563 | Oct 16, 2022 (156) |
158 | EVA | ss5847922613 | Oct 16, 2022 (156) |
159 | EVA | ss5853158990 | Oct 16, 2022 (156) |
160 | EVA | ss5923611776 | Oct 16, 2022 (156) |
161 | EVA | ss5958223424 | Oct 16, 2022 (156) |
162 | EVA | ss5979617659 | Oct 16, 2022 (156) |
163 | 1000Genomes | NC_000020.10 - 44747947 | Oct 12, 2018 (152) |
164 | 1000Genomes_30x | NC_000020.11 - 46119308 | Oct 16, 2022 (156) |
165 | The Avon Longitudinal Study of Parents and Children | NC_000020.10 - 44747947 | Oct 12, 2018 (152) |
166 | Genetic variation in the Estonian population | NC_000020.10 - 44747947 | Oct 12, 2018 (152) |
167 | The Danish reference pan genome | NC_000020.10 - 44747947 | Apr 27, 2020 (154) |
168 | gnomAD - Genomes | NC_000020.11 - 46119308 | Apr 27, 2021 (155) |
169 | Genome of the Netherlands Release 5 | NC_000020.10 - 44747947 | Apr 27, 2020 (154) |
170 | HapMap | NC_000020.11 - 46119308 | Apr 27, 2020 (154) |
171 | KOREAN population from KRGDB | NC_000020.10 - 44747947 | Apr 27, 2020 (154) |
172 | Korean Genome Project | NC_000020.11 - 46119308 | Apr 27, 2020 (154) |
173 | Northern Sweden | NC_000020.10 - 44747947 | Jul 13, 2019 (153) |
174 | The PAGE Study | NC_000020.11 - 46119308 | Jul 13, 2019 (153) |
175 | Ancient Sardinia genome-wide 1240k capture data generation and analysis | NC_000020.10 - 44747947 | Apr 27, 2021 (155) |
176 |
CNV burdens in cranial meningiomas
Submission ignored due to conflicting rows: |
- | Apr 27, 2021 (155) |
177 |
CNV burdens in cranial meningiomas
Submission ignored due to conflicting rows: |
- | Apr 27, 2021 (155) |
178 | Qatari | NC_000020.10 - 44747947 | Apr 27, 2020 (154) |
179 | SGDP_PRJ | NC_000020.10 - 44747947 | Apr 27, 2020 (154) |
180 | Siberian | NC_000020.10 - 44747947 | Apr 27, 2020 (154) |
181 | 8.3KJPN | NC_000020.10 - 44747947 | Apr 27, 2021 (155) |
182 | 14KJPN | NC_000020.11 - 46119308 | Oct 16, 2022 (156) |
183 | TopMed | NC_000020.11 - 46119308 | Apr 27, 2021 (155) |
184 | UK 10K study - Twins | NC_000020.10 - 44747947 | Oct 12, 2018 (152) |
185 | A Vietnamese Genetic Variation Database | NC_000020.10 - 44747947 | Jul 13, 2019 (153) |
186 | ALFA | NC_000020.11 - 46119308 | Apr 27, 2021 (155) |
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) |
---|---|
rs17841920 | Oct 07, 2004 (123) |
rs56530668 | May 26, 2008 (130) |
rs60204642 | Feb 27, 2009 (130) |
Submission IDs | Observation SPDI | Canonical SPDI | Source RSIDs |
---|---|---|---|
46670844, ss3939493450 | NC_000020.10:44747946:T:A | NC_000020.11:46119307:T:A | (self) |
3699199675, ss2243135346 | NC_000020.11:46119307:T:A | NC_000020.11:46119307:T:A | (self) |
ss66200218, ss76286762, ss77118071, ss91709920, ss112027323, ss113382644, ss117558196, ss168198529, ss169718446, ss172117102, ss173130198, ss203901001, ss208732735, ss255668070, ss283395023, ss287463508, ss292660303, ss481058205, ss1698826958, ss1713697236, ss2094919304, ss3643311178 | NC_000020.9:44181353:T:G | NC_000020.11:46119307:T:G | (self) |
78422016, 43414040, 30679541, 5687649, 19337888, 46670844, 16715951, 1107961, 20322046, 41211926, 11004529, 87824218, 43414040, 9577398, ss228373711, ss237846554, ss244014526, ss481079880, ss482073822, ss485324119, ss491561707, ss537277844, ss566275475, ss662157319, ss780675779, ss780685375, ss783107874, ss783358861, ss784064941, ss832366511, ss836172137, ss994766209, ss1082236554, ss1364952523, ss1429066389, ss1579522710, ss1638877086, ss1681871119, ss1752388799, ss1752388800, ss1809520771, ss1917947979, ss1938280124, ss1946553561, ss1946553562, ss1959919458, ss1959919459, ss1969141596, ss2029920224, ss2095115402, ss2095115403, ss2158488175, ss2629453529, ss2633803421, ss2633803422, ss2633803423, ss2704180905, ss2710940316, ss2967938217, ss2985216836, ss2985835517, ss3018254433, ss3022123826, ss3352530165, ss3625788692, ss3628402047, ss3628402048, ss3631759661, ss3633252456, ss3633966653, ss3634838113, ss3634838114, ss3635651705, ss3636531759, ss3637403794, ss3638348607, ss3640545411, ss3640545412, ss3644783957, ss3644783958, ss3652580103, ss3652580104, ss3653985842, ss3684941293, ss3743431086, ss3744198239, ss3744494533, ss3745138009, ss3745138010, ss3758698806, ss3772634177, ss3772634178, ss3788659037, ss3793548388, ss3798435344, ss3835694099, ss3841470921, ss3889194946, ss3939493450, ss3984750644, ss3984750645, ss3985882034, ss5229854911, ss5316010585, ss5437699657, ss5512230904, ss5512473581, ss5624486722, ss5663300892, ss5800023082, ss5845755108, ss5847506563, ss5847922613, ss5958223424, ss5979617659 | NC_000020.10:44747946:T:G | NC_000020.11:46119307:T:G | (self) |
103021852, 553177105, 2132424, 38749835, 1272779, 123554626, 365322064, 3699199675, ss2243135346, ss3028792785, ss3651028311, ss3707035163, ss3725919552, ss3772051310, ss3821858854, ss3846983857, ss3982371834, ss5090213119, ss5308957482, ss5501220802, ss5615495917, ss5789717522, ss5818082563, ss5853158990, ss5923611776 | NC_000020.11:46119307:T:G | NC_000020.11:46119307:T:G | (self) |
ss16887953, ss17691020, ss19472072, ss21804057 | NT_011362.8:9800854:T:G | NC_000020.11:46119307:T:G | (self) |
ss230392607 | NT_011362.9:9800854:T:G | NC_000020.11:46119307:T:G | (self) |
ss6639940, ss8338770, ss16340714, ss24085223, ss44229012, ss65777366, ss66857073, ss74911717, ss82130849, ss103761078, ss104801966, ss133052377, ss138249509, ss160714910, ss173825119, ss244301499, ss410936446 | NT_011362.10:14944038:T:G | NC_000020.11:46119307:T:G | (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 |
---|---|---|---|---|
18794853 | Common variants at CD40 and other loci confer risk of rheumatoid arthritis. | Raychaudhuri S et al. | 2008 | Nature genetics |
19159017 | STAT2*C related genotypes and allele but not TLR4 and CD40 gene polymorphisms are associated with higher susceptibility for asthma. | Hsieh YY et al. | 2009 | International journal of biological sciences |
19180477 | Genetic risk factors for rheumatoid arthritis differ in Caucasian and Korean populations. | Lee HS et al. | 2009 | Arthritis and rheumatism |
19435719 | Association of CD40 with rheumatoid arthritis confirmed in a large UK case-control study. | Orozco G et al. | 2010 | Annals of the rheumatic diseases |
19644859 | Association of a single-nucleotide polymorphism in CD40 with the rate of joint destruction in rheumatoid arthritis. | van der Linden MP et al. | 2009 | Arthritis and rheumatism |
19674979 | Overlap of disease susceptibility loci for rheumatoid arthritis and juvenile idiopathic arthritis. | Hinks A et al. | 2010 | Annals of the rheumatic diseases |
19898481 | Genetic variants at CD28, PRDM1 and CD2/CD58 are associated with rheumatoid arthritis risk. | Raychaudhuri S et al. | 2009 | Nature genetics |
20018027 | Conditional analysis of the major histocompatibility complex in rheumatoid arthritis. | Taylor KE et al. | 2009 | BMC proceedings |
20075733 | Recent advances in the genetics of rheumatoid arthritis. | Raychaudhuri S et al. | 2010 | Current opinion in rheumatology |
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 |
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 |
20426808 | AntEpiSeeker: detecting epistatic interactions for case-control studies using a two-stage ant colony optimization algorithm. | Wang Y et al. | 2010 | BMC research notes |
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 |
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 |
20805105 | Synthetic associations in the context of genome-wide association scan signals. | Orozco G et al. | 2010 | Human molecular genetics |
20933377 | Recent findings on genetics of systemic autoimmune diseases. | Delgado-Vega A et al. | 2010 | Current opinion in immunology |
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 |
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 |
21645569 | A CD40 and an NCOA5 gene polymorphism confer susceptibility to psoriasis in a Southern European population: a case-control study. | Zervou MI et al. | 2011 | Human immunology |
21765104 | Evaluation of 19 autoimmune disease-associated loci with rheumatoid arthritis in a Colombian population: evidence for replication and gene-gene interaction. | Deshmukh HA et al. | 2011 | The Journal of rheumatology |
21912605 | Association of CD40 gene polymorphisms with sporadic breast cancer in Chinese Han women of Northeast China. | Shuang C et al. | 2011 | PloS one |
21914625 | A common SNP in the CD40 region is associated with systemic lupus erythematosus and correlates with altered CD40 expression: implications for the pathogenesis. | Vazgiourakis VM et al. | 2011 | Annals of the rheumatic diseases |
21931699 | Genetic risk score predicting risk of rheumatoid arthritis phenotypes and age of symptom onset. | Chibnik LB et al. | 2011 | PloS one |
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 |
22087016 | CD40 gene polymorphisms confer risk of Behcet's disease but not of Vogt-Koyanagi-Harada syndrome in a Han Chinese population. | Chen F et al. | 2012 | Rheumatology (Oxford, England) |
22190364 | Genome-wide meta-analysis identifies novel multiple sclerosis susceptibility loci. | Patsopoulos NA et al. | 2011 | Annals of neurology |
22328738 | Comprehensive assessment of rheumatoid arthritis susceptibility loci in a large psoriatic arthritis cohort. | Bowes J et al. | 2012 | Annals of the rheumatic diseases |
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 |
22645426 | CD40 Gene polymorphisms associated with susceptibility and coronary artery lesions of Kawasaki disease in the Taiwanese population. | Kuo HC et al. | 2012 | TheScientificWorldJournal |
22661644 | Genetic markers of rheumatoid arthritis susceptibility in anti-citrullinated peptide antibody negative patients. | Viatte S et al. | 2012 | Annals of the rheumatic diseases |
22731751 | Analysis of the association between CD40 and CD40 ligand polymorphisms and systemic sclerosis. | Teruel M et al. | 2012 | Arthritis research & therapy |
22753952 | Genetic susceptibility to lupus: the biological basis of genetic risk found in B cell signaling pathways. | Vaughn SE et al. | 2012 | Journal of leukocyte biology |
23049851 | Potential of ayurgenomics approach in complex trait research: leads from a pilot study on rheumatoid arthritis. | Juyal RC et al. | 2012 | PloS one |
23121884 | Investigation of Caucasian rheumatoid arthritis susceptibility loci in African patients with the same disease. | Viatte S et al. | 2012 | Arthritis research & therapy |
23166616 | Study of association of CD40-CD154 gene polymorphisms with disease susceptibility and cardiovascular risk in Spanish rheumatoid arthritis patients. | García-Bermúdez M et al. | 2012 | PloS one |
23251581 | Meta-analysis of 125 rheumatoid arthritis-related single nucleotide polymorphisms studied in the past two decades. | Jiang Y et al. | 2012 | PloS one |
23256180 | Association of genetic polymorphisms in CD40 with susceptibility to SLE in the Korean population. | Joo YB et al. | 2013 | Rheumatology (Oxford, England) |
23326239 | A genome-wide integrative genomic study localizes genetic factors influencing antibodies against Epstein-Barr virus nuclear antigen 1 (EBNA-1). | Rubicz R et al. | 2013 | PLoS genetics |
23678157 | Integrative analyses for functional mechanisms underlying associations for rheumatoid arthritis. | Deng FY et al. | 2013 | The Journal of rheumatology |
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 |
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.) |
24828072 | The SNP rs1883832 in CD40 gene and risk of atherosclerosis in Chinese population: a meta-analysis. | Yun Y et al. | 2014 | PloS one |
25034154 | Clinical perspectives on lupus genetics: advances and opportunities. | James JA et al. | 2014 | Rheumatic diseases clinics of North America |
25305459 | Lack of association between CD40 polymorphisms and acute rejection in German liver transplant recipients. | Thude H et al. | 2014 | Human immunology |
25373542 | Associations of rs4810485 and rs1883832 polymorphisms of CD40 gene with susceptibility and clinical findings of Behçet's disease. | İnal EE et al. | 2015 | Rheumatology international |
25908480 | Associations between the functional CD40 rs4810485 G/T polymorphism and susceptibility to rheumatoid arthritis and systemic lupus erythematosus: a meta-analysis. | Lee YH et al. | 2015 | Lupus |
26474561 | The association of CD40 polymorphisms with CD40 serum levels and risk of systemic lupus erythematosus. | Chen JM et al. | 2015 | BMC genetics |
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 |
27014188 | Dissecting the Genetic Susceptibility to Graves' Disease in a Cohort of Patients of Italian Origin. | Lombardi A et al. | 2016 | Frontiers in endocrinology |
27073425 | Candidate gene polymorphisms and risk of psoriasis: A pilot study. | Villarreal-Martínez A et al. | 2016 | Experimental and therapeutic medicine |
27578014 | Association of CD40 Gene Polymorphisms with Susceptibility to Neuromyelitis Optica Spectrum Disorders. | Shi Z et al. | 2017 | Molecular neurobiology |
27722794 | Gene-gene interaction between CD40 and CD226 gene on systemic lupus erythematosus in the Chinese Han population. | Nie D et al. | 2016 | Rheumatology international |
27875792 | Investigation of CD40 gene rs4810485 and rs1883832 mutations in patients with recurrent aphthous stomatitis. | Yigit S et al. | 2017 | Archives of oral biology |
28181356 | CD40 polymorphism in cervical carcinoma in a subset of Malaysian population. | Krishnappa P et al. | 2017 | The journal of obstetrics and gynaecology research |
28320398 | Single nucleotide polymorphisms in the CD40 gene associate with the disease susceptibility and severity in knee osteoarthritis in the Chinese Han population: a case-control study. | Deng ZH et al. | 2017 | BMC musculoskeletal disorders |
29214033 | Lupus-related single nucleotide polymorphisms and risk of diffuse large B-cell lymphoma. | Bernatsky S et al. | 2017 | Lupus science & medicine |
29361022 | Multiple sclerosis risk variants alter expression of co-stimulatory genes in B cells. | Smets I et al. | 2018 | Brain |
30511624 | Investigation of association between CD40 current gene variants (rs4810485, rs1883832 and rs3765459) and serum CD154 protein levels in Iranian migraineurs. | Ramroodi N et al. | 2018 | Cellular and molecular biology (Noisy-le-Grand, France) |
30878028 | Potential Markers of Autoimmune Diseases, Alleles rs115662534(T) and rs548231435(C), Disrupt the Binding of Transcription Factors STAT1 and EBF1 to the Regulatory Elements of Human CD40 Gene. | Putlyaeva LV et al. | 2018 | Biochemistry. Biokhimiia |
30924686 | Associations of rs1883832 and rs4810485 polymorphisms of CD40 gene with myocardial infarction in the Tunisian population. | Soussi M et al. | 2019 | Biomarkers |
31183392 | Analysis of Genetic Variation in CD40 and CD40L: Relationship with mRNA Relative Expression and Soluble Proteins in Acute Coronary Syndrome. | Martínez-Fernández DE et al. | 2019 | Journal of immunology research |
31217170 | Association of Epstein-Barr virus serological reactivation with transitioning to systemic lupus erythematosus in at-risk individuals. | Jog NR et al. | 2019 | Annals of the rheumatic diseases |
31570051 | Association between CD40 polymorphisms and systemic lupus erythematosus and correlation between soluble CD40 and CD40 ligand levels in the disease: a meta-analysis. | Bae SC et al. | 2019 | Lupus |
31615434 | CD40 polymorphisms were associated with HCV infection susceptibility among Chinese population. | Tian T et al. | 2019 | BMC infectious diseases |
31642196 | Association of soluble CD40 levels with -1 C > T CD40 polymorphism and chronic kidney disease in systemic lupus erythematosus. | Tapia-Llanos R et al. | 2019 | Molecular genetics & genomic medicine |
32018016 | Impact of CD40 gene polymorphisms on the risk of immune thrombocytopenic purpura. | AbdelGhafar MT et al. | 2020 | Gene |
32507051 | IRAK1 Gene Polymorphism in Rheumatoid Arthritis. | Hosseini N et al. | 2021 | Immunological investigations |
32831971 | Investigating the GWAS-Implicated Loci for Rheumatoid Arthritis in the Pakistani Population. | Aslam MM et al. | 2020 | Disease markers |
32929287 | Complex genetic signatures in immune cells underlie autoimmunity and inform therapy. | Orrù V et al. | 2020 | Nature genetics |
33374413 | Tracking the Genetic Susceptibility Background of B-Cell Non-Hodgkin's Lymphomas from Genome-Wide Association Studies. | Hernández-Verdin I et al. | 2020 | International journal of molecular sciences |
33968033 | Association of CD40 Gene Polymorphisms With Systemic Lupus Erythematosus and Rheumatoid Arthritis in a Chinese Han Population. | Huang Q et al. | 2021 | Frontiers in immunology |
35088123 | Genetics of rheumatoid arthritis. | Padyukov L et al. | 2022 | Seminars in immunopathology |
35107652 | A CD40 variant is associated with systemic bone loss among patients with rheumatoid arthritis. | Sghiri R et al. | 2022 | Clinical rheumatology |
35920091 | Association of CD40 gene polymorphisms and immune thrombocytopenic purpura in the adult Egyptian population. | Ellithy HN et al. | 2022 | Blood research |
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.