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dbSNP Short Genetic Variations

Examples: rs268, BRCA1 and more Advanced search

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.

rs2222631

Current Build 156

Released September 21, 2022

Organism
Homo sapiens
Position
chr3:119553544 (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
Variation Type
SNV Single Nucleotide Variation
Frequency
G=0.446443 (118169/264690, TOPMED)
G=0.456313 (63872/139974, GnomAD)
A=0.48946 (36029/73610, ALFA) (+ 20 more)
G=0.44214 (12494/28258, 14KJPN)
G=0.44314 (7427/16760, 8.3KJPN)
G=0.4332 (2774/6404, 1000G_30x)
G=0.4401 (2204/5008, 1000G)
A=0.4520 (2025/4480, Estonian)
A=0.4709 (1815/3854, ALSPAC)
A=0.4655 (1726/3708, TWINSUK)
G=0.4741 (1389/2930, KOREAN)
G=0.4554 (949/2084, HGDP_Stanford)
G=0.3858 (730/1892, HapMap)
G=0.4503 (825/1832, Korea1K)
A=0.439 (438/998, GoNL)
G=0.493 (296/600, NorthernSweden)
G=0.287 (128/446, SGDP_PRJ)
G=0.449 (97/216, Qatari)
A=0.449 (97/216, Vietnamese)
G=0.50 (46/92, Ancient Sardinia)
A=0.50 (46/92, Ancient Sardinia)
G=0.27 (12/44, Siberian)
G=0.38 (15/40, GENOME_DK)
Clinical Significance
Not Reported in ClinVar
Gene : Consequence
CD80 : Intron Variant
Publications
2 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.

Release Version: 20230706150541
Population Group Sample Size Ref Allele Alt Allele
Total Global 73610 G=0.51054 A=0.48946
European Sub 60304 G=0.52829 A=0.47171
African Sub 4454 G=0.3130 A=0.6870
African Others Sub 180 G=0.322 A=0.678
African American Sub 4274 G=0.3126 A=0.6874
Asian Sub 188 G=0.532 A=0.468
East Asian Sub 150 G=0.487 A=0.513
Other Asian Sub 38 G=0.71 A=0.29
Latin American 1 Sub 260 G=0.481 A=0.519
Latin American 2 Sub 1294 G=0.4281 A=0.5719
South Asian Sub 4900 G=0.5018 A=0.4982
Other Sub 2210 G=0.4937 A=0.5063


Help

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").

Download
Study Population Group Sample Size Ref Allele Alt Allele
TopMed Global Study-wide 264690 G=0.446443 A=0.553557
gnomAD - Genomes Global Study-wide 139974 G=0.456313 A=0.543687
gnomAD - Genomes European Sub 75802 G=0.52881 A=0.47119
gnomAD - Genomes African Sub 41932 G=0.31155 A=0.68845
gnomAD - Genomes American Sub 13650 G=0.47260 A=0.52740
gnomAD - Genomes Ashkenazi Jewish Sub 3318 G=0.5440 A=0.4560
gnomAD - Genomes East Asian Sub 3122 G=0.4821 A=0.5179
gnomAD - Genomes Other Sub 2150 G=0.4474 A=0.5526
Allele Frequency Aggregator Total Global 73610 G=0.51054 A=0.48946
Allele Frequency Aggregator European Sub 60304 G=0.52829 A=0.47171
Allele Frequency Aggregator South Asian Sub 4900 G=0.5018 A=0.4982
Allele Frequency Aggregator African Sub 4454 G=0.3130 A=0.6870
Allele Frequency Aggregator Other Sub 2210 G=0.4937 A=0.5063
Allele Frequency Aggregator Latin American 2 Sub 1294 G=0.4281 A=0.5719
Allele Frequency Aggregator Latin American 1 Sub 260 G=0.481 A=0.519
Allele Frequency Aggregator Asian Sub 188 G=0.532 A=0.468
14KJPN JAPANESE Study-wide 28258 G=0.44214 A=0.55786
8.3KJPN JAPANESE Study-wide 16760 G=0.44314 A=0.55686
1000Genomes_30x Global Study-wide 6404 G=0.4332 A=0.5668
1000Genomes_30x African Sub 1786 G=0.2396 A=0.7604
1000Genomes_30x Europe Sub 1266 G=0.5205 A=0.4795
1000Genomes_30x South Asian Sub 1202 G=0.5308 A=0.4692
1000Genomes_30x East Asian Sub 1170 G=0.5000 A=0.5000
1000Genomes_30x American Sub 980 G=0.473 A=0.527
1000Genomes Global Study-wide 5008 G=0.4401 A=0.5599
1000Genomes African Sub 1322 G=0.2466 A=0.7534
1000Genomes East Asian Sub 1008 G=0.4980 A=0.5020
1000Genomes Europe Sub 1006 G=0.5288 A=0.4712
1000Genomes South Asian Sub 978 G=0.528 A=0.472
1000Genomes American Sub 694 G=0.473 A=0.527
Genetic variation in the Estonian population Estonian Study-wide 4480 G=0.5480 A=0.4520
The Avon Longitudinal Study of Parents and Children PARENT AND CHILD COHORT Study-wide 3854 G=0.5291 A=0.4709
UK 10K study - Twins TWIN COHORT Study-wide 3708 G=0.5345 A=0.4655
KOREAN population from KRGDB KOREAN Study-wide 2930 G=0.4741 A=0.5259
HGDP-CEPH-db Supplement 1 Global Study-wide 2084 G=0.4554 A=0.5446
HGDP-CEPH-db Supplement 1 Est_Asia Sub 470 G=0.472 A=0.528
HGDP-CEPH-db Supplement 1 Central_South_Asia Sub 414 G=0.440 A=0.560
HGDP-CEPH-db Supplement 1 Middle_Est Sub 350 G=0.471 A=0.529
HGDP-CEPH-db Supplement 1 Europe Sub 320 G=0.591 A=0.409
HGDP-CEPH-db Supplement 1 Africa Sub 242 G=0.149 A=0.851
HGDP-CEPH-db Supplement 1 America Sub 216 G=0.519 A=0.481
HGDP-CEPH-db Supplement 1 Oceania Sub 72 G=0.60 A=0.40
HapMap Global Study-wide 1892 G=0.3858 A=0.6142
HapMap American Sub 770 G=0.477 A=0.523
HapMap African Sub 692 G=0.233 A=0.767
HapMap Asian Sub 254 G=0.469 A=0.531
HapMap Europe Sub 176 G=0.472 A=0.528
Korean Genome Project KOREAN Study-wide 1832 G=0.4503 A=0.5497
Genome of the Netherlands Release 5 Genome of the Netherlands Study-wide 998 G=0.561 A=0.439
Northern Sweden ACPOP Study-wide 600 G=0.493 A=0.507
SGDP_PRJ Global Study-wide 446 G=0.287 A=0.713
Qatari Global Study-wide 216 G=0.449 A=0.551
A Vietnamese Genetic Variation Database Global Study-wide 216 G=0.551 A=0.449
Ancient Sardinia genome-wide 1240k capture data generation and analysis Global Study-wide 92 G=0.50 A=0.50
Siberian Global Study-wide 44 G=0.27 A=0.73
The Danish reference pan genome Danish Study-wide 40 G=0.38 A=0.62
Help

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.

Genomic Placements
Sequence name Change
GRCh38.p14 chr 3 NC_000003.12:g.119553544G>A
GRCh37.p13 chr 3 NC_000003.11:g.119272391G>A
Gene: CD80, CD80 molecule (minus strand)
Molecule type Change Amino acid[Codon] SO Term
CD80 transcript NM_005191.4:c.100+4085C>T N/A Intron Variant
Help

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.

Not Reported in ClinVar
Help

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
GRCh38.p14 chr 3 NC_000003.12:g.119553544= NC_000003.12:g.119553544G>A
GRCh37.p13 chr 3 NC_000003.11:g.119272391= NC_000003.11:g.119272391G>A
CD80 transcript NM_005191.3:c.100+4085= NM_005191.3:c.100+4085C>T
CD80 transcript NM_005191.4:c.100+4085= NM_005191.4:c.100+4085C>T
Help

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#.

117 SubSNP, 22 Frequency submissions
No Submitter Submission ID Date (Build)
1 TSC-CSHL ss3166385 Jun 15, 2001 (96)
2 SC_JCM ss3802999 Sep 28, 2001 (100)
3 SC_JCM ss4132867 Nov 05, 2001 (101)
4 BCM_SSAHASNP ss10082468 Jul 11, 2003 (116)
5 WI_SSAHASNP ss11594310 Jul 11, 2003 (116)
6 BCM_SSAHASNP ss14168782 Dec 05, 2003 (119)
7 CSHL-HAPMAP ss19507901 Feb 27, 2004 (120)
8 PERLEGEN ss24144239 Sep 20, 2004 (123)
9 ABI ss44433287 Mar 15, 2006 (126)
10 ILLUMINA ss67235042 Dec 01, 2006 (127)
11 ILLUMINA ss67631066 Dec 01, 2006 (127)
12 ILLUMINA ss68199494 Dec 12, 2006 (127)
13 PERLEGEN ss68873349 May 18, 2007 (127)
14 ILLUMINA ss70713386 May 25, 2008 (130)
15 ILLUMINA ss71280996 May 18, 2007 (127)
16 ILLUMINA ss75631811 Dec 06, 2007 (129)
17 HGSV ss81246551 Dec 15, 2007 (130)
18 KRIBB_YJKIM ss84000405 Dec 15, 2007 (130)
19 BCMHGSC_JDW ss92255219 Mar 24, 2008 (129)
20 BGI ss103977787 Dec 01, 2009 (131)
21 1000GENOMES ss110813673 Jan 25, 2009 (130)
22 1000GENOMES ss112405307 Jan 25, 2009 (130)
23 ILLUMINA-UK ss117246672 Feb 14, 2009 (130)
24 ENSEMBL ss139123795 Dec 01, 2009 (131)
25 ILLUMINA ss153886511 Dec 01, 2009 (131)
26 GMI ss156103869 Dec 01, 2009 (131)
27 ILLUMINA ss159369552 Dec 01, 2009 (131)
28 COMPLETE_GENOMICS ss162541316 Jul 04, 2010 (132)
29 COMPLETE_GENOMICS ss164094882 Jul 04, 2010 (132)
30 COMPLETE_GENOMICS ss167104319 Jul 04, 2010 (132)
31 ILLUMINA ss173188153 Jul 04, 2010 (132)
32 BUSHMAN ss203082061 Jul 04, 2010 (132)
33 BCM-HGSC-SUB ss206191707 Jul 04, 2010 (132)
34 1000GENOMES ss220385479 Jul 14, 2010 (132)
35 1000GENOMES ss232001245 Jul 14, 2010 (132)
36 1000GENOMES ss239378998 Jul 15, 2010 (132)
37 BL ss253433902 May 09, 2011 (134)
38 GMI ss277317527 May 04, 2012 (137)
39 PJP ss292897647 May 09, 2011 (134)
40 ILLUMINA ss484084818 May 04, 2012 (137)
41 ILLUMINA ss484443676 May 04, 2012 (137)
42 ILLUMINA ss536275038 Sep 08, 2015 (146)
43 TISHKOFF ss556895525 Apr 25, 2013 (138)
44 SSMP ss650607157 Apr 25, 2013 (138)
45 ILLUMINA ss780520576 Sep 08, 2015 (146)
46 ILLUMINA ss782487346 Sep 08, 2015 (146)
47 ILLUMINA ss832881381 Aug 21, 2014 (142)
48 ILLUMINA ss833472211 Aug 21, 2014 (142)
49 ILLUMINA ss836011965 Sep 08, 2015 (146)
50 EVA-GONL ss979076248 Aug 21, 2014 (142)
51 JMKIDD_LAB ss1070771709 Aug 21, 2014 (142)
52 1000GENOMES ss1305830102 Aug 21, 2014 (142)
53 DDI ss1429561779 Apr 01, 2015 (144)
54 EVA_GENOME_DK ss1580149442 Apr 01, 2015 (144)
55 EVA_DECODE ss1588557906 Apr 01, 2015 (144)
56 EVA_UK10K_ALSPAC ss1608043283 Apr 01, 2015 (144)
57 EVA_UK10K_TWINSUK ss1651037316 Apr 01, 2015 (144)
58 EVA_SVP ss1712606432 Apr 01, 2015 (144)
59 HAMMER_LAB ss1799922422 Sep 08, 2015 (146)
60 WEILL_CORNELL_DGM ss1922302819 Feb 12, 2016 (147)
61 GENOMED ss1969504309 Jul 19, 2016 (147)
62 JJLAB ss2021719030 Sep 14, 2016 (149)
63 ILLUMINA ss2094932518 Dec 20, 2016 (150)
64 ILLUMINA ss2095137417 Dec 20, 2016 (150)
65 USC_VALOUEV ss2149810925 Dec 20, 2016 (150)
66 HUMAN_LONGEVITY ss2255192057 Dec 20, 2016 (150)
67 SYSTEMSBIOZJU ss2625361503 Nov 08, 2017 (151)
68 ILLUMINA ss2634002248 Nov 08, 2017 (151)
69 GRF ss2705214198 Nov 08, 2017 (151)
70 GNOMAD ss2798196625 Nov 08, 2017 (151)
71 SWEGEN ss2993062496 Nov 08, 2017 (151)
72 BIOINF_KMB_FNS_UNIBA ss3024626252 Nov 08, 2017 (151)
73 CSHL ss3345228021 Nov 08, 2017 (151)
74 ILLUMINA ss3628757345 Oct 12, 2018 (152)
75 ILLUMINA ss3631945705 Oct 12, 2018 (152)
76 ILLUMINA ss3638437055 Oct 12, 2018 (152)
77 ILLUMINA ss3639221777 Oct 12, 2018 (152)
78 ILLUMINA ss3639911356 Oct 12, 2018 (152)
79 ILLUMINA ss3642277553 Oct 12, 2018 (152)
80 ILLUMINA ss3643392397 Oct 12, 2018 (152)
81 ILLUMINA ss3643958073 Oct 12, 2018 (152)
82 ILLUMINA ss3652756488 Oct 12, 2018 (152)
83 EGCUT_WGS ss3660989062 Jul 13, 2019 (153)
84 EVA_DECODE ss3710130946 Jul 13, 2019 (153)
85 ACPOP ss3730280363 Jul 13, 2019 (153)
86 EVA ss3760590073 Jul 13, 2019 (153)
87 PACBIO ss3784441138 Jul 13, 2019 (153)
88 PACBIO ss3789938963 Jul 13, 2019 (153)
89 PACBIO ss3794813383 Jul 13, 2019 (153)
90 KHV_HUMAN_GENOMES ss3803726824 Jul 13, 2019 (153)
91 EVA ss3828034577 Apr 25, 2020 (154)
92 EVA ss3837449685 Apr 25, 2020 (154)
93 EVA ss3842879922 Apr 25, 2020 (154)
94 HGDP ss3847721375 Apr 25, 2020 (154)
95 SGDP_PRJ ss3856798897 Apr 25, 2020 (154)
96 KRGDB ss3902789275 Apr 25, 2020 (154)
97 KOGIC ss3952246197 Apr 25, 2020 (154)
98 EVA ss3985016145 Apr 27, 2021 (155)
99 EVA ss4017101566 Apr 27, 2021 (155)
100 TOPMED ss4580836958 Apr 27, 2021 (155)
101 TOMMO_GENOMICS ss5161213873 Apr 27, 2021 (155)
102 1000G_HIGH_COVERAGE ss5255745334 Oct 12, 2022 (156)
103 EVA ss5314887617 Oct 12, 2022 (156)
104 EVA ss5342753078 Oct 12, 2022 (156)
105 HUGCELL_USP ss5454921685 Oct 12, 2022 (156)
106 1000G_HIGH_COVERAGE ss5535041924 Oct 12, 2022 (156)
107 SANFORD_IMAGENETICS ss5624528913 Oct 12, 2022 (156)
108 SANFORD_IMAGENETICS ss5633030730 Oct 12, 2022 (156)
109 TOMMO_GENOMICS ss5693978904 Oct 12, 2022 (156)
110 YY_MCH ss5804173107 Oct 12, 2022 (156)
111 EVA ss5826372128 Oct 12, 2022 (156)
112 EVA ss5847224657 Oct 12, 2022 (156)
113 EVA ss5847978348 Oct 12, 2022 (156)
114 EVA ss5853803537 Oct 12, 2022 (156)
115 EVA ss5870680600 Oct 12, 2022 (156)
116 EVA ss5961371556 Oct 12, 2022 (156)
117 EVA ss5979668682 Oct 12, 2022 (156)
118 1000Genomes NC_000003.11 - 119272391 Oct 12, 2018 (152)
119 1000Genomes_30x NC_000003.12 - 119553544 Oct 12, 2022 (156)
120 The Avon Longitudinal Study of Parents and Children NC_000003.11 - 119272391 Oct 12, 2018 (152)
121 Genetic variation in the Estonian population NC_000003.11 - 119272391 Oct 12, 2018 (152)
122 The Danish reference pan genome NC_000003.11 - 119272391 Apr 25, 2020 (154)
123 gnomAD - Genomes NC_000003.12 - 119553544 Apr 27, 2021 (155)
124 Genome of the Netherlands Release 5 NC_000003.11 - 119272391 Apr 25, 2020 (154)
125 HGDP-CEPH-db Supplement 1 NC_000003.10 - 120755081 Apr 25, 2020 (154)
126 HapMap NC_000003.12 - 119553544 Apr 25, 2020 (154)
127 KOREAN population from KRGDB NC_000003.11 - 119272391 Apr 25, 2020 (154)
128 Korean Genome Project NC_000003.12 - 119553544 Apr 25, 2020 (154)
129 Northern Sweden NC_000003.11 - 119272391 Jul 13, 2019 (153)
130 Ancient Sardinia genome-wide 1240k capture data generation and analysis NC_000003.11 - 119272391 Apr 27, 2021 (155)
131 Qatari NC_000003.11 - 119272391 Apr 25, 2020 (154)
132 SGDP_PRJ NC_000003.11 - 119272391 Apr 25, 2020 (154)
133 Siberian NC_000003.11 - 119272391 Apr 25, 2020 (154)
134 8.3KJPN NC_000003.11 - 119272391 Apr 27, 2021 (155)
135 14KJPN NC_000003.12 - 119553544 Oct 12, 2022 (156)
136 TopMed NC_000003.12 - 119553544 Apr 27, 2021 (155)
137 UK 10K study - Twins NC_000003.11 - 119272391 Oct 12, 2018 (152)
138 A Vietnamese Genetic Variation Database NC_000003.11 - 119272391 Jul 13, 2019 (153)
139 ALFA NC_000003.12 - 119553544 Apr 27, 2021 (155)
Help

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)
rs35718411 May 23, 2006 (127)
rs60066090 May 25, 2008 (130)
Added to this RefSNP Cluster:
Submission IDs Observation SPDI Canonical SPDI Source RSIDs
ss81246551, ss3639221777, ss3639911356, ss3643958073 NC_000003.9:120755080:G:A NC_000003.12:119553543:G:A (self)
399267, ss92255219, ss110813673, ss112405307, ss117246672, ss162541316, ss164094882, ss167104319, ss203082061, ss206191707, ss253433902, ss277317527, ss292897647, ss484443676, ss1588557906, ss1712606432, ss2094932518, ss3643392397, ss3847721375 NC_000003.10:120755080:G:A NC_000003.12:119553543:G:A (self)
17081602, 9514444, 6727310, 6314381, 4180424, 9966669, 3565228, 242072, 4344749, 8815877, 2327279, 19183180, 9514444, 2073952, ss220385479, ss232001245, ss239378998, ss484084818, ss536275038, ss556895525, ss650607157, ss780520576, ss782487346, ss832881381, ss833472211, ss836011965, ss979076248, ss1070771709, ss1305830102, ss1429561779, ss1580149442, ss1608043283, ss1651037316, ss1799922422, ss1922302819, ss1969504309, ss2021719030, ss2095137417, ss2149810925, ss2625361503, ss2634002248, ss2705214198, ss2798196625, ss2993062496, ss3345228021, ss3628757345, ss3631945705, ss3638437055, ss3642277553, ss3652756488, ss3660989062, ss3730280363, ss3760590073, ss3784441138, ss3789938963, ss3794813383, ss3828034577, ss3837449685, ss3856798897, ss3902789275, ss3985016145, ss4017101566, ss5161213873, ss5314887617, ss5342753078, ss5624528913, ss5633030730, ss5826372128, ss5847224657, ss5847978348, ss5961371556, ss5979668682 NC_000003.11:119272390:G:A NC_000003.12:119553543:G:A (self)
22567859, 121453300, 2444232, 8624198, 27816008, 418214513, 863281633, ss2255192057, ss3024626252, ss3710130946, ss3803726824, ss3842879922, ss3952246197, ss4580836958, ss5255745334, ss5454921685, ss5535041924, ss5693978904, ss5804173107, ss5853803537, ss5870680600 NC_000003.12:119553543:G:A NC_000003.12:119553543:G:A (self)
ss10082468, ss11594310 NT_005612.13:25671544:G:A NC_000003.12:119553543:G:A (self)
ss14168782, ss19507901 NT_005612.14:25767536:G:A NC_000003.12:119553543:G:A (self)
ss3166385, ss3802999, ss4132867, ss24144239, ss44433287, ss67235042, ss67631066, ss68199494, ss68873349, ss70713386, ss71280996, ss75631811, ss84000405, ss103977787, ss139123795, ss153886511, ss156103869, ss159369552, ss173188153 NT_005612.16:25767536:G:A NC_000003.12:119553543:G:A (self)
Help

Publications tab displays PubMed articles citing the variation as a listing of PMID, Title, Author, Year, Journal, ordered by Year, descending.

2 citations for rs2222631
PMID Title Author Year Journal
25862617 Genome-wide search followed by replication reveals genetic interaction of CD80 and ALOX5AP associated with systemic lupus erythematosus in Asian populations. Zhang Y et al. 2016 Annals of the rheumatic diseases
27108704 Genetic polymorphisms of cell adhesion molecules in Behcet's disease in a Chinese Han population. Zheng M et al. 2016 Scientific reports
Help

The Flanks tab provides retrieving flanking sequences of a SNP on all molecules that have placements.

Genome context:
Select flank length:

Genomic regions, transcripts, and products
Top▲ 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.

Software version is: 2.0.1.post761+d5e8e07