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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.

rs25680

Current Build 156

Released September 21, 2022

Organism
Homo sapiens
Position
chr12:6445462 (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=0.214121 (78683/367470, ALFA)
A=0.185912 (49209/264690, TOPMED)
A=0.190581 (47909/251384, GnomAD_exome) (+ 28 more)
A=0.192152 (26914/140066, GnomAD)
A=0.197829 (24005/121342, ExAC)
A=0.14582 (11476/78700, PAGE_STUDY)
A=0.02743 (775/28258, 14KJPN)
A=0.02804 (470/16760, 8.3KJPN)
A=0.21175 (2754/13006, GO-ESP)
A=0.1669 (1069/6404, 1000G_30x)
A=0.1675 (839/5008, 1000G)
A=0.2279 (1021/4480, Estonian)
A=0.2545 (981/3854, ALSPAC)
A=0.2352 (872/3708, TWINSUK)
A=0.0390 (114/2920, KOREAN)
A=0.1502 (313/2084, HGDP_Stanford)
A=0.1321 (250/1892, HapMap)
A=0.2121 (241/1136, Daghestan)
A=0.228 (228/998, GoNL)
A=0.057 (45/792, PRJEB37584)
A=0.120 (75/626, Chileans)
A=0.087 (53/612, Vietnamese)
A=0.240 (144/600, NorthernSweden)
A=0.174 (93/534, MGP)
A=0.191 (58/304, FINRISK)
A=0.125 (27/216, Qatari)
G=0.443 (54/122, SGDP_PRJ)
A=0.05 (4/84, Ancient Sardinia)
A=0.20 (8/40, GENOME_DK)
G=0.5 (4/8, Siberian)
A=0.5 (4/8, Siberian)
Clinical Significance
Reported in ClinVar
Gene : Consequence
CD27 : Missense Variant
CD27-AS1 : 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 383592 G=0.786349 A=0.213651, T=0.000000
European Sub 318972 G=0.775899 A=0.224101, T=0.000000
African Sub 17040 G=0.83462 A=0.16538, T=0.00000
African Others Sub 596 G=0.832 A=0.168, T=0.000
African American Sub 16444 G=0.83471 A=0.16529, T=0.00000
Asian Sub 6986 G=0.9502 A=0.0498, T=0.0000
East Asian Sub 4986 G=0.9557 A=0.0443, T=0.0000
Other Asian Sub 2000 G=0.9365 A=0.0635, T=0.0000
Latin American 1 Sub 1624 G=0.8257 A=0.1743, T=0.0000
Latin American 2 Sub 9396 G=0.8919 A=0.1081, T=0.0000
South Asian Sub 5238 G=0.7173 A=0.2827, T=0.0000
Other Sub 24336 G=0.81398 A=0.18602, T=0.00000


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
Allele Frequency Aggregator Total Global 367470 G=0.785879 A=0.214121, T=0.000000
Allele Frequency Aggregator European Sub 309094 G=0.775764 A=0.224236, T=0.000000
Allele Frequency Aggregator Other Sub 22914 G=0.81492 A=0.18508, T=0.00000
Allele Frequency Aggregator African Sub 12218 G=0.83598 A=0.16402, T=0.00000
Allele Frequency Aggregator Latin American 2 Sub 9396 G=0.8919 A=0.1081, T=0.0000
Allele Frequency Aggregator Asian Sub 6986 G=0.9502 A=0.0498, T=0.0000
Allele Frequency Aggregator South Asian Sub 5238 G=0.7173 A=0.2827, T=0.0000
Allele Frequency Aggregator Latin American 1 Sub 1624 G=0.8257 A=0.1743, T=0.0000
TopMed Global Study-wide 264690 G=0.814088 A=0.185912
gnomAD - Exomes Global Study-wide 251384 G=0.809419 A=0.190581
gnomAD - Exomes European Sub 135324 G=0.784162 A=0.215838
gnomAD - Exomes Asian Sub 49010 G=0.79784 A=0.20216
gnomAD - Exomes American Sub 34590 G=0.90622 A=0.09378
gnomAD - Exomes African Sub 16254 G=0.82497 A=0.17503
gnomAD - Exomes Ashkenazi Jewish Sub 10070 G=0.84777 A=0.15223
gnomAD - Exomes Other Sub 6136 G=0.8092 A=0.1908
gnomAD - Genomes Global Study-wide 140066 G=0.807848 A=0.192152
gnomAD - Genomes European Sub 75844 G=0.77918 A=0.22082
gnomAD - Genomes African Sub 41974 G=0.83082 A=0.16918
gnomAD - Genomes American Sub 13650 G=0.85641 A=0.14359
gnomAD - Genomes Ashkenazi Jewish Sub 3322 G=0.8477 A=0.1523
gnomAD - Genomes East Asian Sub 3130 G=0.9371 A=0.0629
gnomAD - Genomes Other Sub 2146 G=0.8127 A=0.1873
ExAC Global Study-wide 121342 G=0.802171 A=0.197829
ExAC Europe Sub 73320 G=0.78482 A=0.21518
ExAC Asian Sub 25150 G=0.79074 A=0.20926
ExAC American Sub 11566 G=0.91276 A=0.08724
ExAC African Sub 10398 G=0.82795 A=0.17205
ExAC Other Sub 908 G=0.816 A=0.184
The PAGE Study Global Study-wide 78700 G=0.85418 A=0.14582
The PAGE Study AfricanAmerican Sub 32514 G=0.82423 A=0.17577
The PAGE Study Mexican Sub 10810 G=0.89195 A=0.10805
The PAGE Study Asian Sub 8318 G=0.9665 A=0.0335
The PAGE Study PuertoRican Sub 7918 G=0.8306 A=0.1694
The PAGE Study NativeHawaiian Sub 4534 G=0.8974 A=0.1026
The PAGE Study Cuban Sub 4230 G=0.8076 A=0.1924
The PAGE Study Dominican Sub 3828 G=0.8132 A=0.1868
The PAGE Study CentralAmerican Sub 2450 G=0.8935 A=0.1065
The PAGE Study SouthAmerican Sub 1982 G=0.8885 A=0.1115
The PAGE Study NativeAmerican Sub 1260 G=0.8167 A=0.1833
The PAGE Study SouthAsian Sub 856 G=0.689 A=0.311
14KJPN JAPANESE Study-wide 28258 G=0.97257 A=0.02743
8.3KJPN JAPANESE Study-wide 16760 G=0.97196 A=0.02804
GO Exome Sequencing Project Global Study-wide 13006 G=0.78825 A=0.21175
GO Exome Sequencing Project European American Sub 8600 G=0.7701 A=0.2299
GO Exome Sequencing Project African American Sub 4406 G=0.8236 A=0.1764
1000Genomes_30x Global Study-wide 6404 G=0.8331 A=0.1669
1000Genomes_30x African Sub 1786 G=0.8494 A=0.1506
1000Genomes_30x Europe Sub 1266 G=0.8025 A=0.1975
1000Genomes_30x South Asian Sub 1202 G=0.6938 A=0.3062
1000Genomes_30x East Asian Sub 1170 G=0.9521 A=0.0479
1000Genomes_30x American Sub 980 G=0.871 A=0.129
1000Genomes Global Study-wide 5008 G=0.8325 A=0.1675
1000Genomes African Sub 1322 G=0.8495 A=0.1505
1000Genomes East Asian Sub 1008 G=0.9464 A=0.0536
1000Genomes Europe Sub 1006 G=0.8032 A=0.1968
1000Genomes South Asian Sub 978 G=0.691 A=0.309
1000Genomes American Sub 694 G=0.876 A=0.124
Genetic variation in the Estonian population Estonian Study-wide 4480 G=0.7721 A=0.2279
The Avon Longitudinal Study of Parents and Children PARENT AND CHILD COHORT Study-wide 3854 G=0.7455 A=0.2545
UK 10K study - Twins TWIN COHORT Study-wide 3708 G=0.7648 A=0.2352
KOREAN population from KRGDB KOREAN Study-wide 2920 G=0.9610 A=0.0390
HGDP-CEPH-db Supplement 1 Global Study-wide 2084 G=0.8498 A=0.1502
HGDP-CEPH-db Supplement 1 Est_Asia Sub 470 G=0.938 A=0.062
HGDP-CEPH-db Supplement 1 Central_South_Asia Sub 414 G=0.758 A=0.242
HGDP-CEPH-db Supplement 1 Middle_Est Sub 350 G=0.817 A=0.183
HGDP-CEPH-db Supplement 1 Europe Sub 320 G=0.800 A=0.200
HGDP-CEPH-db Supplement 1 Africa Sub 242 G=0.793 A=0.207
HGDP-CEPH-db Supplement 1 America Sub 216 G=0.991 A=0.009
HGDP-CEPH-db Supplement 1 Oceania Sub 72 G=0.94 A=0.06
HapMap Global Study-wide 1892 G=0.8679 A=0.1321
HapMap American Sub 770 G=0.813 A=0.187
HapMap African Sub 692 G=0.908 A=0.092
HapMap Asian Sub 254 G=0.965 A=0.035
HapMap Europe Sub 176 G=0.812 A=0.188
Genome-wide autozygosity in Daghestan Global Study-wide 1136 G=0.7879 A=0.2121
Genome-wide autozygosity in Daghestan Daghestan Sub 628 G=0.779 A=0.221
Genome-wide autozygosity in Daghestan Near_East Sub 144 G=0.826 A=0.174
Genome-wide autozygosity in Daghestan Central Asia Sub 122 G=0.885 A=0.115
Genome-wide autozygosity in Daghestan Europe Sub 108 G=0.759 A=0.241
Genome-wide autozygosity in Daghestan South Asian Sub 98 G=0.69 A=0.31
Genome-wide autozygosity in Daghestan Caucasus Sub 36 G=0.81 A=0.19
Genome of the Netherlands Release 5 Genome of the Netherlands Study-wide 998 G=0.772 A=0.228
CNV burdens in cranial meningiomas Global Study-wide 792 G=0.943 A=0.057
CNV burdens in cranial meningiomas CRM Sub 792 G=0.943 A=0.057
Chileans Chilean Study-wide 626 G=0.880 A=0.120
A Vietnamese Genetic Variation Database Global Study-wide 612 G=0.913 A=0.087
Northern Sweden ACPOP Study-wide 600 G=0.760 A=0.240
Medical Genome Project healthy controls from Spanish population Spanish controls Study-wide 534 G=0.826 A=0.174
FINRISK Finnish from FINRISK project Study-wide 304 G=0.809 A=0.191
Qatari Global Study-wide 216 G=0.875 A=0.125
SGDP_PRJ Global Study-wide 122 G=0.443 A=0.557
Ancient Sardinia genome-wide 1240k capture data generation and analysis Global Study-wide 84 G=0.95 A=0.05
The Danish reference pan genome Danish Study-wide 40 G=0.80 A=0.20
Siberian Global Study-wide 8 G=0.5 A=0.5
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 12 NC_000012.12:g.6445462G>A
GRCh38.p14 chr 12 NC_000012.12:g.6445462G>T
GRCh37.p13 chr 12 NC_000012.11:g.6554628G>A
GRCh37.p13 chr 12 NC_000012.11:g.6554628G>T
CD27 RefSeqGene (LRG_357) NG_031995.1:g.5578G>A
CD27 RefSeqGene (LRG_357) NG_031995.1:g.5578G>T
Gene: CD27, CD27 molecule (plus strand)
Molecule type Change Amino acid[Codon] SO Term
CD27 transcript variant 2 NM_001242.5:c.175G>A A [GCT] > T [ACT] Coding Sequence Variant
CD27 antigen isoform b precursor NP_001233.2:p.Ala59Thr A (Ala) > T (Thr) Missense Variant
CD27 transcript variant 2 NM_001242.5:c.175G>T A [GCT] > S [TCT] Coding Sequence Variant
CD27 antigen isoform b precursor NP_001233.2:p.Ala59Ser A (Ala) > S (Ser) Missense Variant
CD27 transcript variant X3 XM_011521042.4:c. N/A Genic Upstream Transcript Variant
CD27 transcript variant X2 XM_047429900.1:c. N/A Genic Upstream Transcript Variant
CD27 transcript variant X1 XM_017020234.2:c.175G>A A [GCT] > T [ACT] Coding Sequence Variant
CD27 antigen isoform X1 XP_016875723.1:p.Ala59Thr A (Ala) > T (Thr) Missense Variant
CD27 transcript variant X1 XM_017020234.2:c.175G>T A [GCT] > S [TCT] Coding Sequence Variant
CD27 antigen isoform X1 XP_016875723.1:p.Ala59Ser A (Ala) > S (Ser) Missense Variant
Gene: CD27-AS1, CD27 antisense RNA 1 (minus strand)
Molecule type Change Amino acid[Codon] SO Term
CD27-AS1 transcript NR_015382.2:n. 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.

Allele: A (allele ID: 1157018 )
ClinVar Accession Disease Names Clinical Significance
RCV001518348.4 Lymphoproliferative syndrome 2 Benign
RCV001685395.1 not provided Benign
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 T
GRCh38.p14 chr 12 NC_000012.12:g.6445462= NC_000012.12:g.6445462G>A NC_000012.12:g.6445462G>T
GRCh37.p13 chr 12 NC_000012.11:g.6554628= NC_000012.11:g.6554628G>A NC_000012.11:g.6554628G>T
CD27 RefSeqGene (LRG_357) NG_031995.1:g.5578= NG_031995.1:g.5578G>A NG_031995.1:g.5578G>T
CD27 transcript variant 2 NM_001242.5:c.175= NM_001242.5:c.175G>A NM_001242.5:c.175G>T
CD27 transcript NM_001242.4:c.175= NM_001242.4:c.175G>A NM_001242.4:c.175G>T
CD27 transcript variant X1 XM_017020234.2:c.175= XM_017020234.2:c.175G>A XM_017020234.2:c.175G>T
CD27 transcript variant X3 XM_017020234.1:c.175= XM_017020234.1:c.175G>A XM_017020234.1:c.175G>T
CD27 antigen isoform b precursor NP_001233.2:p.Ala59= NP_001233.2:p.Ala59Thr NP_001233.2:p.Ala59Ser
CD27 antigen isoform X1 XP_016875723.1:p.Ala59= XP_016875723.1:p.Ala59Thr XP_016875723.1:p.Ala59Ser
CD27 antigen precursor NP_001233.1:p.Ala59= NP_001233.1:p.Ala59Thr NP_001233.1:p.Ala59Ser
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#.

171 SubSNP, 30 Frequency, 2 ClinVar submissions
No Submitter Submission ID Date (Build)
1 WIAF-CSNP ss28404 Mar 14, 2000 (72)
2 TSC-CSHL ss131069 Oct 05, 2000 (123)
3 SC_JCM ss3550182 Sep 28, 2001 (123)
4 EGP_SNPS ss16340789 Feb 27, 2004 (123)
5 PERLEGEN ss24697307 Sep 20, 2004 (123)
6 APPLERA_GI ss48422364 Mar 14, 2006 (126)
7 AFFY ss66117376 Dec 01, 2006 (127)
8 ILLUMINA ss66582522 Dec 01, 2006 (127)
9 EGP_SNPS ss66857169 Dec 01, 2006 (127)
10 ILLUMINA ss67261092 Dec 01, 2006 (127)
11 ILLUMINA ss67660237 Dec 01, 2006 (127)
12 PERLEGEN ss69099792 May 17, 2007 (127)
13 ILLUMINA ss70739475 May 24, 2008 (130)
14 ILLUMINA ss71310185 May 17, 2007 (127)
15 AFFY ss74808648 Aug 16, 2007 (128)
16 ILLUMINA ss74938524 Dec 06, 2007 (129)
17 AFFY ss76106032 Dec 06, 2007 (129)
18 ILLUMINA ss79139350 Dec 14, 2007 (130)
19 KRIBB_YJKIM ss83352345 Dec 14, 2007 (130)
20 CANCER-GENOME ss86343644 Mar 23, 2008 (129)
21 CNG ss98337750 Feb 04, 2009 (130)
22 1000GENOMES ss111427559 Jan 25, 2009 (130)
23 ILLUMINA ss122060500 Dec 01, 2009 (131)
24 ILLUMINA ss153920143 Dec 01, 2009 (131)
25 ILLUMINA ss159397620 Dec 01, 2009 (131)
26 SEATTLESEQ ss159725469 Dec 01, 2009 (131)
27 ILLUMINA ss160559528 Dec 01, 2009 (131)
28 ILLUMINA ss171304068 Jul 04, 2010 (132)
29 AFFY ss172525617 Jul 04, 2010 (132)
30 ILLUMINA ss173392758 Jul 04, 2010 (132)
31 BUSHMAN ss203500627 Jul 04, 2010 (132)
32 BCM-HGSC-SUB ss208198294 Jul 04, 2010 (132)
33 1000GENOMES ss225588722 Jul 14, 2010 (132)
34 1000GENOMES ss235809810 Jul 15, 2010 (132)
35 NHLBI-ESP ss342347822 May 09, 2011 (134)
36 GMI ss475778358 May 04, 2012 (137)
37 ILLUMINA ss480605136 May 04, 2012 (137)
38 ILLUMINA ss480619502 May 04, 2012 (137)
39 ILLUMINA ss481452334 Sep 08, 2015 (146)
40 ILLUMINA ss485097703 May 04, 2012 (137)
41 1000GENOMES ss491035197 May 04, 2012 (137)
42 EXOME_CHIP ss491463101 May 04, 2012 (137)
43 CLINSEQ_SNP ss491658838 May 04, 2012 (137)
44 ILLUMINA ss537104352 Sep 08, 2015 (146)
45 TISHKOFF ss562972882 Apr 25, 2013 (138)
46 SSMP ss658498695 Apr 25, 2013 (138)
47 ILLUMINA ss778872867 Sep 08, 2015 (146)
48 ILLUMINA ss780907182 Sep 08, 2015 (146)
49 ILLUMINA ss782995146 Sep 08, 2015 (146)
50 ILLUMINA ss783594601 Sep 08, 2015 (146)
51 ILLUMINA ss783955791 Sep 08, 2015 (146)
52 ILLUMINA ss825469868 Apr 01, 2015 (144)
53 ILLUMINA ss832252062 Sep 08, 2015 (146)
54 ILLUMINA ss832909343 Jul 13, 2019 (153)
55 ILLUMINA ss834333794 Sep 08, 2015 (146)
56 JMKIDD_LAB ss974482317 Aug 21, 2014 (142)
57 EVA-GONL ss989201069 Aug 21, 2014 (142)
58 JMKIDD_LAB ss1067530880 Aug 21, 2014 (142)
59 JMKIDD_LAB ss1078222120 Aug 21, 2014 (142)
60 1000GENOMES ss1343865563 Aug 21, 2014 (142)
61 HAMMER_LAB ss1397624761 Sep 08, 2015 (146)
62 DDI ss1426831363 Apr 01, 2015 (144)
63 EVA_GENOME_DK ss1576092360 Apr 01, 2015 (144)
64 EVA_FINRISK ss1584079832 Apr 01, 2015 (144)
65 EVA_DECODE ss1598872870 Apr 01, 2015 (144)
66 EVA_UK10K_ALSPAC ss1627949937 Apr 01, 2015 (144)
67 EVA_UK10K_TWINSUK ss1670943970 Apr 01, 2015 (144)
68 EVA_EXAC ss1690755348 Apr 01, 2015 (144)
69 EVA_MGP ss1711317875 Apr 01, 2015 (144)
70 EVA_SVP ss1713304409 Apr 01, 2015 (144)
71 ILLUMINA ss1752077299 Sep 08, 2015 (146)
72 ILLUMINA ss1752077300 Sep 08, 2015 (146)
73 HAMMER_LAB ss1807102890 Sep 08, 2015 (146)
74 ILLUMINA ss1917869858 Feb 12, 2016 (147)
75 WEILL_CORNELL_DGM ss1932563014 Feb 12, 2016 (147)
76 ILLUMINA ss1946329923 Feb 12, 2016 (147)
77 ILLUMINA ss1959409535 Feb 12, 2016 (147)
78 AMU ss1966651794 Feb 12, 2016 (147)
79 JJLAB ss2027028306 Sep 14, 2016 (149)
80 ILLUMINA ss2095030464 Dec 20, 2016 (150)
81 USC_VALOUEV ss2155348253 Dec 20, 2016 (150)
82 HUMAN_LONGEVITY ss2187538291 Dec 20, 2016 (150)
83 SYSTEMSBIOZJU ss2627991336 Nov 08, 2017 (151)
84 ILLUMINA ss2632920724 Nov 08, 2017 (151)
85 GRF ss2699669266 Nov 08, 2017 (151)
86 GNOMAD ss2739577868 Nov 08, 2017 (151)
87 GNOMAD ss2748796908 Nov 08, 2017 (151)
88 GNOMAD ss2906947765 Nov 08, 2017 (151)
89 AFFY ss2984966123 Nov 08, 2017 (151)
90 SWEGEN ss3009142651 Nov 08, 2017 (151)
91 ILLUMINA ss3021402433 Nov 08, 2017 (151)
92 BIOINF_KMB_FNS_UNIBA ss3027318098 Nov 08, 2017 (151)
93 CSHL ss3349903990 Nov 08, 2017 (151)
94 ILLUMINA ss3626807795 Oct 12, 2018 (152)
95 ILLUMINA ss3626807796 Oct 12, 2018 (152)
96 ILLUMINA ss3630932610 Oct 12, 2018 (152)
97 ILLUMINA ss3633008981 Oct 12, 2018 (152)
98 ILLUMINA ss3633709419 Oct 12, 2018 (152)
99 ILLUMINA ss3634488762 Oct 12, 2018 (152)
100 ILLUMINA ss3634488763 Oct 12, 2018 (152)
101 ILLUMINA ss3635400489 Oct 12, 2018 (152)
102 ILLUMINA ss3636173062 Oct 12, 2018 (152)
103 ILLUMINA ss3637151435 Oct 12, 2018 (152)
104 ILLUMINA ss3637944951 Oct 12, 2018 (152)
105 ILLUMINA ss3638986529 Oct 12, 2018 (152)
106 ILLUMINA ss3639494919 Oct 12, 2018 (152)
107 ILLUMINA ss3640196096 Oct 12, 2018 (152)
108 ILLUMINA ss3640196097 Oct 12, 2018 (152)
109 ILLUMINA ss3642940125 Oct 12, 2018 (152)
110 ILLUMINA ss3644582862 Oct 12, 2018 (152)
111 OMUKHERJEE_ADBS ss3646436562 Oct 12, 2018 (152)
112 ILLUMINA ss3651774717 Oct 12, 2018 (152)
113 ILLUMINA ss3651774718 Oct 12, 2018 (152)
114 ILLUMINA ss3653738410 Oct 12, 2018 (152)
115 EGCUT_WGS ss3676474267 Jul 13, 2019 (153)
116 EVA_DECODE ss3693042973 Jul 13, 2019 (153)
117 ILLUMINA ss3725300064 Jul 13, 2019 (153)
118 ACPOP ss3738738188 Jul 13, 2019 (153)
119 ILLUMINA ss3744391131 Jul 13, 2019 (153)
120 ILLUMINA ss3744789486 Jul 13, 2019 (153)
121 ILLUMINA ss3744789487 Jul 13, 2019 (153)
122 EVA ss3750098691 Jul 13, 2019 (153)
123 PAGE_CC ss3771671862 Jul 13, 2019 (153)
124 ILLUMINA ss3772289076 Jul 13, 2019 (153)
125 ILLUMINA ss3772289077 Jul 13, 2019 (153)
126 PACBIO ss3787130466 Jul 13, 2019 (153)
127 PACBIO ss3792246240 Jul 13, 2019 (153)
128 PACBIO ss3797129052 Jul 13, 2019 (153)
129 KHV_HUMAN_GENOMES ss3815413702 Jul 13, 2019 (153)
130 EVA ss3824697811 Apr 26, 2020 (154)
131 EVA ss3825815217 Apr 26, 2020 (154)
132 EVA ss3832955677 Apr 26, 2020 (154)
133 EVA ss3840041161 Apr 26, 2020 (154)
134 EVA ss3845523756 Apr 26, 2020 (154)
135 HGDP ss3847440368 Apr 26, 2020 (154)
136 SGDP_PRJ ss3877611879 Apr 26, 2020 (154)
137 KRGDB ss3926111884 Apr 26, 2020 (154)
138 FSA-LAB ss3984019689 Apr 26, 2021 (155)
139 EVA ss3984661681 Apr 26, 2021 (155)
140 EVA ss3985573533 Apr 26, 2021 (155)
141 EVA ss3986057895 Apr 26, 2021 (155)
142 EVA ss3986556190 Apr 26, 2021 (155)
143 EVA ss4017572235 Apr 26, 2021 (155)
144 TOPMED ss4907540532 Apr 26, 2021 (155)
145 TOMMO_GENOMICS ss5204898855 Apr 26, 2021 (155)
146 EVA ss5236902203 Apr 26, 2021 (155)
147 EVA ss5237506303 Apr 26, 2021 (155)
148 EVA ss5237659271 Oct 16, 2022 (156)
149 1000G_HIGH_COVERAGE ss5289682837 Oct 16, 2022 (156)
150 TRAN_CS_UWATERLOO ss5314434413 Oct 16, 2022 (156)
151 EVA ss5315597771 Oct 16, 2022 (156)
152 EVA ss5403705385 Oct 16, 2022 (156)
153 HUGCELL_USP ss5484589165 Oct 16, 2022 (156)
154 1000G_HIGH_COVERAGE ss5586548284 Oct 16, 2022 (156)
155 EVA ss5623956127 Oct 16, 2022 (156)
156 EVA ss5624028441 Oct 16, 2022 (156)
157 SANFORD_IMAGENETICS ss5624293741 Oct 16, 2022 (156)
158 SANFORD_IMAGENETICS ss5652519399 Oct 16, 2022 (156)
159 TOMMO_GENOMICS ss5753641754 Oct 16, 2022 (156)
160 EVA ss5799862722 Oct 16, 2022 (156)
161 EVA ss5800064470 Oct 16, 2022 (156)
162 EVA ss5800173997 Oct 16, 2022 (156)
163 YY_MCH ss5812973272 Oct 16, 2022 (156)
164 EVA ss5837539467 Oct 16, 2022 (156)
165 EVA ss5847403719 Oct 16, 2022 (156)
166 EVA ss5847658513 Oct 16, 2022 (156)
167 EVA ss5848343912 Oct 16, 2022 (156)
168 EVA ss5850245552 Oct 16, 2022 (156)
169 EVA ss5903153615 Oct 16, 2022 (156)
170 EVA ss5943869199 Oct 16, 2022 (156)
171 EVA ss5979381295 Oct 16, 2022 (156)
172 1000Genomes NC_000012.11 - 6554628 Oct 12, 2018 (152)
173 1000Genomes_30x NC_000012.12 - 6445462 Oct 16, 2022 (156)
174 The Avon Longitudinal Study of Parents and Children NC_000012.11 - 6554628 Oct 12, 2018 (152)
175 Chileans NC_000012.11 - 6554628 Apr 26, 2020 (154)
176 Genome-wide autozygosity in Daghestan NC_000012.10 - 6424889 Apr 26, 2020 (154)
177 Genetic variation in the Estonian population NC_000012.11 - 6554628 Oct 12, 2018 (152)
178 ExAC NC_000012.11 - 6554628 Oct 12, 2018 (152)
179 FINRISK NC_000012.11 - 6554628 Apr 26, 2020 (154)
180 The Danish reference pan genome NC_000012.11 - 6554628 Apr 26, 2020 (154)
181 gnomAD - Genomes NC_000012.12 - 6445462 Apr 26, 2021 (155)
182 gnomAD - Exomes NC_000012.11 - 6554628 Jul 13, 2019 (153)
183 GO Exome Sequencing Project NC_000012.11 - 6554628 Oct 12, 2018 (152)
184 Genome of the Netherlands Release 5 NC_000012.11 - 6554628 Apr 26, 2020 (154)
185 HGDP-CEPH-db Supplement 1 NC_000012.10 - 6424889 Apr 26, 2020 (154)
186 HapMap NC_000012.12 - 6445462 Apr 26, 2020 (154)
187 KOREAN population from KRGDB NC_000012.11 - 6554628 Apr 26, 2020 (154)
188 Medical Genome Project healthy controls from Spanish population NC_000012.11 - 6554628 Apr 26, 2020 (154)
189 Northern Sweden NC_000012.11 - 6554628 Jul 13, 2019 (153)
190 The PAGE Study NC_000012.12 - 6445462 Jul 13, 2019 (153)
191 Ancient Sardinia genome-wide 1240k capture data generation and analysis NC_000012.11 - 6554628 Apr 26, 2021 (155)
192 CNV burdens in cranial meningiomas NC_000012.11 - 6554628 Apr 26, 2021 (155)
193 Qatari NC_000012.11 - 6554628 Apr 26, 2020 (154)
194 SGDP_PRJ NC_000012.11 - 6554628 Apr 26, 2020 (154)
195 Siberian NC_000012.11 - 6554628 Apr 26, 2020 (154)
196 8.3KJPN NC_000012.11 - 6554628 Apr 26, 2021 (155)
197 14KJPN NC_000012.12 - 6445462 Oct 16, 2022 (156)
198 TopMed NC_000012.12 - 6445462 Apr 26, 2021 (155)
199 UK 10K study - Twins NC_000012.11 - 6554628 Oct 12, 2018 (152)
200 A Vietnamese Genetic Variation Database NC_000012.11 - 6554628 Jul 13, 2019 (153)
201 ALFA NC_000012.12 - 6445462 Apr 26, 2021 (155)
202 ClinVar RCV001518348.4 Oct 16, 2022 (156)
203 ClinVar RCV001685395.1 Oct 16, 2022 (156)
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)
rs758738 Oct 08, 2004 (123)
rs17787459 Oct 08, 2004 (123)
rs52809900 Sep 21, 2007 (128)
rs58117019 May 24, 2008 (130)
Added to this RefSNP Cluster:
Submission IDs Observation SPDI Canonical SPDI Source RSIDs
ss3638986529, ss3639494919 NC_000012.9:6424888:G:A NC_000012.12:6445461:G:A (self)
95778, 118260, ss66117376, ss76106032, ss111427559, ss172525617, ss203500627, ss208198294, ss475778358, ss480605136, ss491658838, ss825469868, ss1397624761, ss1598872870, ss1713304409, ss3642940125, ss3847440368 NC_000012.10:6424888:G:A NC_000012.12:6445461:G:A (self)
56479056, 31366491, 92013, 22212515, 1039869, 76293, 2828576, 8802250, 1155309, 13991842, 33289278, 433635, 12023053, 799460, 211172, 14604944, 29628859, 7864607, 62868162, 31366491, 6957795, ss225588722, ss235809810, ss342347822, ss480619502, ss481452334, ss485097703, ss491035197, ss491463101, ss537104352, ss562972882, ss658498695, ss778872867, ss780907182, ss782995146, ss783594601, ss783955791, ss832252062, ss832909343, ss834333794, ss974482317, ss989201069, ss1067530880, ss1078222120, ss1343865563, ss1426831363, ss1576092360, ss1584079832, ss1627949937, ss1670943970, ss1690755348, ss1711317875, ss1752077299, ss1752077300, ss1807102890, ss1917869858, ss1932563014, ss1946329923, ss1959409535, ss1966651794, ss2027028306, ss2095030464, ss2155348253, ss2627991336, ss2632920724, ss2699669266, ss2739577868, ss2748796908, ss2906947765, ss2984966123, ss3009142651, ss3021402433, ss3349903990, ss3626807795, ss3626807796, ss3630932610, ss3633008981, ss3633709419, ss3634488762, ss3634488763, ss3635400489, ss3636173062, ss3637151435, ss3637944951, ss3640196096, ss3640196097, ss3644582862, ss3646436562, ss3651774717, ss3651774718, ss3653738410, ss3676474267, ss3738738188, ss3744391131, ss3744789486, ss3744789487, ss3750098691, ss3772289076, ss3772289077, ss3787130466, ss3792246240, ss3797129052, ss3824697811, ss3825815217, ss3832955677, ss3840041161, ss3877611879, ss3926111884, ss3984019689, ss3984661681, ss3985573533, ss3986057895, ss3986556190, ss4017572235, ss5204898855, ss5237506303, ss5315597771, ss5403705385, ss5623956127, ss5624028441, ss5624293741, ss5652519399, ss5799862722, ss5800064470, ss5800173997, ss5837539467, ss5847403719, ss5847658513, ss5848343912, ss5943869199, ss5979381295 NC_000012.11:6554627:G:A NC_000012.12:6445461:G:A (self)
RCV001518348.4, RCV001685395.1, 74074219, 398277654, 749089, 893331, 87478858, 123086189, 8263341780, ss2187538291, ss3027318098, ss3693042973, ss3725300064, ss3771671862, ss3815413702, ss3845523756, ss4907540532, ss5236902203, ss5237659271, ss5289682837, ss5314434413, ss5484589165, ss5586548284, ss5753641754, ss5812973272, ss5850245552, ss5903153615 NC_000012.12:6445461:G:A NC_000012.12:6445461:G:A (self)
ss28404, ss131069, ss3550182, ss16340789, ss24697307, ss48422364, ss66582522, ss66857169, ss67261092, ss67660237, ss69099792, ss70739475, ss71310185, ss74808648, ss74938524, ss79139350, ss83352345, ss86343644, ss98337750, ss122060500, ss153920143, ss159397620, ss159725469, ss160559528, ss171304068, ss173392758 NT_009759.16:6494627:G:A NC_000012.12:6445461:G:A (self)
8263341780 NC_000012.12:6445461:G:T NC_000012.12:6445461:G:T (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 rs25680
PMID Title Author Year Journal
15507493 Association of late-onset Alzheimer's disease with genetic variation in multiple members of the GAPD gene family. Li Y et al. 2004 Proceedings of the National Academy of Sciences of the United States of America
33872774 Why does SARS-CoV-2 hit in different ways? Host genetic factors can influence the acquisition or the course of COVID-19. Monticelli M et al. 2021 European journal of medical genetics
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