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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.

rs11609582

Current Build 156

Released September 21, 2022

Organism
Homo sapiens
Position
chr12:9090027 (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
A>C / A>T
Variation Type
SNV Single Nucleotide Variation
Frequency
T=0.163293 (43222/264690, TOPMED)
T=0.139477 (33416/239580, GnomAD_exome)
T=0.163704 (22892/139838, GnomAD) (+ 23 more)
T=0.141498 (17048/120482, ExAC)
T=0.15761 (7901/50130, ALFA)
T=0.03656 (1033/28258, 14KJPN)
T=0.03479 (583/16760, 8.3KJPN)
T=0.17128 (2053/11986, GO-ESP)
T=0.1468 (940/6404, 1000G_30x)
T=0.1474 (738/5008, 1000G)
T=0.1431 (641/4480, Estonian)
T=0.1445 (557/3854, ALSPAC)
T=0.1610 (597/3708, TWINSUK)
T=0.0404 (118/2922, KOREAN)
T=0.1527 (288/1886, HapMap)
T=0.0464 (85/1832, Korea1K)
T=0.159 (159/998, GoNL)
T=0.035 (28/790, PRJEB37584)
T=0.163 (98/600, NorthernSweden)
T=0.169 (90/534, MGP)
T=0.086 (26/304, FINRISK)
T=0.139 (30/216, Qatari)
T=0.037 (8/214, Vietnamese)
A=0.460 (57/124, SGDP_PRJ)
T=0.17 (7/40, GENOME_DK)
A=0.0 (0/2, Siberian)
Clinical Significance
Not Reported in ClinVar
Gene : Consequence
KLRG1 : Intron Variant
A2M : Intron Variant
Publications
1 citation
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 50130 A=0.84239 C=0.00000, T=0.15761
European Sub 38254 A=0.84287 C=0.00000, T=0.15713
African Sub 3386 A=0.8237 C=0.0000, T=0.1763
African Others Sub 116 A=0.784 C=0.000, T=0.216
African American Sub 3270 A=0.8251 C=0.0000, T=0.1749
Asian Sub 168 A=0.946 C=0.000, T=0.054
East Asian Sub 112 A=0.929 C=0.000, T=0.071
Other Asian Sub 56 A=0.98 C=0.00, T=0.02
Latin American 1 Sub 500 A=0.828 C=0.000, T=0.172
Latin American 2 Sub 628 A=0.912 C=0.000, T=0.088
South Asian Sub 98 A=0.88 C=0.00, T=0.12
Other Sub 7096 A=0.8406 C=0.0000, T=0.1594


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 A=0.836707 T=0.163293
gnomAD - Exomes Global Study-wide 239580 A=0.860523 T=0.139477
gnomAD - Exomes European Sub 131572 A=0.848965 T=0.151035
gnomAD - Exomes Asian Sub 45590 A=0.88497 T=0.11503
gnomAD - Exomes American Sub 31872 A=0.91871 T=0.08129
gnomAD - Exomes African Sub 15286 A=0.79799 T=0.20201
gnomAD - Exomes Ashkenazi Jewish Sub 9486 A=0.8143 T=0.1857
gnomAD - Exomes Other Sub 5774 A=0.8512 T=0.1488
gnomAD - Genomes Global Study-wide 139838 A=0.836296 T=0.163704
gnomAD - Genomes European Sub 75762 A=0.84812 T=0.15188
gnomAD - Genomes African Sub 41872 A=0.79442 T=0.20558
gnomAD - Genomes American Sub 13614 A=0.87329 T=0.12671
gnomAD - Genomes Ashkenazi Jewish Sub 3320 A=0.8039 T=0.1961
gnomAD - Genomes East Asian Sub 3126 A=0.9680 T=0.0320
gnomAD - Genomes Other Sub 2144 A=0.8596 T=0.1404
ExAC Global Study-wide 120482 A=0.858502 T=0.141498
ExAC Europe Sub 73228 A=0.84675 T=0.15325
ExAC Asian Sub 25002 A=0.88197 T=0.11803
ExAC American Sub 11564 A=0.93125 T=0.06875
ExAC African Sub 9790 A=0.8008 T=0.1992
ExAC Other Sub 898 A=0.855 T=0.145
Allele Frequency Aggregator Total Global 50130 A=0.84239 C=0.00000, T=0.15761
Allele Frequency Aggregator European Sub 38254 A=0.84287 C=0.00000, T=0.15713
Allele Frequency Aggregator Other Sub 7096 A=0.8406 C=0.0000, T=0.1594
Allele Frequency Aggregator African Sub 3386 A=0.8237 C=0.0000, T=0.1763
Allele Frequency Aggregator Latin American 2 Sub 628 A=0.912 C=0.000, T=0.088
Allele Frequency Aggregator Latin American 1 Sub 500 A=0.828 C=0.000, T=0.172
Allele Frequency Aggregator Asian Sub 168 A=0.946 C=0.000, T=0.054
Allele Frequency Aggregator South Asian Sub 98 A=0.88 C=0.00, T=0.12
14KJPN JAPANESE Study-wide 28258 A=0.96344 T=0.03656
8.3KJPN JAPANESE Study-wide 16760 A=0.96521 T=0.03479
GO Exome Sequencing Project Global Study-wide 11986 A=0.82872 T=0.17128
GO Exome Sequencing Project European American Sub 8220 A=0.8347 T=0.1653
GO Exome Sequencing Project African American Sub 3766 A=0.8157 T=0.1843
1000Genomes_30x Global Study-wide 6404 A=0.8532 T=0.1468
1000Genomes_30x African Sub 1786 A=0.7861 T=0.2139
1000Genomes_30x Europe Sub 1266 A=0.8262 T=0.1738
1000Genomes_30x South Asian Sub 1202 A=0.8403 T=0.1597
1000Genomes_30x East Asian Sub 1170 A=0.9564 T=0.0436
1000Genomes_30x American Sub 980 A=0.903 T=0.097
1000Genomes Global Study-wide 5008 A=0.8526 T=0.1474
1000Genomes African Sub 1322 A=0.7859 T=0.2141
1000Genomes East Asian Sub 1008 A=0.9544 T=0.0456
1000Genomes Europe Sub 1006 A=0.8241 T=0.1759
1000Genomes South Asian Sub 978 A=0.831 T=0.169
1000Genomes American Sub 694 A=0.903 T=0.097
Genetic variation in the Estonian population Estonian Study-wide 4480 A=0.8569 T=0.1431
The Avon Longitudinal Study of Parents and Children PARENT AND CHILD COHORT Study-wide 3854 A=0.8555 T=0.1445
UK 10K study - Twins TWIN COHORT Study-wide 3708 A=0.8390 T=0.1610
KOREAN population from KRGDB KOREAN Study-wide 2922 A=0.9596 T=0.0404
HapMap Global Study-wide 1886 A=0.8473 T=0.1527
HapMap American Sub 768 A=0.880 T=0.120
HapMap African Sub 690 A=0.791 T=0.209
HapMap Asian Sub 254 A=0.949 T=0.051
HapMap Europe Sub 174 A=0.776 T=0.224
Korean Genome Project KOREAN Study-wide 1832 A=0.9536 T=0.0464
Genome of the Netherlands Release 5 Genome of the Netherlands Study-wide 998 A=0.841 T=0.159
CNV burdens in cranial meningiomas Global Study-wide 790 A=0.965 T=0.035
CNV burdens in cranial meningiomas CRM Sub 790 A=0.965 T=0.035
Northern Sweden ACPOP Study-wide 600 A=0.837 T=0.163
Medical Genome Project healthy controls from Spanish population Spanish controls Study-wide 534 A=0.831 T=0.169
FINRISK Finnish from FINRISK project Study-wide 304 A=0.914 T=0.086
Qatari Global Study-wide 216 A=0.861 T=0.139
A Vietnamese Genetic Variation Database Global Study-wide 214 A=0.963 T=0.037
SGDP_PRJ Global Study-wide 124 A=0.460 T=0.540
The Danish reference pan genome Danish Study-wide 40 A=0.82 T=0.17
Siberian Global Study-wide 2 A=0.0 T=1.0
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.9090027A>C
GRCh38.p14 chr 12 NC_000012.12:g.9090027A>T
GRCh37.p13 chr 12 NC_000012.11:g.9242623A>C
GRCh37.p13 chr 12 NC_000012.11:g.9242623A>T
A2M RefSeqGene (LRG_591) NG_011717.2:g.30936T>G
A2M RefSeqGene (LRG_591) NG_011717.2:g.30936T>A
Gene: A2M, alpha-2-macroglobulin (minus strand)
Molecule type Change Amino acid[Codon] SO Term
A2M transcript variant 1 NM_000014.6:c.2597-4T>G N/A Intron Variant
A2M transcript variant 2 NM_001347423.2:c.2597-4T>G N/A Intron Variant
A2M transcript variant 3 NM_001347424.2:c.2297-4T>G N/A Intron Variant
A2M transcript variant 4 NM_001347425.2:c.2147-4T>G N/A Intron Variant
A2M transcript variant X1 XM_006719056.4:c.2597-4T>G N/A Intron Variant
Gene: KLRG1, killer cell lectin like receptor G1 (plus strand)
Molecule type Change Amino acid[Codon] SO Term
KLRG1 transcript variant 1 NM_001329099.2:c. N/A Genic Downstream Transcript Variant
KLRG1 transcript variant 3 NM_001329101.2:c. N/A Genic Downstream Transcript Variant
KLRG1 transcript variant 4 NM_001329102.2:c. N/A Genic Downstream Transcript Variant
KLRG1 transcript variant 5 NM_001329103.2:c. N/A Genic Downstream Transcript Variant
KLRG1 transcript variant 2 NM_005810.4:c. N/A Genic Downstream Transcript Variant
KLRG1 transcript variant 6 NR_137426.2:n. N/A Genic Downstream Transcript Variant
KLRG1 transcript variant 7 NR_137427.2:n. N/A Genic Downstream Transcript Variant
KLRG1 transcript variant 8 NR_137428.2:n. N/A Genic Downstream Transcript Variant
KLRG1 transcript variant X2 XM_017018684.2:c.*33+3186…

XM_017018684.2:c.*33+31861A>C

 		N/A Intron Variant
KLRG1 transcript variant X3 XM_017018685.2:c.*33+3186…

XM_017018685.2:c.*33+31861A>C

 		N/A Intron Variant
KLRG1 transcript variant X4 XM_047428074.1:c.*33+3186…

XM_047428074.1:c.*33+31861A>C

 		N/A Intron Variant
KLRG1 transcript variant X1 XM_017018682.2:c. N/A Genic Downstream Transcript Variant
KLRG1 transcript variant X5 XM_047428075.1:c. N/A Genic Downstream Transcript 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 A= C T
GRCh38.p14 chr 12 NC_000012.12:g.9090027= NC_000012.12:g.9090027A>C NC_000012.12:g.9090027A>T
GRCh37.p13 chr 12 NC_000012.11:g.9242623= NC_000012.11:g.9242623A>C NC_000012.11:g.9242623A>T
A2M RefSeqGene (LRG_591) NG_011717.2:g.30936= NG_011717.2:g.30936T>G NG_011717.2:g.30936T>A
A2M transcript NM_000014.4:c.2597-4= NM_000014.4:c.2597-4T>G NM_000014.4:c.2597-4T>A
A2M transcript variant 1 NM_000014.6:c.2597-4= NM_000014.6:c.2597-4T>G NM_000014.6:c.2597-4T>A
A2M transcript variant 2 NM_001347423.2:c.2597-4= NM_001347423.2:c.2597-4T>G NM_001347423.2:c.2597-4T>A
A2M transcript variant 3 NM_001347424.2:c.2297-4= NM_001347424.2:c.2297-4T>G NM_001347424.2:c.2297-4T>A
A2M transcript variant 4 NM_001347425.2:c.2147-4= NM_001347425.2:c.2147-4T>G NM_001347425.2:c.2147-4T>A
A2M transcript variant X1 XM_006719056.4:c.2597-4= XM_006719056.4:c.2597-4T>G XM_006719056.4:c.2597-4T>A
KLRG1 transcript variant X2 XM_017018684.2:c.*33+31861= XM_017018684.2:c.*33+31861A>C XM_017018684.2:c.*33+31861A>T
KLRG1 transcript variant X3 XM_017018685.2:c.*33+31861= XM_017018685.2:c.*33+31861A>C XM_017018685.2:c.*33+31861A>T
KLRG1 transcript variant X4 XM_047428074.1:c.*33+31861= XM_047428074.1:c.*33+31861A>C XM_047428074.1:c.*33+31861A>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#.

88 SubSNP, 26 Frequency submissions
No Submitter Submission ID Date (Build)
1 CSHL-HAPMAP ss16566563 Feb 28, 2004 (120)
2 SSAHASNP ss20941307 Apr 05, 2004 (121)
3 ABI ss38894726 Mar 14, 2006 (126)
4 AFFY ss66378671 Nov 30, 2006 (127)
5 AFFY ss76110649 Dec 06, 2007 (129)
6 CGM_KYOTO ss76873667 Dec 06, 2007 (129)
7 HGSV ss78985036 Dec 06, 2007 (129)
8 KRIBB_YJKIM ss82893749 Dec 15, 2007 (130)
9 1000GENOMES ss111454204 Jan 25, 2009 (130)
10 1000GENOMES ss113143503 Jan 25, 2009 (130)
11 ILLUMINA-UK ss118559057 Feb 14, 2009 (130)
12 ILLUMINA ss159985349 Dec 01, 2009 (131)
13 ENSEMBL ss161560071 Dec 01, 2009 (131)
14 COMPLETE_GENOMICS ss169015187 Jul 04, 2010 (132)
15 COMPLETE_GENOMICS ss170364836 Jul 04, 2010 (132)
16 AFFY ss172538515 Jul 04, 2010 (132)
17 BUSHMAN ss203526681 Jul 04, 2010 (132)
18 1000GENOMES ss225597213 Jul 14, 2010 (132)
19 1000GENOMES ss235816339 Jul 15, 2010 (132)
20 PJP ss291319734 May 09, 2011 (134)
21 ILLUMINA ss480007190 Sep 08, 2015 (146)
22 1000GENOMES ss491036550 May 04, 2012 (137)
23 CLINSEQ_SNP ss491660074 May 04, 2012 (137)
24 ILLUMINA ss535992611 Sep 08, 2015 (146)
25 TISHKOFF ss562983570 Apr 25, 2013 (138)
26 NHLBI-ESP ss713075772 Apr 25, 2013 (138)
27 JMKIDD_LAB ss974482552 Aug 21, 2014 (142)
28 EVA-GONL ss989221866 Aug 21, 2014 (142)
29 JMKIDD_LAB ss1067531474 Aug 21, 2014 (142)
30 JMKIDD_LAB ss1078235235 Aug 21, 2014 (142)
31 1000GENOMES ss1388094309 Apr 01, 2015 (144)
32 EVA_GENOME_DK ss1576103725 Apr 01, 2015 (144)
33 EVA_FINRISK ss1584080197 Apr 01, 2015 (144)
34 EVA_UK10K_ALSPAC ss1627985317 Apr 01, 2015 (144)
35 EVA_UK10K_TWINSUK ss1670979350 Apr 01, 2015 (144)
36 EVA_EXAC ss1690784438 Apr 01, 2015 (144)
37 EVA_MGP ss1711320061 Apr 01, 2015 (144)
38 EVA_SVP ss1713305661 Apr 01, 2015 (144)
39 HAMMER_LAB ss1807112039 Sep 08, 2015 (146)
40 WEILL_CORNELL_DGM ss1932585932 Feb 12, 2016 (147)
41 JJLAB ss2027038093 Sep 14, 2016 (149)
42 USC_VALOUEV ss2155360121 Dec 20, 2016 (150)
43 HUMAN_LONGEVITY ss2187674829 Dec 20, 2016 (150)
44 GRF ss2699683713 Nov 08, 2017 (151)
45 GNOMAD ss2739622583 Nov 08, 2017 (151)
46 GNOMAD ss2748810067 Nov 08, 2017 (151)
47 GNOMAD ss2907176261 Nov 08, 2017 (151)
48 SWEGEN ss3009178712 Nov 08, 2017 (151)
49 BIOINF_KMB_FNS_UNIBA ss3027322891 Nov 08, 2017 (151)
50 CSHL ss3349914734 Nov 08, 2017 (151)
51 ILLUMINA ss3626812531 Oct 12, 2018 (152)
52 ILLUMINA ss3636174210 Oct 12, 2018 (152)
53 OMUKHERJEE_ADBS ss3646437579 Oct 12, 2018 (152)
54 EGCUT_WGS ss3676502066 Jul 13, 2019 (153)
55 EVA_DECODE ss3693084332 Jul 13, 2019 (153)
56 ACPOP ss3738756485 Jul 13, 2019 (153)
57 EVA ss3750122175 Jul 13, 2019 (153)
58 KHV_HUMAN_GENOMES ss3815438501 Jul 13, 2019 (153)
59 EVA ss3824703887 Apr 26, 2020 (154)
60 EVA ss3825816234 Apr 26, 2020 (154)
61 EVA ss3832966240 Apr 26, 2020 (154)
62 SGDP_PRJ ss3877657521 Apr 26, 2020 (154)
63 KRGDB ss3926165421 Apr 26, 2020 (154)
64 KOGIC ss3971254885 Apr 26, 2020 (154)
65 FSA-LAB ss3984021091 Apr 27, 2021 (155)
66 EVA ss3984662072 Apr 27, 2021 (155)
67 EVA ss3986558599 Apr 27, 2021 (155)
68 TOPMED ss4908186998 Apr 27, 2021 (155)
69 TOMMO_GENOMICS ss5204995676 Apr 27, 2021 (155)
70 EVA ss5237659377 Oct 16, 2022 (156)
71 1000G_HIGH_COVERAGE ss5289755916 Oct 16, 2022 (156)
72 TRAN_CS_UWATERLOO ss5314434610 Oct 16, 2022 (156)
73 EVA ss5403827158 Oct 16, 2022 (156)
74 HUGCELL_USP ss5484649420 Oct 16, 2022 (156)
75 EVA ss5510590012 Oct 16, 2022 (156)
76 1000G_HIGH_COVERAGE ss5586652697 Oct 16, 2022 (156)
77 EVA ss5623956360 Oct 16, 2022 (156)
78 EVA ss5624029051 Oct 16, 2022 (156)
79 SANFORD_IMAGENETICS ss5652561899 Oct 16, 2022 (156)
80 TOMMO_GENOMICS ss5753770917 Oct 16, 2022 (156)
81 EVA ss5800174470 Oct 16, 2022 (156)
82 YY_MCH ss5812993859 Oct 16, 2022 (156)
83 EVA ss5837567587 Oct 16, 2022 (156)
84 EVA ss5848345398 Oct 16, 2022 (156)
85 EVA ss5850253559 Oct 16, 2022 (156)
86 EVA ss5903227851 Oct 16, 2022 (156)
87 EVA ss5943908871 Oct 16, 2022 (156)
88 EVA ss5980720464 Oct 16, 2022 (156)
89 1000Genomes NC_000012.11 - 9242623 Oct 12, 2018 (152)
90 1000Genomes_30x NC_000012.12 - 9090027 Oct 16, 2022 (156)
91 The Avon Longitudinal Study of Parents and Children NC_000012.11 - 9242623 Oct 12, 2018 (152)
92 Genetic variation in the Estonian population NC_000012.11 - 9242623 Oct 12, 2018 (152)
93 ExAC NC_000012.11 - 9242623 Oct 12, 2018 (152)
94 FINRISK NC_000012.11 - 9242623 Apr 26, 2020 (154)
95 The Danish reference pan genome NC_000012.11 - 9242623 Apr 26, 2020 (154)
96 gnomAD - Genomes NC_000012.12 - 9090027 Apr 27, 2021 (155)
97 gnomAD - Exomes NC_000012.11 - 9242623 Jul 13, 2019 (153)
98 GO Exome Sequencing Project NC_000012.11 - 9242623 Oct 12, 2018 (152)
99 Genome of the Netherlands Release 5 NC_000012.11 - 9242623 Apr 26, 2020 (154)
100 HapMap NC_000012.12 - 9090027 Apr 26, 2020 (154)
101 KOREAN population from KRGDB NC_000012.11 - 9242623 Apr 26, 2020 (154)
102 Korean Genome Project NC_000012.12 - 9090027 Apr 26, 2020 (154)
103 Medical Genome Project healthy controls from Spanish population NC_000012.11 - 9242623 Apr 26, 2020 (154)
104 Northern Sweden NC_000012.11 - 9242623 Jul 13, 2019 (153)
105 CNV burdens in cranial meningiomas NC_000012.11 - 9242623 Apr 27, 2021 (155)
106 Qatari NC_000012.11 - 9242623 Apr 26, 2020 (154)
107 SGDP_PRJ NC_000012.11 - 9242623 Apr 26, 2020 (154)
108 Siberian NC_000012.11 - 9242623 Apr 26, 2020 (154)
109 8.3KJPN NC_000012.11 - 9242623 Apr 27, 2021 (155)
110 14KJPN NC_000012.12 - 9090027 Oct 16, 2022 (156)
111 TopMed NC_000012.12 - 9090027 Apr 27, 2021 (155)
112 UK 10K study - Twins NC_000012.11 - 9242623 Oct 12, 2018 (152)
113 A Vietnamese Genetic Variation Database NC_000012.11 - 9242623 Jul 13, 2019 (153)
114 ALFA NC_000012.12 - 9090027 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)
rs60837267 Feb 26, 2009 (130)
Added to this RefSNP Cluster:
Submission IDs Observation SPDI Canonical SPDI Source RSIDs
867109001 NC_000012.12:9090026:A:C NC_000012.12:9090026:A:C (self)
ss78985036 NC_000012.9:9133889:A:T NC_000012.12:9090026:A:T (self)
ss66378671, ss76110649, ss111454204, ss113143503, ss118559057, ss169015187, ss170364836, ss172538515, ss203526681, ss291319734, ss491660074, ss1713305661 NC_000012.10:9133889:A:T NC_000012.12:9090026:A:T (self)
56561016, 31406543, 22240314, 1071359, 76658, 2836587, 8848629, 1161379, 14011157, 33342815, 435821, 12041350, 211563, 14627862, 29674501, 7876475, 62964983, 31406543, 6966333, ss225597213, ss235816339, ss480007190, ss491036550, ss535992611, ss562983570, ss713075772, ss974482552, ss989221866, ss1067531474, ss1078235235, ss1388094309, ss1576103725, ss1584080197, ss1627985317, ss1670979350, ss1690784438, ss1711320061, ss1807112039, ss1932585932, ss2027038093, ss2155360121, ss2699683713, ss2739622583, ss2748810067, ss2907176261, ss3009178712, ss3349914734, ss3626812531, ss3636174210, ss3646437579, ss3676502066, ss3738756485, ss3750122175, ss3824703887, ss3825816234, ss3832966240, ss3877657521, ss3926165421, ss3984021091, ss3984662072, ss3986558599, ss5204995676, ss5403827158, ss5510590012, ss5623956360, ss5624029051, ss5652561899, ss5800174470, ss5837567587, ss5848345398, ss5943908871, ss5980720464 NC_000012.11:9242622:A:T NC_000012.12:9090026:A:T (self)
74178632, 398844412, 752219, 27632886, 87608021, 123732655, 867109001, ss2187674829, ss3027322891, ss3693084332, ss3815438501, ss3971254885, ss4908186998, ss5237659377, ss5289755916, ss5314434610, ss5484649420, ss5586652697, ss5753770917, ss5812993859, ss5850253559, ss5903227851 NC_000012.12:9090026:A:T NC_000012.12:9090026:A:T (self)
ss16566563, ss20941307 NT_009714.16:2001596:A:T NC_000012.12:9090026:A:T (self)
ss38894726, ss76873667, ss82893749, ss159985349, ss161560071 NT_009714.17:2002746:A:T NC_000012.12:9090026:A:T (self)
Help

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

1 citation for rs11609582
PMID Title Author Year Journal
34958020 Association Between Common Variants of APOE, ABCA7, A2M, BACE1, and Cerebrospinal Fluid Biomarkers in Alzheimer's Disease: Data from the PUMCH Dementia Cohort. Dong L et al. 2022 Journal of Alzheimer's disease
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