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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.

rs472197

Current Build 156

Released September 21, 2022

Organism
Homo sapiens
Position
chr12:69532924 (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>C
Variation Type
SNV Single Nucleotide Variation
Frequency
G=0.386497 (102302/264690, TOPMED)
G=0.474873 (97385/205076, GENOGRAPHIC)
G=0.399884 (55963/139948, GnomAD) (+ 20 more)
G=0.45953 (32103/69860, ALFA)
G=0.27592 (7797/28258, 14KJPN)
G=0.27709 (4644/16760, 8.3KJPN)
G=0.3471 (2223/6404, 1000G_30x)
G=0.3488 (1747/5008, 1000G)
A=0.4886 (2189/4480, Estonian)
G=0.4971 (1916/3854, ALSPAC)
G=0.4962 (1840/3708, TWINSUK)
G=0.3058 (896/2930, KOREAN)
G=0.4020 (837/2082, HGDP_Stanford)
G=0.3149 (592/1880, HapMap)
G=0.3051 (559/1832, Korea1K)
A=0.497 (496/998, GoNL)
A=0.422 (253/600, NorthernSweden)
G=0.271 (123/454, SGDP_PRJ)
G=0.389 (84/216, Qatari)
G=0.472 (102/216, Vietnamese)
A=0.47 (19/40, GENOME_DK)
G=0.33 (13/40, Siberian)
A=0.44 (8/18, Ancient Sardinia)
Clinical Significance
Not Reported in ClinVar
Gene : Consequence
FRS2 : 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 69860 G=0.45953 A=0.54047
European Sub 57248 G=0.49141 A=0.50859
African Sub 4526 G=0.1825 A=0.8175
African Others Sub 170 G=0.124 A=0.876
African American Sub 4356 G=0.1848 A=0.8152
Asian Sub 190 G=0.337 A=0.663
East Asian Sub 148 G=0.324 A=0.676
Other Asian Sub 42 G=0.38 A=0.62
Latin American 1 Sub 254 G=0.421 A=0.579
Latin American 2 Sub 1232 G=0.5308 A=0.4692
South Asian Sub 4956 G=0.3410 A=0.6590
Other Sub 1454 G=0.4333 A=0.5667


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=0.386497 A=0.613503
Genographic Project Global Study-wide 205076 G=0.474873 A=0.525127
gnomAD - Genomes Global Study-wide 139948 G=0.399884 A=0.600116
gnomAD - Genomes European Sub 75780 G=0.50624 A=0.49376
gnomAD - Genomes African Sub 41972 G=0.18083 A=0.81917
gnomAD - Genomes American Sub 13622 G=0.48620 A=0.51380
gnomAD - Genomes Ashkenazi Jewish Sub 3314 G=0.4065 A=0.5935
gnomAD - Genomes East Asian Sub 3112 G=0.3638 A=0.6362
gnomAD - Genomes Other Sub 2148 G=0.4227 A=0.5773
Allele Frequency Aggregator Total Global 69860 G=0.45953 A=0.54047
Allele Frequency Aggregator European Sub 57248 G=0.49141 A=0.50859
Allele Frequency Aggregator South Asian Sub 4956 G=0.3410 A=0.6590
Allele Frequency Aggregator African Sub 4526 G=0.1825 A=0.8175
Allele Frequency Aggregator Other Sub 1454 G=0.4333 A=0.5667
Allele Frequency Aggregator Latin American 2 Sub 1232 G=0.5308 A=0.4692
Allele Frequency Aggregator Latin American 1 Sub 254 G=0.421 A=0.579
Allele Frequency Aggregator Asian Sub 190 G=0.337 A=0.663
14KJPN JAPANESE Study-wide 28258 G=0.27592 A=0.72408
8.3KJPN JAPANESE Study-wide 16760 G=0.27709 A=0.72291
1000Genomes_30x Global Study-wide 6404 G=0.3471 A=0.6529
1000Genomes_30x African Sub 1786 G=0.1249 A=0.8751
1000Genomes_30x Europe Sub 1266 G=0.5000 A=0.5000
1000Genomes_30x South Asian Sub 1202 G=0.3328 A=0.6672
1000Genomes_30x East Asian Sub 1170 G=0.4085 A=0.5915
1000Genomes_30x American Sub 980 G=0.499 A=0.501
1000Genomes Global Study-wide 5008 G=0.3488 A=0.6512
1000Genomes African Sub 1322 G=0.1218 A=0.8782
1000Genomes East Asian Sub 1008 G=0.4067 A=0.5933
1000Genomes Europe Sub 1006 G=0.5020 A=0.4980
1000Genomes South Asian Sub 978 G=0.338 A=0.662
1000Genomes American Sub 694 G=0.490 A=0.510
Genetic variation in the Estonian population Estonian Study-wide 4480 G=0.5114 A=0.4886
The Avon Longitudinal Study of Parents and Children PARENT AND CHILD COHORT Study-wide 3854 G=0.4971 A=0.5029
UK 10K study - Twins TWIN COHORT Study-wide 3708 G=0.4962 A=0.5038
KOREAN population from KRGDB KOREAN Study-wide 2930 G=0.3058 A=0.6942, C=0.0000
HGDP-CEPH-db Supplement 1 Global Study-wide 2082 G=0.4020 A=0.5980
HGDP-CEPH-db Supplement 1 Est_Asia Sub 470 G=0.385 A=0.615
HGDP-CEPH-db Supplement 1 Central_South_Asia Sub 414 G=0.338 A=0.662
HGDP-CEPH-db Supplement 1 Middle_Est Sub 350 G=0.434 A=0.566
HGDP-CEPH-db Supplement 1 Europe Sub 318 G=0.500 A=0.500
HGDP-CEPH-db Supplement 1 Africa Sub 242 G=0.136 A=0.864
HGDP-CEPH-db Supplement 1 America Sub 216 G=0.644 A=0.356
HGDP-CEPH-db Supplement 1 Oceania Sub 72 G=0.46 A=0.54
HapMap Global Study-wide 1880 G=0.3149 A=0.6851
HapMap American Sub 762 G=0.395 A=0.605
HapMap African Sub 690 G=0.194 A=0.806
HapMap Asian Sub 252 G=0.266 A=0.734
HapMap Europe Sub 176 G=0.511 A=0.489
Korean Genome Project KOREAN Study-wide 1832 G=0.3051 A=0.6949
Genome of the Netherlands Release 5 Genome of the Netherlands Study-wide 998 G=0.503 A=0.497
Northern Sweden ACPOP Study-wide 600 G=0.578 A=0.422
SGDP_PRJ Global Study-wide 454 G=0.271 A=0.729
Qatari Global Study-wide 216 G=0.389 A=0.611
A Vietnamese Genetic Variation Database Global Study-wide 216 G=0.472 A=0.528
The Danish reference pan genome Danish Study-wide 40 G=0.53 A=0.47
Siberian Global Study-wide 40 G=0.33 A=0.68
Ancient Sardinia genome-wide 1240k capture data generation and analysis Global Study-wide 18 G=0.56 A=0.44
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.69532924G>A
GRCh38.p14 chr 12 NC_000012.12:g.69532924G>C
GRCh37.p13 chr 12 NC_000012.11:g.69926704G>A
GRCh37.p13 chr 12 NC_000012.11:g.69926704G>C
Gene: FRS2, fibroblast growth factor receptor substrate 2 (plus strand)
Molecule type Change Amino acid[Codon] SO Term
FRS2 transcript variant 2 NM_001042555.3:c.-122+868…

NM_001042555.3:c.-122+868G>A

N/A Intron Variant
FRS2 transcript variant 3 NM_001278351.2:c.-190+868…

NM_001278351.2:c.-190+868G>A

N/A Intron Variant
FRS2 transcript variant 4 NM_001278353.2:c.-247+868…

NM_001278353.2:c.-247+868G>A

N/A Intron Variant
FRS2 transcript variant 5 NM_001278354.2:c.-122+868…

NM_001278354.2:c.-122+868G>A

N/A Intron Variant
FRS2 transcript variant 6 NM_001278355.2:c.-122+868…

NM_001278355.2:c.-122+868G>A

N/A Intron Variant
FRS2 transcript variant 7 NM_001278356.2:c.-122+868…

NM_001278356.2:c.-122+868G>A

N/A Intron Variant
FRS2 transcript variant 8 NM_001278357.2:c.-121-292…

NM_001278357.2:c.-121-29256G>A

N/A Intron Variant
FRS2 transcript variant 1 NM_006654.5:c.-190+868G>A N/A Intron Variant
FRS2 transcript variant X1 XM_017018717.2:c.-292+868…

XM_017018717.2:c.-292+868G>A

N/A Intron Variant
FRS2 transcript variant X3 XM_017018718.2:c.-190+868…

XM_017018718.2:c.-190+868G>A

N/A Intron Variant
FRS2 transcript variant X2 XM_047428118.1:c.-179+868…

XM_047428118.1:c.-179+868G>A

N/A Intron Variant
FRS2 transcript variant X4 XM_047428119.1:c.-122+868…

XM_047428119.1:c.-122+868G>A

N/A Intron Variant
FRS2 transcript variant X5 XM_047428120.1:c.-122+868…

XM_047428120.1:c.-122+868G>A

N/A Intron Variant
FRS2 transcript variant X7 XM_047428121.1:c.-122+868…

XM_047428121.1:c.-122+868G>A

N/A Intron Variant
FRS2 transcript variant X8 XM_047428122.1:c.-122+868…

XM_047428122.1:c.-122+868G>A

N/A Intron Variant
FRS2 transcript variant X6 XM_017018719.2:c. N/A Genic Upstream Transcript Variant
FRS2 transcript variant X9 XM_047428123.1:c. N/A Genic Upstream 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 G= A C
GRCh38.p14 chr 12 NC_000012.12:g.69532924= NC_000012.12:g.69532924G>A NC_000012.12:g.69532924G>C
GRCh37.p13 chr 12 NC_000012.11:g.69926704= NC_000012.11:g.69926704G>A NC_000012.11:g.69926704G>C
FRS2 transcript variant 2 NM_001042555.2:c.-122+868= NM_001042555.2:c.-122+868G>A NM_001042555.2:c.-122+868G>C
FRS2 transcript variant 2 NM_001042555.3:c.-122+868= NM_001042555.3:c.-122+868G>A NM_001042555.3:c.-122+868G>C
FRS2 transcript variant 3 NM_001278351.1:c.-190+868= NM_001278351.1:c.-190+868G>A NM_001278351.1:c.-190+868G>C
FRS2 transcript variant 3 NM_001278351.2:c.-190+868= NM_001278351.2:c.-190+868G>A NM_001278351.2:c.-190+868G>C
FRS2 transcript variant 4 NM_001278353.1:c.-247+868= NM_001278353.1:c.-247+868G>A NM_001278353.1:c.-247+868G>C
FRS2 transcript variant 4 NM_001278353.2:c.-247+868= NM_001278353.2:c.-247+868G>A NM_001278353.2:c.-247+868G>C
FRS2 transcript variant 5 NM_001278354.1:c.-122+868= NM_001278354.1:c.-122+868G>A NM_001278354.1:c.-122+868G>C
FRS2 transcript variant 5 NM_001278354.2:c.-122+868= NM_001278354.2:c.-122+868G>A NM_001278354.2:c.-122+868G>C
FRS2 transcript variant 6 NM_001278355.1:c.-122+868= NM_001278355.1:c.-122+868G>A NM_001278355.1:c.-122+868G>C
FRS2 transcript variant 6 NM_001278355.2:c.-122+868= NM_001278355.2:c.-122+868G>A NM_001278355.2:c.-122+868G>C
FRS2 transcript variant 7 NM_001278356.1:c.-122+868= NM_001278356.1:c.-122+868G>A NM_001278356.1:c.-122+868G>C
FRS2 transcript variant 7 NM_001278356.2:c.-122+868= NM_001278356.2:c.-122+868G>A NM_001278356.2:c.-122+868G>C
FRS2 transcript variant 8 NM_001278357.1:c.-121-29256= NM_001278357.1:c.-121-29256G>A NM_001278357.1:c.-121-29256G>C
FRS2 transcript variant 8 NM_001278357.2:c.-121-29256= NM_001278357.2:c.-121-29256G>A NM_001278357.2:c.-121-29256G>C
FRS2 transcript variant 1 NM_006654.4:c.-190+868= NM_006654.4:c.-190+868G>A NM_006654.4:c.-190+868G>C
FRS2 transcript variant 1 NM_006654.5:c.-190+868= NM_006654.5:c.-190+868G>A NM_006654.5:c.-190+868G>C
FRS2 transcript variant X1 XM_017018717.2:c.-292+868= XM_017018717.2:c.-292+868G>A XM_017018717.2:c.-292+868G>C
FRS2 transcript variant X3 XM_017018718.2:c.-190+868= XM_017018718.2:c.-190+868G>A XM_017018718.2:c.-190+868G>C
FRS2 transcript variant X2 XM_047428118.1:c.-179+868= XM_047428118.1:c.-179+868G>A XM_047428118.1:c.-179+868G>C
FRS2 transcript variant X4 XM_047428119.1:c.-122+868= XM_047428119.1:c.-122+868G>A XM_047428119.1:c.-122+868G>C
FRS2 transcript variant X5 XM_047428120.1:c.-122+868= XM_047428120.1:c.-122+868G>A XM_047428120.1:c.-122+868G>C
FRS2 transcript variant X7 XM_047428121.1:c.-122+868= XM_047428121.1:c.-122+868G>A XM_047428121.1:c.-122+868G>C
FRS2 transcript variant X8 XM_047428122.1:c.-122+868= XM_047428122.1:c.-122+868G>A XM_047428122.1:c.-122+868G>C
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#.

101 SubSNP, 23 Frequency submissions
No Submitter Submission ID Date (Build)
1 SC_JCM ss641564 Aug 11, 2000 (83)
2 KWOK ss990430 Oct 04, 2000 (86)
3 KWOK ss1051078 Oct 04, 2000 (86)
4 KWOK ss1716411 Oct 18, 2000 (87)
5 KWOK ss1747168 Oct 18, 2000 (87)
6 SC_SNP ss15940736 Feb 27, 2004 (120)
7 CSHL-HAPMAP ss17480812 Feb 27, 2004 (120)
8 ABI ss38988705 Mar 15, 2006 (126)
9 ILLUMINA ss65718820 Oct 15, 2006 (127)
10 ILLUMINA ss67364862 Nov 30, 2006 (127)
11 ILLUMINA ss67750088 Nov 30, 2006 (127)
12 ILLUMINA ss68234436 Dec 12, 2006 (127)
13 ILLUMINA ss70819038 May 24, 2008 (130)
14 ILLUMINA ss71400297 May 17, 2007 (127)
15 ILLUMINA ss75898923 Dec 07, 2007 (129)
16 HGSV ss78254505 Dec 07, 2007 (129)
17 KRIBB_YJKIM ss83460586 Dec 15, 2007 (130)
18 HGSV ss85190971 Dec 15, 2007 (130)
19 BCMHGSC_JDW ss89229170 Mar 24, 2008 (129)
20 BGI ss106813891 Feb 04, 2009 (130)
21 1000GENOMES ss112115140 Jan 25, 2009 (130)
22 1000GENOMES ss113708520 Jan 25, 2009 (130)
23 ILLUMINA-UK ss118889873 Feb 14, 2009 (130)
24 ILLUMINA ss120241555 Dec 01, 2009 (131)
25 ENSEMBL ss133231498 Dec 01, 2009 (131)
26 ILLUMINA ss154310937 Dec 01, 2009 (131)
27 GMI ss157607851 Dec 01, 2009 (131)
28 ILLUMINA ss159487652 Dec 01, 2009 (131)
29 ENSEMBL ss161544647 Dec 01, 2009 (131)
30 COMPLETE_GENOMICS ss168471115 Jul 04, 2010 (132)
31 COMPLETE_GENOMICS ss170169684 Jul 04, 2010 (132)
32 ILLUMINA ss173790370 Jul 04, 2010 (132)
33 BUSHMAN ss198353286 Jul 04, 2010 (132)
34 1000GENOMES ss235979339 Jul 15, 2010 (132)
35 1000GENOMES ss242530614 Jul 15, 2010 (132)
36 ILLUMINA ss244259043 Jul 04, 2010 (132)
37 BL ss255205210 May 09, 2011 (134)
38 GMI ss281444405 May 04, 2012 (137)
39 PJP ss291275956 May 09, 2011 (134)
40 ILLUMINA ss537263806 Sep 08, 2015 (146)
41 TISHKOFF ss563237176 Apr 25, 2013 (138)
42 SSMP ss658801857 Apr 25, 2013 (138)
43 ILLUMINA ss832999064 Aug 21, 2014 (142)
44 ILLUMINA ss833589893 Aug 21, 2014 (142)
45 EVA-GONL ss989660478 Aug 21, 2014 (142)
46 JMKIDD_LAB ss1078551823 Aug 21, 2014 (142)
47 1000GENOMES ss1345508087 Aug 21, 2014 (142)
48 DDI ss1426970237 Apr 01, 2015 (144)
49 EVA_GENOME_DK ss1576353989 Apr 01, 2015 (144)
50 EVA_DECODE ss1599338646 Apr 01, 2015 (144)
51 EVA_UK10K_ALSPAC ss1628845909 Apr 01, 2015 (144)
52 EVA_UK10K_TWINSUK ss1671839942 Apr 01, 2015 (144)
53 EVA_SVP ss1713336860 Apr 01, 2015 (144)
54 HAMMER_LAB ss1807298558 Sep 08, 2015 (146)
55 WEILL_CORNELL_DGM ss1933024069 Feb 12, 2016 (147)
56 GENOMED ss1967617156 Jul 19, 2016 (147)
57 JJLAB ss2027262320 Sep 14, 2016 (149)
58 USC_VALOUEV ss2155605265 Dec 20, 2016 (150)
59 HUMAN_LONGEVITY ss2190799207 Dec 20, 2016 (150)
60 SYSTEMSBIOZJU ss2628114025 Nov 08, 2017 (151)
61 ILLUMINA ss2632974534 Nov 08, 2017 (151)
62 ILLUMINA ss2635038044 Nov 08, 2017 (151)
63 GRF ss2699954880 Nov 08, 2017 (151)
64 GNOMAD ss2911932423 Nov 08, 2017 (151)
65 SWEGEN ss3009891498 Nov 08, 2017 (151)
66 BIOINF_KMB_FNS_UNIBA ss3027440447 Nov 08, 2017 (151)
67 CSHL ss3350120038 Nov 08, 2017 (151)
68 ILLUMINA ss3626906395 Oct 12, 2018 (152)
69 ILLUMINA ss3637970829 Oct 12, 2018 (152)
70 ILLUMINA ss3638998529 Oct 12, 2018 (152)
71 ILLUMINA ss3639809760 Oct 12, 2018 (152)
72 ILLUMINA ss3642963716 Oct 12, 2018 (152)
73 ILLUMINA ss3643861230 Oct 12, 2018 (152)
74 EGCUT_WGS ss3677162419 Jul 13, 2019 (153)
75 EVA_DECODE ss3693911259 Jul 13, 2019 (153)
76 ACPOP ss3739128323 Jul 13, 2019 (153)
77 EVA ss3750626429 Jul 13, 2019 (153)
78 KHV_HUMAN_GENOMES ss3815959105 Jul 13, 2019 (153)
79 EVA ss3833184017 Apr 27, 2020 (154)
80 EVA ss3840162043 Apr 27, 2020 (154)
81 EVA ss3845649127 Apr 27, 2020 (154)
82 HGDP ss3847454699 Apr 27, 2020 (154)
83 SGDP_PRJ ss3878530078 Apr 27, 2020 (154)
84 KRGDB ss3927199707 Apr 27, 2020 (154)
85 KOGIC ss3972180695 Apr 27, 2020 (154)
86 EVA ss3985598006 Apr 26, 2021 (155)
87 EVA ss4017595697 Apr 26, 2021 (155)
88 TOPMED ss4922673677 Apr 26, 2021 (155)
89 TOMMO_GENOMICS ss5206886520 Apr 26, 2021 (155)
90 1000G_HIGH_COVERAGE ss5291243738 Oct 16, 2022 (156)
91 GENOGRAPHIC ss5314551848 Oct 16, 2022 (156)
92 HUGCELL_USP ss5485944970 Oct 16, 2022 (156)
93 EVA ss5510745452 Oct 16, 2022 (156)
94 1000G_HIGH_COVERAGE ss5588949991 Oct 16, 2022 (156)
95 SANFORD_IMAGENETICS ss5653396798 Oct 16, 2022 (156)
96 TOMMO_GENOMICS ss5756844888 Oct 16, 2022 (156)
97 YY_MCH ss5813404197 Oct 16, 2022 (156)
98 EVA ss5838131512 Oct 16, 2022 (156)
99 EVA ss5850431090 Oct 16, 2022 (156)
100 EVA ss5904882527 Oct 16, 2022 (156)
101 EVA ss5944769371 Oct 16, 2022 (156)
102 1000Genomes NC_000012.11 - 69926704 Oct 12, 2018 (152)
103 1000Genomes_30x NC_000012.12 - 69532924 Oct 16, 2022 (156)
104 The Avon Longitudinal Study of Parents and Children NC_000012.11 - 69926704 Oct 12, 2018 (152)
105 Genetic variation in the Estonian population NC_000012.11 - 69926704 Oct 12, 2018 (152)
106 Genographic Project NC_000012.12 - 69532924 Oct 16, 2022 (156)
107 The Danish reference pan genome NC_000012.11 - 69926704 Apr 27, 2020 (154)
108 gnomAD - Genomes NC_000012.12 - 69532924 Apr 26, 2021 (155)
109 Genome of the Netherlands Release 5 NC_000012.11 - 69926704 Apr 27, 2020 (154)
110 HGDP-CEPH-db Supplement 1 NC_000012.10 - 68212971 Apr 27, 2020 (154)
111 HapMap NC_000012.12 - 69532924 Apr 27, 2020 (154)
112 KOREAN population from KRGDB NC_000012.11 - 69926704 Apr 27, 2020 (154)
113 Korean Genome Project NC_000012.12 - 69532924 Apr 27, 2020 (154)
114 Northern Sweden NC_000012.11 - 69926704 Jul 13, 2019 (153)
115 Ancient Sardinia genome-wide 1240k capture data generation and analysis NC_000012.11 - 69926704 Apr 26, 2021 (155)
116 Qatari NC_000012.11 - 69926704 Apr 27, 2020 (154)
117 SGDP_PRJ NC_000012.11 - 69926704 Apr 27, 2020 (154)
118 Siberian NC_000012.11 - 69926704 Apr 27, 2020 (154)
119 8.3KJPN NC_000012.11 - 69926704 Apr 26, 2021 (155)
120 14KJPN NC_000012.12 - 69532924 Oct 16, 2022 (156)
121 TopMed NC_000012.12 - 69532924 Apr 26, 2021 (155)
122 UK 10K study - Twins NC_000012.11 - 69926704 Oct 12, 2018 (152)
123 A Vietnamese Genetic Variation Database NC_000012.11 - 69926704 Jul 13, 2019 (153)
124 ALFA NC_000012.12 - 69532924 Apr 26, 2021 (155)
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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)
rs58367758 May 24, 2008 (130)
rs386594894 Aug 21, 2014 (142)
Added to this RefSNP Cluster:
Submission IDs Observation SPDI Canonical SPDI Source RSIDs
ss78254505, ss85190971, ss3638998529, ss3639809760, ss3643861230 NC_000012.9:68212970:G:A NC_000012.12:69532923:G:A (self)
132591, ss89229170, ss112115140, ss113708520, ss118889873, ss168471115, ss170169684, ss198353286, ss255205210, ss281444405, ss291275956, ss1599338646, ss1713336860, ss2635038044, ss3642963716, ss3847454699 NC_000012.10:68212970:G:A NC_000012.12:69532923:G:A (self)
58275355, 32356133, 22900667, 3011555, 14436325, 34377101, 12413188, 823933, 15065999, 30547058, 8121619, 64855827, 32356133, 7180302, ss235979339, ss242530614, ss537263806, ss563237176, ss658801857, ss832999064, ss833589893, ss989660478, ss1078551823, ss1345508087, ss1426970237, ss1576353989, ss1628845909, ss1671839942, ss1807298558, ss1933024069, ss1967617156, ss2027262320, ss2155605265, ss2628114025, ss2632974534, ss2699954880, ss2911932423, ss3009891498, ss3350120038, ss3626906395, ss3637970829, ss3677162419, ss3739128323, ss3750626429, ss3833184017, ss3840162043, ss3878530078, ss3927199707, ss3985598006, ss4017595697, ss5206886520, ss5510745452, ss5653396798, ss5838131512, ss5944769371 NC_000012.11:69926703:G:A NC_000012.12:69532923:G:A (self)
76475926, 45616, 410974965, 842667, 28558696, 90681992, 138219334, 1875938825, ss2190799207, ss3027440447, ss3693911259, ss3815959105, ss3845649127, ss3972180695, ss4922673677, ss5291243738, ss5314551848, ss5485944970, ss5588949991, ss5756844888, ss5813404197, ss5850431090, ss5904882527 NC_000012.12:69532923:G:A NC_000012.12:69532923:G:A (self)
ss15940736, ss17480812 NT_029419.10:32070009:G:A NC_000012.12:69532923:G:A (self)
ss641564, ss990430, ss1051078, ss1716411, ss1747168, ss38988705, ss65718820, ss67364862, ss67750088, ss68234436, ss70819038, ss71400297, ss75898923, ss83460586, ss106813891, ss120241555, ss133231498, ss154310937, ss157607851, ss159487652, ss161544647, ss173790370, ss244259043 NT_029419.12:32070009:G:A NC_000012.12:69532923:G:A (self)
34377101, ss3927199707 NC_000012.11:69926703:G:C NC_000012.12:69532923:G:C (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 rs472197
PMID Title Author Year Journal
19324860 An international collaborative family-based whole-genome linkage scan for high-grade myopia. Li YJ et al. 2009 Investigative ophthalmology & visual science
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