Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

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.

rs9645344

Current Build 156

Released September 21, 2022

Organism
Homo sapiens
Position
chr1:241247861 (GRCh38.p14) Help

The anchor position for this RefSNP. Includes all nucleotides potentially affected by this change, thus it can differ from HGVS, which is right-shifted. See here for details.

Alleles
T>C / T>G
Variation Type
SNV Single Nucleotide Variation
Frequency
C=0.127937 (17936/140194, GnomAD)
C=0.13631 (11640/85392, ALFA)
C=0.28698 (8109/28256, 14KJPN) (+ 20 more)
C=0.28741 (4817/16760, 8.3KJPN)
C=0.1274 (816/6404, 1000G_30x)
C=0.1316 (659/5008, 1000G)
C=0.1888 (846/4480, Estonian)
C=0.1689 (651/3854, ALSPAC)
C=0.1594 (591/3708, TWINSUK)
C=0.2160 (633/2930, KOREAN)
C=0.1396 (291/2084, HGDP_Stanford)
C=0.1427 (270/1892, HapMap)
C=0.1894 (347/1832, Korea1K)
C=0.176 (176/998, GoNL)
C=0.220 (138/626, Chileans)
C=0.132 (79/600, NorthernSweden)
C=0.102 (22/216, Qatari)
C=0.162 (35/216, Vietnamese)
T=0.455 (61/134, SGDP_PRJ)
C=0.10 (4/42, Ancient Sardinia)
C=0.25 (10/40, GENOME_DK)
T=0.50 (8/16, Siberian)
C=0.50 (8/16, Siberian)
Clinical Significance
Not Reported in ClinVar
Gene : Consequence
RGS7 : Intron Variant
Publications
0 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 85392 T=0.86369 C=0.13631, G=0.00000
European Sub 68538 T=0.85310 C=0.14690, G=0.00000
African Sub 5074 T=0.9562 C=0.0438, G=0.0000
African Others Sub 188 T=0.963 C=0.037, G=0.000
African American Sub 4886 T=0.9560 C=0.0440, G=0.0000
Asian Sub 212 T=0.863 C=0.137, G=0.000
East Asian Sub 150 T=0.887 C=0.113, G=0.000
Other Asian Sub 62 T=0.81 C=0.19, G=0.00
Latin American 1 Sub 366 T=0.923 C=0.077, G=0.000
Latin American 2 Sub 3332 T=0.8902 C=0.1098, G=0.0000
South Asian Sub 4952 T=0.8752 C=0.1248, G=0.0000
Other Sub 2918 T=0.8941 C=0.1059, G=0.0000


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
gnomAD - Genomes Global Study-wide 140194 T=0.872063 C=0.127937
gnomAD - Genomes European Sub 75908 T=0.84014 C=0.15986
gnomAD - Genomes African Sub 42042 T=0.93033 C=0.06967
gnomAD - Genomes American Sub 13644 T=0.88281 C=0.11719
gnomAD - Genomes Ashkenazi Jewish Sub 3316 T=0.8935 C=0.1065
gnomAD - Genomes East Asian Sub 3132 T=0.8033 C=0.1967
gnomAD - Genomes Other Sub 2152 T=0.8587 C=0.1413
Allele Frequency Aggregator Total Global 85392 T=0.86369 C=0.13631, G=0.00000
Allele Frequency Aggregator European Sub 68538 T=0.85310 C=0.14690, G=0.00000
Allele Frequency Aggregator African Sub 5074 T=0.9562 C=0.0438, G=0.0000
Allele Frequency Aggregator South Asian Sub 4952 T=0.8752 C=0.1248, G=0.0000
Allele Frequency Aggregator Latin American 2 Sub 3332 T=0.8902 C=0.1098, G=0.0000
Allele Frequency Aggregator Other Sub 2918 T=0.8941 C=0.1059, G=0.0000
Allele Frequency Aggregator Latin American 1 Sub 366 T=0.923 C=0.077, G=0.000
Allele Frequency Aggregator Asian Sub 212 T=0.863 C=0.137, G=0.000
14KJPN JAPANESE Study-wide 28256 T=0.71302 C=0.28698
8.3KJPN JAPANESE Study-wide 16760 T=0.71259 C=0.28741
1000Genomes_30x Global Study-wide 6404 T=0.8726 C=0.1274
1000Genomes_30x African Sub 1786 T=0.9390 C=0.0610
1000Genomes_30x Europe Sub 1266 T=0.8618 C=0.1382
1000Genomes_30x South Asian Sub 1202 T=0.8744 C=0.1256
1000Genomes_30x East Asian Sub 1170 T=0.7829 C=0.2171
1000Genomes_30x American Sub 980 T=0.870 C=0.130
1000Genomes Global Study-wide 5008 T=0.8684 C=0.1316
1000Genomes African Sub 1322 T=0.9357 C=0.0643
1000Genomes East Asian Sub 1008 T=0.7808 C=0.2192
1000Genomes Europe Sub 1006 T=0.8579 C=0.1421
1000Genomes South Asian Sub 978 T=0.875 C=0.125
1000Genomes American Sub 694 T=0.873 C=0.127
Genetic variation in the Estonian population Estonian Study-wide 4480 T=0.8112 C=0.1888
The Avon Longitudinal Study of Parents and Children PARENT AND CHILD COHORT Study-wide 3854 T=0.8311 C=0.1689
UK 10K study - Twins TWIN COHORT Study-wide 3708 T=0.8406 C=0.1594
KOREAN population from KRGDB KOREAN Study-wide 2930 T=0.7840 C=0.2160
HGDP-CEPH-db Supplement 1 Global Study-wide 2084 T=0.8604 C=0.1396
HGDP-CEPH-db Supplement 1 Est_Asia Sub 470 T=0.821 C=0.179
HGDP-CEPH-db Supplement 1 Central_South_Asia Sub 414 T=0.809 C=0.191
HGDP-CEPH-db Supplement 1 Middle_Est Sub 350 T=0.886 C=0.114
HGDP-CEPH-db Supplement 1 Europe Sub 320 T=0.853 C=0.147
HGDP-CEPH-db Supplement 1 Africa Sub 242 T=0.921 C=0.079
HGDP-CEPH-db Supplement 1 America Sub 216 T=0.917 C=0.083
HGDP-CEPH-db Supplement 1 Oceania Sub 72 T=0.94 C=0.06
HapMap Global Study-wide 1892 T=0.8573 C=0.1427
HapMap American Sub 770 T=0.852 C=0.148
HapMap African Sub 692 T=0.896 C=0.104
HapMap Asian Sub 254 T=0.752 C=0.248
HapMap Europe Sub 176 T=0.881 C=0.119
Korean Genome Project KOREAN Study-wide 1832 T=0.8106 C=0.1894
Genome of the Netherlands Release 5 Genome of the Netherlands Study-wide 998 T=0.824 C=0.176
Chileans Chilean Study-wide 626 T=0.780 C=0.220
Northern Sweden ACPOP Study-wide 600 T=0.868 C=0.132
Qatari Global Study-wide 216 T=0.898 C=0.102
A Vietnamese Genetic Variation Database Global Study-wide 216 T=0.838 C=0.162
SGDP_PRJ Global Study-wide 134 T=0.455 C=0.545
Ancient Sardinia genome-wide 1240k capture data generation and analysis Global Study-wide 42 T=0.90 C=0.10
The Danish reference pan genome Danish Study-wide 40 T=0.75 C=0.25
Siberian Global Study-wide 16 T=0.50 C=0.50
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 1 NC_000001.11:g.241247861T>C
GRCh38.p14 chr 1 NC_000001.11:g.241247861T>G
GRCh37.p13 chr 1 NC_000001.10:g.241411161T>C
GRCh37.p13 chr 1 NC_000001.10:g.241411161T>G
Gene: RGS7, regulator of G protein signaling 7 (minus strand)
Molecule type Change Amino acid[Codon] SO Term
RGS7 transcript variant 2 NM_001282773.2:c.78+10783…

NM_001282773.2:c.78+107838A>G

N/A Intron Variant
RGS7 transcript variant 3 NM_001282775.2:c.78+10783…

NM_001282775.2:c.78+107838A>G

N/A Intron Variant
RGS7 transcript variant 4 NM_001282778.2:c.78+10783…

NM_001282778.2:c.78+107838A>G

N/A Intron Variant
RGS7 transcript variant 5 NM_001350113.2:c.-1+10671…

NM_001350113.2:c.-1+106716A>G

N/A Intron Variant
RGS7 transcript variant 6 NM_001350114.2:c.-1+67703…

NM_001350114.2:c.-1+67703A>G

N/A Intron Variant
RGS7 transcript variant 7 NM_001350115.2:c.-1+10671…

NM_001350115.2:c.-1+106716A>G

N/A Intron Variant
RGS7 transcript variant 8 NM_001350116.1:c.-1+67703…

NM_001350116.1:c.-1+67703A>G

N/A Intron Variant
RGS7 transcript variant 9 NM_001364886.1:c.78+10783…

NM_001364886.1:c.78+107838A>G

N/A Intron Variant
RGS7 transcript variant 10 NM_001374806.1:c.78+10783…

NM_001374806.1:c.78+107838A>G

N/A Intron Variant
RGS7 transcript variant 11 NM_001374807.1:c.78+10783…

NM_001374807.1:c.78+107838A>G

N/A Intron Variant
RGS7 transcript variant 12 NM_001374808.1:c.-147+107…

NM_001374808.1:c.-147+107838A>G

N/A Intron Variant
RGS7 transcript variant 13 NM_001374809.1:c.-212+107…

NM_001374809.1:c.-212+107838A>G

N/A Intron Variant
RGS7 transcript variant 14 NM_001374810.1:c.-212+107…

NM_001374810.1:c.-212+107838A>G

N/A Intron Variant
RGS7 transcript variant 16 NM_001374811.1:c.78+10783…

NM_001374811.1:c.78+107838A>G

N/A Intron Variant
RGS7 transcript variant 15 NM_001374812.1:c.78+10783…

NM_001374812.1:c.78+107838A>G

N/A Intron Variant
RGS7 transcript variant 17 NM_001374813.1:c.-212+107…

NM_001374813.1:c.-212+107838A>G

N/A Intron Variant
RGS7 transcript variant 18 NM_001374814.1:c.78+10783…

NM_001374814.1:c.78+107838A>G

N/A Intron Variant
RGS7 transcript variant 19 NM_001374815.1:c.78+10783…

NM_001374815.1:c.78+107838A>G

N/A Intron Variant
RGS7 transcript variant 20 NM_001374816.1:c.78+10783…

NM_001374816.1:c.78+107838A>G

N/A Intron Variant
RGS7 transcript variant 1 NM_002924.6:c.78+107838A>G N/A Intron Variant
RGS7 transcript variant X2 XM_017002009.2:c. N/A Genic Upstream Transcript Variant
RGS7 transcript variant X1 XM_047426980.1: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 T= C G
GRCh38.p14 chr 1 NC_000001.11:g.241247861= NC_000001.11:g.241247861T>C NC_000001.11:g.241247861T>G
GRCh37.p13 chr 1 NC_000001.10:g.241411161= NC_000001.10:g.241411161T>C NC_000001.10:g.241411161T>G
RGS7 transcript variant 2 NM_001282773.2:c.78+107838= NM_001282773.2:c.78+107838A>G NM_001282773.2:c.78+107838A>C
RGS7 transcript variant 3 NM_001282775.2:c.78+107838= NM_001282775.2:c.78+107838A>G NM_001282775.2:c.78+107838A>C
RGS7 transcript variant 4 NM_001282778.2:c.78+107838= NM_001282778.2:c.78+107838A>G NM_001282778.2:c.78+107838A>C
RGS7 transcript variant 5 NM_001350113.2:c.-1+106716= NM_001350113.2:c.-1+106716A>G NM_001350113.2:c.-1+106716A>C
RGS7 transcript variant 6 NM_001350114.2:c.-1+67703= NM_001350114.2:c.-1+67703A>G NM_001350114.2:c.-1+67703A>C
RGS7 transcript variant 7 NM_001350115.2:c.-1+106716= NM_001350115.2:c.-1+106716A>G NM_001350115.2:c.-1+106716A>C
RGS7 transcript variant 8 NM_001350116.1:c.-1+67703= NM_001350116.1:c.-1+67703A>G NM_001350116.1:c.-1+67703A>C
RGS7 transcript variant 9 NM_001364886.1:c.78+107838= NM_001364886.1:c.78+107838A>G NM_001364886.1:c.78+107838A>C
RGS7 transcript variant 10 NM_001374806.1:c.78+107838= NM_001374806.1:c.78+107838A>G NM_001374806.1:c.78+107838A>C
RGS7 transcript variant 11 NM_001374807.1:c.78+107838= NM_001374807.1:c.78+107838A>G NM_001374807.1:c.78+107838A>C
RGS7 transcript variant 12 NM_001374808.1:c.-147+107838= NM_001374808.1:c.-147+107838A>G NM_001374808.1:c.-147+107838A>C
RGS7 transcript variant 13 NM_001374809.1:c.-212+107838= NM_001374809.1:c.-212+107838A>G NM_001374809.1:c.-212+107838A>C
RGS7 transcript variant 14 NM_001374810.1:c.-212+107838= NM_001374810.1:c.-212+107838A>G NM_001374810.1:c.-212+107838A>C
RGS7 transcript variant 16 NM_001374811.1:c.78+107838= NM_001374811.1:c.78+107838A>G NM_001374811.1:c.78+107838A>C
RGS7 transcript variant 15 NM_001374812.1:c.78+107838= NM_001374812.1:c.78+107838A>G NM_001374812.1:c.78+107838A>C
RGS7 transcript variant 17 NM_001374813.1:c.-212+107838= NM_001374813.1:c.-212+107838A>G NM_001374813.1:c.-212+107838A>C
RGS7 transcript variant 18 NM_001374814.1:c.78+107838= NM_001374814.1:c.78+107838A>G NM_001374814.1:c.78+107838A>C
RGS7 transcript variant 19 NM_001374815.1:c.78+107838= NM_001374815.1:c.78+107838A>G NM_001374815.1:c.78+107838A>C
RGS7 transcript variant 20 NM_001374816.1:c.78+107838= NM_001374816.1:c.78+107838A>G NM_001374816.1:c.78+107838A>C
RGS7 transcript NM_002924.4:c.78+107838= NM_002924.4:c.78+107838A>G NM_002924.4:c.78+107838A>C
RGS7 transcript variant 1 NM_002924.6:c.78+107838= NM_002924.6:c.78+107838A>G NM_002924.6:c.78+107838A>C
RGS7 transcript variant X1 XM_005273218.1:c.78+107838= XM_005273218.1:c.78+107838A>G XM_005273218.1:c.78+107838A>C
RGS7 transcript variant X2 XM_005273219.1:c.78+107838= XM_005273219.1:c.78+107838A>G XM_005273219.1:c.78+107838A>C
RGS7 transcript variant X3 XM_005273220.1:c.78+107838= XM_005273220.1:c.78+107838A>G XM_005273220.1:c.78+107838A>C
RGS7 transcript variant X5 XM_005273222.1:c.78+107838= XM_005273222.1:c.78+107838A>G XM_005273222.1:c.78+107838A>C
RGS7 transcript variant X6 XM_005273223.1:c.78+107838= XM_005273223.1:c.78+107838A>G XM_005273223.1:c.78+107838A>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#.

94 SubSNP, 24 Frequency submissions
No Submitter Submission ID Date (Build)
1 SC_SNP ss13428098 Dec 05, 2003 (119)
2 ABI ss41061283 Mar 15, 2006 (126)
3 ILLUMINA ss66630683 Dec 01, 2006 (127)
4 ILLUMINA ss67939007 Dec 01, 2006 (127)
5 ILLUMINA ss68055789 Dec 01, 2006 (127)
6 ILLUMINA ss71620533 May 17, 2007 (127)
7 ILLUMINA ss75814213 Dec 06, 2007 (129)
8 AFFY ss76616289 Dec 06, 2007 (129)
9 ILLUMINA ss79302147 Dec 14, 2007 (130)
10 KRIBB_YJKIM ss84847236 Dec 14, 2007 (130)
11 ILLUMINA ss98280719 May 24, 2008 (130)
12 HUMANGENOME_JCVI ss99301862 Feb 04, 2009 (130)
13 BGI ss102838191 Dec 01, 2009 (131)
14 ILLUMINA ss123026408 Dec 01, 2009 (131)
15 ENSEMBL ss139015919 Dec 01, 2009 (131)
16 ILLUMINA ss154505397 Dec 01, 2009 (131)
17 ILLUMINA ss159679301 Dec 01, 2009 (131)
18 COMPLETE_GENOMICS ss165936067 Jul 04, 2010 (132)
19 COMPLETE_GENOMICS ss167582458 Jul 04, 2010 (132)
20 ILLUMINA ss172490242 Jul 04, 2010 (132)
21 ILLUMINA ss174882666 Jul 04, 2010 (132)
22 1000GENOMES ss218979279 Jul 14, 2010 (132)
23 1000GENOMES ss230975457 Jul 14, 2010 (132)
24 1000GENOMES ss238574994 Jul 15, 2010 (132)
25 GMI ss276289866 May 04, 2012 (137)
26 GMI ss284260927 Apr 25, 2013 (138)
27 PJP ss290771214 May 09, 2011 (134)
28 ILLUMINA ss482282999 May 04, 2012 (137)
29 ILLUMINA ss482971376 May 04, 2012 (137)
30 ILLUMINA ss534913296 Sep 08, 2015 (146)
31 TISHKOFF ss555255042 Apr 25, 2013 (138)
32 SSMP ss648829128 Apr 25, 2013 (138)
33 ILLUMINA ss780109990 Sep 08, 2015 (146)
34 ILLUMINA ss781938542 Sep 08, 2015 (146)
35 ILLUMINA ss825632665 Apr 01, 2015 (144)
36 ILLUMINA ss833190001 Aug 21, 2014 (142)
37 ILLUMINA ss833780829 Aug 21, 2014 (142)
38 ILLUMINA ss835592737 Sep 08, 2015 (146)
39 EVA-GONL ss976333214 Aug 21, 2014 (142)
40 JMKIDD_LAB ss1068744672 Aug 21, 2014 (142)
41 1000GENOMES ss1295344473 Aug 21, 2014 (142)
42 DDI ss1426168084 Apr 01, 2015 (144)
43 EVA_GENOME_DK ss1574800521 Apr 01, 2015 (144)
44 EVA_DECODE ss1585737477 Apr 01, 2015 (144)
45 EVA_UK10K_ALSPAC ss1602512776 Apr 01, 2015 (144)
46 EVA_UK10K_TWINSUK ss1645506809 Apr 01, 2015 (144)
47 EVA_SVP ss1712420111 Apr 01, 2015 (144)
48 WEILL_CORNELL_DGM ss1919555013 Feb 12, 2016 (147)
49 GENOMED ss1967018548 Jul 19, 2016 (147)
50 JJLAB ss2020305151 Sep 14, 2016 (149)
51 USC_VALOUEV ss2148343155 Dec 20, 2016 (150)
52 HUMAN_LONGEVITY ss2171515357 Dec 20, 2016 (150)
53 SYSTEMSBIOZJU ss2624665933 Nov 08, 2017 (151)
54 ILLUMINA ss2632653443 Nov 08, 2017 (151)
55 GRF ss2698346823 Nov 08, 2017 (151)
56 GNOMAD ss2768163845 Nov 08, 2017 (151)
57 SWEGEN ss2988740111 Nov 08, 2017 (151)
58 BIOINF_KMB_FNS_UNIBA ss3023915001 Nov 08, 2017 (151)
59 CSHL ss3343997346 Nov 08, 2017 (151)
60 ILLUMINA ss3626350658 Oct 11, 2018 (152)
61 ILLUMINA ss3630682122 Oct 11, 2018 (152)
62 ILLUMINA ss3637824929 Oct 11, 2018 (152)
63 ILLUMINA ss3638927646 Oct 11, 2018 (152)
64 ILLUMINA ss3639462943 Oct 11, 2018 (152)
65 ILLUMINA ss3641651035 Oct 11, 2018 (152)
66 ILLUMINA ss3642830363 Oct 11, 2018 (152)
67 URBANLAB ss3646927268 Oct 11, 2018 (152)
68 EGCUT_WGS ss3656701401 Jul 12, 2019 (153)
69 EVA_DECODE ss3688979929 Jul 12, 2019 (153)
70 ACPOP ss3728020627 Jul 12, 2019 (153)
71 EVA ss3747555740 Jul 12, 2019 (153)
72 KHV_HUMAN_GENOMES ss3800559398 Jul 12, 2019 (153)
73 EVA ss3826739106 Apr 25, 2020 (154)
74 HGDP ss3847369850 Apr 25, 2020 (154)
75 SGDP_PRJ ss3851266134 Apr 25, 2020 (154)
76 KRGDB ss3896626549 Apr 25, 2020 (154)
77 KOGIC ss3946849517 Apr 25, 2020 (154)
78 EVA ss3984863918 Apr 27, 2021 (155)
79 EVA ss4016972293 Apr 27, 2021 (155)
80 TOPMED ss4489557149 Apr 27, 2021 (155)
81 TOPMED ss4489557150 Apr 27, 2021 (155)
82 TOMMO_GENOMICS ss5149226045 Apr 27, 2021 (155)
83 1000G_HIGH_COVERAGE ss5246406328 Oct 17, 2022 (156)
84 EVA ss5314697632 Oct 17, 2022 (156)
85 HUGCELL_USP ss5446785577 Oct 17, 2022 (156)
86 EVA ss5506250152 Oct 17, 2022 (156)
87 1000G_HIGH_COVERAGE ss5520806650 Oct 17, 2022 (156)
88 SANFORD_IMAGENETICS ss5627797452 Oct 17, 2022 (156)
89 TOMMO_GENOMICS ss5677215793 Oct 17, 2022 (156)
90 YY_MCH ss5801797154 Oct 17, 2022 (156)
91 EVA ss5833511760 Oct 17, 2022 (156)
92 EVA ss5849366655 Oct 17, 2022 (156)
93 EVA ss5912674693 Oct 17, 2022 (156)
94 EVA ss5939647970 Oct 17, 2022 (156)
95 1000Genomes NC_000001.10 - 241411161 Oct 11, 2018 (152)
96 1000Genomes_30x NC_000001.11 - 241247861 Oct 17, 2022 (156)
97 The Avon Longitudinal Study of Parents and Children NC_000001.10 - 241411161 Oct 11, 2018 (152)
98 Chileans NC_000001.10 - 241411161 Apr 25, 2020 (154)
99 Genetic variation in the Estonian population NC_000001.10 - 241411161 Oct 11, 2018 (152)
100 The Danish reference pan genome NC_000001.10 - 241411161 Apr 25, 2020 (154)
101 gnomAD - Genomes NC_000001.11 - 241247861 Apr 27, 2021 (155)
102 Genome of the Netherlands Release 5 NC_000001.10 - 241411161 Apr 25, 2020 (154)
103 HGDP-CEPH-db Supplement 1 NC_000001.9 - 239477784 Apr 25, 2020 (154)
104 HapMap NC_000001.11 - 241247861 Apr 25, 2020 (154)
105 KOREAN population from KRGDB NC_000001.10 - 241411161 Apr 25, 2020 (154)
106 Korean Genome Project NC_000001.11 - 241247861 Apr 25, 2020 (154)
107 Northern Sweden NC_000001.10 - 241411161 Jul 12, 2019 (153)
108 Ancient Sardinia genome-wide 1240k capture data generation and analysis NC_000001.10 - 241411161 Apr 27, 2021 (155)
109 Qatari NC_000001.10 - 241411161 Apr 25, 2020 (154)
110 SGDP_PRJ NC_000001.10 - 241411161 Apr 25, 2020 (154)
111 Siberian NC_000001.10 - 241411161 Apr 25, 2020 (154)
112 8.3KJPN NC_000001.10 - 241411161 Apr 27, 2021 (155)
113 14KJPN NC_000001.11 - 241247861 Oct 17, 2022 (156)
114 TopMed

Submission ignored due to conflicting rows:
Row 53163484 (NC_000001.11:241247860:T:C 32725/264690)
Row 53163485 (NC_000001.11:241247860:T:G 1/264690)

- Apr 27, 2021 (155)
115 TopMed

Submission ignored due to conflicting rows:
Row 53163484 (NC_000001.11:241247860:T:C 32725/264690)
Row 53163485 (NC_000001.11:241247860:T:G 1/264690)

- Apr 27, 2021 (155)
116 UK 10K study - Twins NC_000001.10 - 241411161 Oct 11, 2018 (152)
117 A Vietnamese Genetic Variation Database NC_000001.10 - 241411161 Jul 12, 2019 (153)
118 ALFA NC_000001.11 - 241247861 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)
rs58014225 May 24, 2008 (130)
Added to this RefSNP Cluster:
Submission IDs Observation SPDI Canonical SPDI Source RSIDs
ss3638927646, ss3639462943 NC_000001.8:237737201:T:C NC_000001.11:241247860:T:C (self)
47742, ss76616289, ss165936067, ss167582458, ss276289866, ss284260927, ss290771214, ss482282999, ss825632665, ss1585737477, ss1712420111, ss3642830363, ss3847369850 NC_000001.9:239477783:T:C NC_000001.11:241247860:T:C (self)
6225115, 3449584, 38232, 2439649, 1961374, 1511240, 3803943, 1305492, 89845, 1596943, 3283114, 859509, 7195352, 3449584, 752388, ss218979279, ss230975457, ss238574994, ss482971376, ss534913296, ss555255042, ss648829128, ss780109990, ss781938542, ss833190001, ss833780829, ss835592737, ss976333214, ss1068744672, ss1295344473, ss1426168084, ss1574800521, ss1602512776, ss1645506809, ss1919555013, ss1967018548, ss2020305151, ss2148343155, ss2624665933, ss2632653443, ss2698346823, ss2768163845, ss2988740111, ss3343997346, ss3626350658, ss3630682122, ss3637824929, ss3641651035, ss3656701401, ss3728020627, ss3747555740, ss3826739106, ss3851266134, ss3896626549, ss3984863918, ss4016972293, ss5149226045, ss5314697632, ss5506250152, ss5627797452, ss5833511760, ss5939647970 NC_000001.10:241411160:T:C NC_000001.11:241247860:T:C (self)
8332585, 44536699, 306538, 3227518, 11052897, 14216159643, ss2171515357, ss3023915001, ss3646927268, ss3688979929, ss3800559398, ss3946849517, ss4489557149, ss5246406328, ss5446785577, ss5520806650, ss5677215793, ss5801797154, ss5849366655, ss5912674693 NC_000001.11:241247860:T:C NC_000001.11:241247860:T:C (self)
ss13428098 NT_004836.14:6154519:T:C NC_000001.11:241247860:T:C (self)
ss41061283, ss66630683, ss67939007, ss68055789, ss71620533, ss75814213, ss79302147, ss84847236, ss98280719, ss99301862, ss102838191, ss123026408, ss139015919, ss154505397, ss159679301, ss172490242, ss174882666 NT_167186.1:34928939:T:C NC_000001.11:241247860:T:C (self)
14216159643, ss4489557150 NC_000001.11:241247860:T:G NC_000001.11:241247860:T:G (self)
Help

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

No publications for rs9645344

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