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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.

rs9414747

Current Build 155

Released April 9, 2021

Organism
Homo sapiens
Position
chr10:60762637 (GRCh38.p13) 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>A / T>C / T>G
Variation Type
SNV Single Nucleotide Variation
Frequency
T=0.464702 (123002/264690, TOPMED)
T=0.456008 (63822/139958, GnomAD)
T=0.47169 (37122/78700, PAGE_STUDY) (+ 15 more)
T=0.46171 (18777/40668, ALFA)
C=0.49248 (8254/16760, 8.3KJPN)
T=0.4692 (2350/5008, 1000G)
T=0.4321 (1936/4480, Estonian)
T=0.4730 (1823/3854, ALSPAC)
T=0.4657 (1727/3708, TWINSUK)
T=0.3918 (1148/2930, KOREAN)
T=0.4903 (557/1136, Daghestan)
T=0.445 (444/998, GoNL)
T=0.405 (243/600, NorthernSweden)
T=0.316 (125/396, SGDP_PRJ)
T=0.454 (98/216, Qatari)
T=0.343 (74/216, Vietnamese)
T=0.45 (18/40, GENOME_DK)
T=0.28 (11/40, Siberian)
Clinical Significance
Not Reported in ClinVar
Gene : Consequence
None
Publications
0 citations
Genomic View
See rs on genome
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.p13 chr 10 NC_000010.11:g.60762637T>A
GRCh38.p13 chr 10 NC_000010.11:g.60762637T>C
GRCh38.p13 chr 10 NC_000010.11:g.60762637T>G
GRCh37.p13 chr 10 NC_000010.10:g.62522395T>A
GRCh37.p13 chr 10 NC_000010.10:g.62522395T>C
GRCh37.p13 chr 10 NC_000010.10:g.62522395T>G
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

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: 20201027095038
Population Group Sample Size Ref Allele Alt Allele
Total Global 40668 T=0.46171 C=0.53829
European Sub 31004 T=0.46246 C=0.53754
African Sub 6238 T=0.4351 C=0.5649
African Others Sub 208 T=0.365 C=0.635
African American Sub 6030 T=0.4375 C=0.5625
Asian Sub 164 T=0.311 C=0.689
East Asian Sub 136 T=0.316 C=0.684
Other Asian Sub 28 T=0.29 C=0.71
Latin American 1 Sub 168 T=0.506 C=0.494
Latin American 2 Sub 700 T=0.581 C=0.419
South Asian Sub 122 T=0.590 C=0.410
Other Sub 2272 T=0.4886 C=0.5114


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 T=0.464702 C=0.535298
gnomAD - Genomes Global Study-wide 139958 T=0.456008 C=0.543992
gnomAD - Genomes European Sub 75816 T=0.45691 C=0.54309
gnomAD - Genomes African Sub 41920 T=0.43104 C=0.56896
gnomAD - Genomes American Sub 13636 T=0.52779 C=0.47221
gnomAD - Genomes Ashkenazi Jewish Sub 3318 T=0.5316 C=0.4684
gnomAD - Genomes East Asian Sub 3122 T=0.3642 C=0.6358
gnomAD - Genomes Other Sub 2146 T=0.4725 C=0.5275
The PAGE Study Global Study-wide 78700 T=0.47169 C=0.52831
The PAGE Study AfricanAmerican Sub 32516 T=0.42721 C=0.57279
The PAGE Study Mexican Sub 10810 T=0.59121 C=0.40879
The PAGE Study Asian Sub 8318 T=0.4739 C=0.5261
The PAGE Study PuertoRican Sub 7916 T=0.5011 C=0.4989
The PAGE Study NativeHawaiian Sub 4534 T=0.3330 C=0.6670
The PAGE Study Cuban Sub 4230 T=0.4712 C=0.5288
The PAGE Study Dominican Sub 3828 T=0.4632 C=0.5368
The PAGE Study CentralAmerican Sub 2450 T=0.5845 C=0.4155
The PAGE Study SouthAmerican Sub 1982 T=0.5600 C=0.4400
The PAGE Study NativeAmerican Sub 1260 T=0.5095 C=0.4905
The PAGE Study SouthAsian Sub 856 T=0.550 C=0.450
8.3KJPN JAPANESE Study-wide 16760 T=0.50752 C=0.49248
1000Genomes Global Study-wide 5008 T=0.4692 C=0.5308
1000Genomes African Sub 1322 T=0.4138 C=0.5862
1000Genomes East Asian Sub 1008 T=0.3929 C=0.6071
1000Genomes Europe Sub 1006 T=0.4642 C=0.5358
1000Genomes South Asian Sub 978 T=0.547 C=0.453
1000Genomes American Sub 694 T=0.584 C=0.416
Genetic variation in the Estonian population Estonian Study-wide 4480 T=0.4321 C=0.5679
The Avon Longitudinal Study of Parents and Children PARENT AND CHILD COHORT Study-wide 3854 T=0.4730 C=0.5270
UK 10K study - Twins TWIN COHORT Study-wide 3708 T=0.4657 C=0.5343
KOREAN population from KRGDB KOREAN Study-wide 2930 T=0.3918 A=0.0000, C=0.6082, G=0.0000
Genome-wide autozygosity in Daghestan Global Study-wide 1136 T=0.4903 C=0.5097
Genome-wide autozygosity in Daghestan Daghestan Sub 628 T=0.500 C=0.500
Genome-wide autozygosity in Daghestan Near_East Sub 144 T=0.493 C=0.507
Genome-wide autozygosity in Daghestan Central Asia Sub 122 T=0.443 C=0.557
Genome-wide autozygosity in Daghestan Europe Sub 108 T=0.426 C=0.574
Genome-wide autozygosity in Daghestan South Asian Sub 98 T=0.54 C=0.46
Genome-wide autozygosity in Daghestan Caucasus Sub 36 T=0.53 C=0.47
Genome of the Netherlands Release 5 Genome of the Netherlands Study-wide 998 T=0.445 C=0.555
Northern Sweden ACPOP Study-wide 600 T=0.405 C=0.595
SGDP_PRJ Global Study-wide 396 T=0.316 C=0.684
Qatari Global Study-wide 216 T=0.454 C=0.546
A Vietnamese Genetic Variation Database Global Study-wide 216 T=0.343 C=0.657
The Danish reference pan genome Danish Study-wide 40 T=0.45 C=0.55
Siberian Global Study-wide 40 T=0.28 C=0.72
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= A C G
GRCh38.p13 chr 10 NC_000010.11:g.60762637= NC_000010.11:g.60762637T>A NC_000010.11:g.60762637T>C NC_000010.11:g.60762637T>G
GRCh37.p13 chr 10 NC_000010.10:g.62522395= NC_000010.10:g.62522395T>A NC_000010.10:g.62522395T>C NC_000010.10:g.62522395T>G
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#.

78 SubSNP, 18 Frequency submissions
No Submitter Submission ID Date (Build)
1 SC_SNP ss12953984 Dec 05, 2003 (119)
2 SC_SNP ss16048444 Feb 27, 2004 (120)
3 HGSV ss80443783 Dec 15, 2007 (130)
4 HGSV ss84734517 Dec 15, 2007 (130)
5 HGSV ss85954168 Dec 15, 2007 (130)
6 BGI ss102883643 Dec 01, 2009 (131)
7 1000GENOMES ss109490925 Jan 24, 2009 (130)
8 1000GENOMES ss113347770 Jan 25, 2009 (130)
9 ILLUMINA-UK ss119190179 Feb 15, 2009 (130)
10 GMI ss155112345 Dec 01, 2009 (131)
11 COMPLETE_GENOMICS ss168447742 Jul 04, 2010 (132)
12 COMPLETE_GENOMICS ss170176008 Jul 04, 2010 (132)
13 COMPLETE_GENOMICS ss174575010 Jul 04, 2010 (132)
14 BUSHMAN ss201594560 Jul 04, 2010 (132)
15 BCM-HGSC-SUB ss207327446 Jul 04, 2010 (132)
16 1000GENOMES ss224758346 Jul 14, 2010 (132)
17 1000GENOMES ss235199340 Jul 15, 2010 (132)
18 1000GENOMES ss241900574 Jul 15, 2010 (132)
19 BL ss254360600 May 09, 2011 (134)
20 GMI ss280640463 May 04, 2012 (137)
21 ILLUMINA ss482624030 May 04, 2012 (137)
22 ILLUMINA ss484199106 May 04, 2012 (137)
23 ILLUMINA ss536386735 Sep 08, 2015 (146)
24 TISHKOFF ss561993031 Apr 25, 2013 (138)
25 SSMP ss656817862 Apr 25, 2013 (138)
26 ILLUMINA ss780665772 Sep 08, 2015 (146)
27 ILLUMINA ss782545496 Sep 08, 2015 (146)
28 ILLUMINA ss836161496 Sep 08, 2015 (146)
29 EVA-GONL ss987549804 Aug 21, 2014 (142)
30 JMKIDD_LAB ss1077032294 Aug 21, 2014 (142)
31 1000GENOMES ss1337667654 Aug 21, 2014 (142)
32 HAMMER_LAB ss1397583130 Sep 08, 2015 (146)
33 DDI ss1426339588 Apr 01, 2015 (144)
34 EVA_GENOME_DK ss1575154266 Apr 01, 2015 (144)
35 EVA_DECODE ss1597216262 Apr 01, 2015 (144)
36 EVA_UK10K_ALSPAC ss1624686811 Apr 01, 2015 (144)
37 EVA_UK10K_TWINSUK ss1667680844 Apr 01, 2015 (144)
38 HAMMER_LAB ss1806415986 Sep 08, 2015 (146)
39 WEILL_CORNELL_DGM ss1930913747 Feb 12, 2016 (147)
40 ILLUMINA ss1959266811 Feb 12, 2016 (147)
41 GENOMED ss1967142983 Jul 19, 2016 (147)
42 JJLAB ss2026180125 Sep 14, 2016 (149)
43 USC_VALOUEV ss2154453272 Dec 20, 2016 (150)
44 HUMAN_LONGEVITY ss2175217201 Dec 20, 2016 (150)
45 TOPMED ss2338249596 Dec 20, 2016 (150)
46 SYSTEMSBIOZJU ss2627560431 Nov 08, 2017 (151)
47 ILLUMINA ss2632717857 Nov 08, 2017 (151)
48 GRF ss2698697391 Nov 08, 2017 (151)
49 GNOMAD ss2889429834 Nov 08, 2017 (151)
50 AFFY ss2984913307 Nov 08, 2017 (151)
51 AFFY ss2985558287 Nov 08, 2017 (151)
52 SWEGEN ss3006572864 Nov 08, 2017 (151)
53 ILLUMINA ss3021244549 Nov 08, 2017 (151)
54 BIOINF_KMB_FNS_UNIBA ss3026881230 Nov 08, 2017 (151)
55 TOPMED ss3121335262 Nov 08, 2017 (151)
56 CSHL ss3349150324 Nov 08, 2017 (151)
57 ILLUMINA ss3626457998 Oct 12, 2018 (152)
58 ILLUMINA ss3630743295 Oct 12, 2018 (152)
59 ILLUMINA ss3641680842 Oct 12, 2018 (152)
60 ILLUMINA ss3651599716 Oct 12, 2018 (152)
61 ILLUMINA ss3653683889 Oct 12, 2018 (152)
62 EGCUT_WGS ss3673985330 Jul 13, 2019 (153)
63 EVA_DECODE ss3689992618 Jul 13, 2019 (153)
64 ILLUMINA ss3725161211 Jul 13, 2019 (153)
65 ACPOP ss3737373053 Jul 13, 2019 (153)
66 EVA ss3748171821 Jul 13, 2019 (153)
67 PAGE_CC ss3771560907 Jul 13, 2019 (153)
68 PACBIO ss3786689004 Jul 13, 2019 (153)
69 PACBIO ss3791867504 Jul 13, 2019 (153)
70 PACBIO ss3796749522 Jul 13, 2019 (153)
71 KHV_HUMAN_GENOMES ss3813547483 Jul 13, 2019 (153)
72 EVA ss3832155582 Apr 26, 2020 (154)
73 EVA ss3839617292 Apr 26, 2020 (154)
74 EVA ss3845089530 Apr 26, 2020 (154)
75 SGDP_PRJ ss3874329606 Apr 26, 2020 (154)
76 KRGDB ss3922399619 Apr 26, 2020 (154)
77 TOPMED ss4854403636 Apr 27, 2021 (155)
78 TOMMO_GENOMICS ss5197891183 Apr 27, 2021 (155)
79 1000Genomes NC_000010.10 - 62522395 Oct 12, 2018 (152)
80 The Avon Longitudinal Study of Parents and Children NC_000010.10 - 62522395 Oct 12, 2018 (152)
81 Genome-wide autozygosity in Daghestan NC_000010.9 - 62192401 Apr 26, 2020 (154)
82 Genetic variation in the Estonian population NC_000010.10 - 62522395 Oct 12, 2018 (152)
83 The Danish reference pan genome NC_000010.10 - 62522395 Apr 26, 2020 (154)
84 gnomAD - Genomes NC_000010.11 - 60762637 Apr 27, 2021 (155)
85 Genome of the Netherlands Release 5 NC_000010.10 - 62522395 Apr 26, 2020 (154)
86 KOREAN population from KRGDB NC_000010.10 - 62522395 Apr 26, 2020 (154)
87 Northern Sweden NC_000010.10 - 62522395 Jul 13, 2019 (153)
88 The PAGE Study NC_000010.11 - 60762637 Jul 13, 2019 (153)
89 Qatari NC_000010.10 - 62522395 Apr 26, 2020 (154)
90 SGDP_PRJ NC_000010.10 - 62522395 Apr 26, 2020 (154)
91 Siberian NC_000010.10 - 62522395 Apr 26, 2020 (154)
92 8.3KJPN NC_000010.10 - 62522395 Apr 27, 2021 (155)
93 TopMed NC_000010.11 - 60762637 Apr 27, 2021 (155)
94 UK 10K study - Twins NC_000010.10 - 62522395 Oct 12, 2018 (152)
95 A Vietnamese Genetic Variation Database NC_000010.10 - 62522395 Jul 13, 2019 (153)
96 ALFA NC_000010.11 - 60762637 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)
rs60930155 May 26, 2008 (130)
Added to this RefSNP Cluster:
Submission IDs Observation SPDI Canonical SPDI Source RSIDs
29577013, ss3922399619 NC_000010.10:62522394:T:A NC_000010.11:60762636:T:A (self)
ss80443783, ss84734517, ss85954168 NC_000010.8:62192400:T:C NC_000010.11:60762636:T:C (self)
54626, ss109490925, ss113347770, ss119190179, ss168447742, ss170176008, ss174575010, ss201594560, ss207327446, ss254360600, ss280640463, ss482624030, ss1397583130, ss1597216262 NC_000010.9:62192400:T:C NC_000010.11:60762636:T:C (self)
50063999, 27786072, 19723578, 2181639, 12392214, 29577013, 10657918, 12955677, 26346586, 6969626, 55860490, 27786072, 6171187, ss224758346, ss235199340, ss241900574, ss484199106, ss536386735, ss561993031, ss656817862, ss780665772, ss782545496, ss836161496, ss987549804, ss1077032294, ss1337667654, ss1426339588, ss1575154266, ss1624686811, ss1667680844, ss1806415986, ss1930913747, ss1959266811, ss1967142983, ss2026180125, ss2154453272, ss2338249596, ss2627560431, ss2632717857, ss2698697391, ss2889429834, ss2984913307, ss2985558287, ss3006572864, ss3021244549, ss3349150324, ss3626457998, ss3630743295, ss3641680842, ss3651599716, ss3653683889, ss3673985330, ss3737373053, ss3748171821, ss3786689004, ss3791867504, ss3796749522, ss3832155582, ss3839617292, ss3874329606, ss3922399619, ss5197891183 NC_000010.10:62522394:T:C NC_000010.11:60762636:T:C (self)
353870214, 782376, 43950615, 69949291, 7864858567, ss2175217201, ss3026881230, ss3121335262, ss3689992618, ss3725161211, ss3771560907, ss3813547483, ss3845089530, ss4854403636 NC_000010.11:60762636:T:C NC_000010.11:60762636:T:C (self)
ss12953984 NT_008583.15:11073542:T:C NC_000010.11:60762636:T:C (self)
ss16048444 NT_008583.16:11073549:T:C NC_000010.11:60762636:T:C (self)
ss102883643, ss155112345 NT_030059.13:13326858:T:C NC_000010.11:60762636:T:C (self)
29577013, ss3922399619 NC_000010.10:62522394:T:G NC_000010.11:60762636: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 rs9414747

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.post596+ae089ad