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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.

rs7910400

Current Build 155

Released April 9, 2021

Organism
Homo sapiens
Position
chr10:6268213 (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
C>T
Variation Type
SNV Single Nucleotide Variation
Frequency
T=0.439023 (116205/264690, TOPMED)
T=0.461401 (64538/139874, GnomAD)
C=0.45366 (43834/96622, ALFA) (+ 19 more)
T=0.17518 (2936/16760, 8.3KJPN)
T=0.3195 (1600/5008, 1000G)
C=0.3980 (1783/4480, Estonian)
C=0.3921 (1511/3854, ALSPAC)
C=0.3948 (1464/3708, TWINSUK)
T=0.1611 (472/2930, KOREAN)
T=0.3412 (711/2084, HGDP_Stanford)
T=0.3044 (576/1892, HapMap)
T=0.1889 (346/1832, Korea1K)
T=0.4418 (501/1134, Daghestan)
C=0.375 (374/998, GoNL)
T=0.374 (234/626, Chileans)
C=0.363 (218/600, NorthernSweden)
C=0.378 (109/288, SGDP_PRJ)
T=0.421 (91/216, Qatari)
T=0.154 (33/214, Vietnamese)
C=0.32 (18/56, Ancient Sardinia)
C=0.40 (16/40, GENOME_DK)
C=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.6268213C>T
GRCh37.p13 chr 10 NC_000010.10:g.6310176C>T
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 96622 C=0.45366 T=0.54634
European Sub 76228 C=0.40193 T=0.59807
African Sub 8008 C=0.7260 T=0.2740
African Others Sub 276 C=0.808 T=0.192
African American Sub 7732 C=0.7231 T=0.2769
Asian Sub 250 C=0.884 T=0.116
East Asian Sub 176 C=0.892 T=0.108
Other Asian Sub 74 C=0.86 T=0.14
Latin American 1 Sub 410 C=0.568 T=0.432
Latin American 2 Sub 3458 C=0.6374 T=0.3626
South Asian Sub 4982 C=0.5951 T=0.4049
Other Sub 3286 C=0.5353 T=0.4647


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 C=0.560977 T=0.439023
gnomAD - Genomes Global Study-wide 139874 C=0.538599 T=0.461401
gnomAD - Genomes European Sub 75796 C=0.40840 T=0.59160
gnomAD - Genomes African Sub 41878 C=0.72630 T=0.27370
gnomAD - Genomes American Sub 13614 C=0.61554 T=0.38446
gnomAD - Genomes Ashkenazi Jewish Sub 3318 C=0.5422 T=0.4578
gnomAD - Genomes East Asian Sub 3118 C=0.8278 T=0.1722
gnomAD - Genomes Other Sub 2150 C=0.5605 T=0.4395
8.3KJPN JAPANESE Study-wide 16760 C=0.82482 T=0.17518
1000Genomes Global Study-wide 5008 C=0.6805 T=0.3195
1000Genomes African Sub 1322 C=0.7784 T=0.2216
1000Genomes East Asian Sub 1008 C=0.8383 T=0.1617
1000Genomes Europe Sub 1006 C=0.4344 T=0.5656
1000Genomes South Asian Sub 978 C=0.658 T=0.342
1000Genomes American Sub 694 C=0.653 T=0.347
Genetic variation in the Estonian population Estonian Study-wide 4480 C=0.3980 T=0.6020
The Avon Longitudinal Study of Parents and Children PARENT AND CHILD COHORT Study-wide 3854 C=0.3921 T=0.6079
UK 10K study - Twins TWIN COHORT Study-wide 3708 C=0.3948 T=0.6052
KOREAN population from KRGDB KOREAN Study-wide 2930 C=0.8389 T=0.1611
HGDP-CEPH-db Supplement 1 Global Study-wide 2084 C=0.6588 T=0.3412
HGDP-CEPH-db Supplement 1 Est_Asia Sub 470 C=0.813 T=0.187
HGDP-CEPH-db Supplement 1 Central_South_Asia Sub 414 C=0.592 T=0.408
HGDP-CEPH-db Supplement 1 Middle_Est Sub 350 C=0.511 T=0.489
HGDP-CEPH-db Supplement 1 Europe Sub 320 C=0.378 T=0.622
HGDP-CEPH-db Supplement 1 Africa Sub 242 C=0.798 T=0.202
HGDP-CEPH-db Supplement 1 America Sub 216 C=0.921 T=0.079
HGDP-CEPH-db Supplement 1 Oceania Sub 72 C=0.75 T=0.25
HapMap Global Study-wide 1892 C=0.6956 T=0.3044
HapMap American Sub 770 C=0.625 T=0.375
HapMap African Sub 692 C=0.772 T=0.228
HapMap Asian Sub 254 C=0.854 T=0.146
HapMap Europe Sub 176 C=0.477 T=0.523
Korean Genome Project KOREAN Study-wide 1832 C=0.8111 T=0.1889
Genome-wide autozygosity in Daghestan Global Study-wide 1134 C=0.5582 T=0.4418
Genome-wide autozygosity in Daghestan Daghestan Sub 626 C=0.573 T=0.427
Genome-wide autozygosity in Daghestan Near_East Sub 144 C=0.528 T=0.472
Genome-wide autozygosity in Daghestan Central Asia Sub 122 C=0.623 T=0.377
Genome-wide autozygosity in Daghestan Europe Sub 108 C=0.361 T=0.639
Genome-wide autozygosity in Daghestan South Asian Sub 98 C=0.67 T=0.33
Genome-wide autozygosity in Daghestan Caucasus Sub 36 C=0.47 T=0.53
Genome of the Netherlands Release 5 Genome of the Netherlands Study-wide 998 C=0.375 T=0.625
Chileans Chilean Study-wide 626 C=0.626 T=0.374
Northern Sweden ACPOP Study-wide 600 C=0.363 T=0.637
SGDP_PRJ Global Study-wide 288 C=0.378 T=0.622
Qatari Global Study-wide 216 C=0.579 T=0.421
A Vietnamese Genetic Variation Database Global Study-wide 214 C=0.846 T=0.154
Ancient Sardinia genome-wide 1240k capture data generation and analysis Global Study-wide 56 C=0.32 T=0.68
The Danish reference pan genome Danish Study-wide 40 C=0.40 T=0.60
Siberian Global Study-wide 40 C=0.28 T=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 C= T
GRCh38.p13 chr 10 NC_000010.11:g.6268213= NC_000010.11:g.6268213C>T
GRCh37.p13 chr 10 NC_000010.10:g.6310176= NC_000010.10:g.6310176C>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#.

96 SubSNP, 22 Frequency submissions
No Submitter Submission ID Date (Build)
1 WI_SSAHASNP ss12091643 Jul 11, 2003 (116)
2 SC_SNP ss15892246 Feb 27, 2004 (120)
3 CSHL-HAPMAP ss16499850 Feb 27, 2004 (120)
4 AFFY ss66245119 Dec 01, 2006 (127)
5 ILLUMINA ss67846688 Dec 01, 2006 (127)
6 ILLUMINA ss68001120 Dec 01, 2006 (127)
7 ILLUMINA ss68289990 Dec 12, 2006 (127)
8 PERLEGEN ss69068737 May 17, 2007 (127)
9 ILLUMINA ss70957878 May 23, 2008 (130)
10 ILLUMINA ss71565678 May 17, 2007 (127)
11 ILLUMINA ss75624945 Dec 06, 2007 (129)
12 AFFY ss76390707 Dec 06, 2007 (129)
13 KRIBB_YJKIM ss84749063 Dec 14, 2007 (130)
14 BCMHGSC_JDW ss88080924 Mar 23, 2008 (129)
15 BGI ss102850381 Dec 01, 2009 (131)
16 ENSEMBL ss131661829 Dec 01, 2009 (131)
17 ILLUMINA ss154455775 Dec 01, 2009 (131)
18 GMI ss154522736 Dec 01, 2009 (131)
19 ILLUMINA ss159630419 Dec 01, 2009 (131)
20 COMPLETE_GENOMICS ss170369342 Jul 04, 2010 (132)
21 AFFY ss173454760 Jul 04, 2010 (132)
22 ILLUMINA ss174613889 Jul 04, 2010 (132)
23 BUSHMAN ss201097483 Jul 04, 2010 (132)
24 BCM-HGSC-SUB ss207002720 Jul 04, 2010 (132)
25 1000GENOMES ss210752715 Jul 14, 2010 (132)
26 1000GENOMES ss224544540 Jul 14, 2010 (132)
27 1000GENOMES ss235038071 Jul 15, 2010 (132)
28 1000GENOMES ss241773886 Jul 15, 2010 (132)
29 BL ss254025804 May 09, 2011 (134)
30 GMI ss280464753 May 04, 2012 (137)
31 GMI ss286122480 Apr 25, 2013 (138)
32 PJP ss290900160 May 09, 2011 (134)
33 ILLUMINA ss479758508 May 04, 2012 (137)
34 ILLUMINA ss482626832 May 04, 2012 (137)
35 ILLUMINA ss533255546 Sep 08, 2015 (146)
36 TISHKOFF ss561745399 Apr 25, 2013 (138)
37 SSMP ss656251626 Apr 25, 2013 (138)
38 ILLUMINA ss779646383 Sep 08, 2015 (146)
39 ILLUMINA ss781061315 Sep 08, 2015 (146)
40 ILLUMINA ss833141307 Jul 13, 2019 (153)
41 ILLUMINA ss835119325 Sep 08, 2015 (146)
42 EVA-GONL ss987157299 Aug 21, 2014 (142)
43 JMKIDD_LAB ss1076731699 Aug 21, 2014 (142)
44 1000GENOMES ss1336130085 Aug 21, 2014 (142)
45 HAMMER_LAB ss1397571512 Sep 08, 2015 (146)
46 DDI ss1426208835 Apr 01, 2015 (144)
47 EVA_GENOME_DK ss1574889244 Apr 01, 2015 (144)
48 EVA_DECODE ss1596805263 Apr 01, 2015 (144)
49 EVA_UK10K_ALSPAC ss1623911748 Apr 01, 2015 (144)
50 EVA_UK10K_TWINSUK ss1666905781 Apr 01, 2015 (144)
51 EVA_SVP ss1713154101 Apr 01, 2015 (144)
52 HAMMER_LAB ss1806238296 Sep 08, 2015 (146)
53 WEILL_CORNELL_DGM ss1930478230 Feb 12, 2016 (147)
54 GENOMED ss1967049544 Jul 19, 2016 (147)
55 JJLAB ss2025962242 Sep 14, 2016 (149)
56 USC_VALOUEV ss2154204284 Dec 20, 2016 (150)
57 HUMAN_LONGEVITY ss2172358406 Dec 20, 2016 (150)
58 TOPMED ss2335067521 Dec 20, 2016 (150)
59 SYSTEMSBIOZJU ss2627450025 Nov 08, 2017 (151)
60 ILLUMINA ss2632669806 Nov 08, 2017 (151)
61 GRF ss2698428192 Nov 08, 2017 (151)
62 GNOMAD ss2885105086 Nov 08, 2017 (151)
63 AFFY ss2984904475 Nov 08, 2017 (151)
64 AFFY ss2985550200 Nov 08, 2017 (151)
65 SWEGEN ss3005875606 Nov 08, 2017 (151)
66 BIOINF_KMB_FNS_UNIBA ss3026764638 Nov 08, 2017 (151)
67 TOPMED ss3110663843 Nov 08, 2017 (151)
68 CSHL ss3348941941 Nov 08, 2017 (151)
69 ILLUMINA ss3626378174 Oct 12, 2018 (152)
70 ILLUMINA ss3630697714 Oct 12, 2018 (152)
71 ILLUMINA ss3637831847 Oct 12, 2018 (152)
72 ILLUMINA ss3638931202 Oct 12, 2018 (152)
73 ILLUMINA ss3639777142 Oct 12, 2018 (152)
74 ILLUMINA ss3641659102 Oct 12, 2018 (152)
75 ILLUMINA ss3642836742 Oct 12, 2018 (152)
76 ILLUMINA ss3643830100 Oct 12, 2018 (152)
77 ILLUMINA ss3653674139 Oct 12, 2018 (152)
78 EGCUT_WGS ss3673402714 Jul 13, 2019 (153)
79 EVA_DECODE ss3689206531 Jul 13, 2019 (153)
80 ACPOP ss3737026911 Jul 13, 2019 (153)
81 EVA ss3747699641 Jul 13, 2019 (153)
82 PACBIO ss3786570194 Jul 13, 2019 (153)
83 PACBIO ss3791764085 Jul 13, 2019 (153)
84 PACBIO ss3796645865 Jul 13, 2019 (153)
85 KHV_HUMAN_GENOMES ss3813062617 Jul 13, 2019 (153)
86 EVA ss3831947018 Apr 26, 2020 (154)
87 EVA ss3839504346 Apr 26, 2020 (154)
88 EVA ss3844970328 Apr 26, 2020 (154)
89 HGDP ss3847374083 Apr 26, 2020 (154)
90 SGDP_PRJ ss3873453471 Apr 26, 2020 (154)
91 KRGDB ss3921388927 Apr 26, 2020 (154)
92 KOGIC ss3967131343 Apr 26, 2020 (154)
93 EVA ss3985455312 Apr 26, 2021 (155)
94 EVA ss4017468487 Apr 26, 2021 (155)
95 TOPMED ss4841242663 Apr 26, 2021 (155)
96 TOMMO_GENOMICS ss5196096795 Apr 26, 2021 (155)
97 1000Genomes NC_000010.10 - 6310176 Oct 12, 2018 (152)
98 The Avon Longitudinal Study of Parents and Children NC_000010.10 - 6310176 Oct 12, 2018 (152)
99 Chileans NC_000010.10 - 6310176 Apr 26, 2020 (154)
100 Genome-wide autozygosity in Daghestan NC_000010.9 - 6350182 Apr 26, 2020 (154)
101 Genetic variation in the Estonian population NC_000010.10 - 6310176 Oct 12, 2018 (152)
102 The Danish reference pan genome NC_000010.10 - 6310176 Apr 26, 2020 (154)
103 gnomAD - Genomes NC_000010.11 - 6268213 Apr 26, 2021 (155)
104 Genome of the Netherlands Release 5 NC_000010.10 - 6310176 Apr 26, 2020 (154)
105 HGDP-CEPH-db Supplement 1 NC_000010.9 - 6350182 Apr 26, 2020 (154)
106 HapMap NC_000010.11 - 6268213 Apr 26, 2020 (154)
107 KOREAN population from KRGDB NC_000010.10 - 6310176 Apr 26, 2020 (154)
108 Korean Genome Project NC_000010.11 - 6268213 Apr 26, 2020 (154)
109 Northern Sweden NC_000010.10 - 6310176 Jul 13, 2019 (153)
110 Ancient Sardinia genome-wide 1240k capture data generation and analysis NC_000010.10 - 6310176 Apr 26, 2021 (155)
111 Qatari NC_000010.10 - 6310176 Apr 26, 2020 (154)
112 SGDP_PRJ NC_000010.10 - 6310176 Apr 26, 2020 (154)
113 Siberian NC_000010.10 - 6310176 Apr 26, 2020 (154)
114 8.3KJPN NC_000010.10 - 6310176 Apr 26, 2021 (155)
115 TopMed NC_000010.11 - 6268213 Apr 26, 2021 (155)
116 UK 10K study - Twins NC_000010.10 - 6310176 Oct 12, 2018 (152)
117 A Vietnamese Genetic Variation Database NC_000010.10 - 6310176 Jul 13, 2019 (153)
118 ALFA NC_000010.11 - 6268213 Apr 26, 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)
rs56975118 May 23, 2008 (130)
Added to this RefSNP Cluster:
Submission IDs Observation SPDI Canonical SPDI Source RSIDs
ss3638931202, ss3639777142, ss3643830100 NC_000010.8:6350181:C:T NC_000010.11:6268212:C:T (self)
43121, 51975, ss66245119, ss76390707, ss88080924, ss170369342, ss173454760, ss201097483, ss207002720, ss210752715, ss254025804, ss280464753, ss286122480, ss290900160, ss482626832, ss1397571512, ss1596805263, ss1713154101, ss3642836742, ss3847374083 NC_000010.9:6350181:C:T NC_000010.11:6268212:C:T (self)
48471395, 26932147, 41151, 19140962, 2014448, 12012188, 28566321, 10311776, 681239, 12520160, 25470451, 6720638, 54066102, 26932147, 5978572, ss224544540, ss235038071, ss241773886, ss479758508, ss533255546, ss561745399, ss656251626, ss779646383, ss781061315, ss833141307, ss835119325, ss987157299, ss1076731699, ss1336130085, ss1426208835, ss1574889244, ss1623911748, ss1666905781, ss1806238296, ss1930478230, ss1967049544, ss2025962242, ss2154204284, ss2335067521, ss2627450025, ss2632669806, ss2698428192, ss2885105086, ss2984904475, ss2985550200, ss3005875606, ss3348941941, ss3626378174, ss3630697714, ss3637831847, ss3641659102, ss3653674139, ss3673402714, ss3737026911, ss3747699641, ss3786570194, ss3791764085, ss3796645865, ss3831947018, ss3839504346, ss3873453471, ss3921388927, ss3985455312, ss4017468487, ss5196096795 NC_000010.10:6310175:C:T NC_000010.11:6268212:C:T (self)
342415595, 330062, 23509344, 35683589, 56788318, 13442909823, ss2172358406, ss3026764638, ss3110663843, ss3689206531, ss3813062617, ss3844970328, ss3967131343, ss4841242663 NC_000010.11:6268212:C:T NC_000010.11:6268212:C:T (self)
ss67846688, ss68001120, ss68289990, ss69068737, ss70957878, ss71565678, ss75624945, ss84749063, ss102850381, ss131661829, ss154455775, ss154522736, ss159630419, ss174613889 NT_008705.16:6250175:C:T NC_000010.11:6268212:C:T (self)
ss12091643, ss15892246, ss16499850 NT_077569.2:673071:C:T NC_000010.11:6268212:C:T (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 rs7910400

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