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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.

rs10795949

Current Build 155

Released April 9, 2021

Organism
Homo sapiens
Position
chr10:6267212 (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
A>C / A>G
Variation Type
SNV Single Nucleotide Variation
Frequency
A=0.442049 (117006/264690, TOPMED)
A=0.365799 (90593/247658, ALFA)
A=0.434503 (60860/140068, GnomAD) (+ 19 more)
C=0.48025 (37794/78696, PAGE_STUDY)
C=0.37100 (6218/16760, 8.3KJPN)
A=0.4956 (2482/5008, 1000G)
A=0.3567 (1598/4480, Estonian)
A=0.3428 (1321/3854, ALSPAC)
A=0.3498 (1297/3708, TWINSUK)
C=0.3567 (1045/2930, KOREAN)
A=0.4679 (975/2084, HGDP_Stanford)
A=0.4984 (940/1886, HapMap)
C=0.3848 (705/1832, Korea1K)
A=0.333 (332/998, GoNL)
C=0.418 (324/776, PRJEB37584)
A=0.323 (194/600, NorthernSweden)
A=0.309 (134/434, SGDP_PRJ)
A=0.347 (75/216, Qatari)
C=0.375 (78/208, Vietnamese)
A=0.26 (12/46, Siberian)
A=0.38 (15/40, GENOME_DK)
A=0.32 (12/38, Ancient Sardinia)
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.6267212A>C
GRCh38.p13 chr 10 NC_000010.11:g.6267212A>G
GRCh37.p13 chr 10 NC_000010.10:g.6309175A>C
GRCh37.p13 chr 10 NC_000010.10:g.6309175A>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 247658 A=0.365799 C=0.634201
European Sub 219360 A=0.349125 C=0.650875
African Sub 7968 A=0.5515 C=0.4485
African Others Sub 296 A=0.598 C=0.402
African American Sub 7672 A=0.5497 C=0.4503
Asian Sub 3862 A=0.6429 C=0.3571
East Asian Sub 3132 A=0.6510 C=0.3490
Other Asian Sub 730 A=0.608 C=0.392
Latin American 1 Sub 1042 A=0.4261 C=0.5739
Latin American 2 Sub 6642 A=0.4752 C=0.5248
South Asian Sub 366 A=0.402 C=0.598
Other Sub 8418 A=0.4021 C=0.5979


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=0.442049 C=0.557951
gnomAD - Genomes Global Study-wide 140068 A=0.434503 C=0.565497
gnomAD - Genomes European Sub 75870 A=0.36263 C=0.63737
gnomAD - Genomes African Sub 41968 A=0.55166 C=0.44834
gnomAD - Genomes American Sub 13632 A=0.43479 C=0.56521
gnomAD - Genomes Ashkenazi Jewish Sub 3324 A=0.4248 C=0.5752
gnomAD - Genomes East Asian Sub 3124 A=0.5986 C=0.4014
gnomAD - Genomes Other Sub 2150 A=0.4586 C=0.5414
The PAGE Study Global Study-wide 78696 A=0.51975 C=0.48025
The PAGE Study AfricanAmerican Sub 32514 A=0.54930 C=0.45070
The PAGE Study Mexican Sub 10808 A=0.46614 C=0.53386
The PAGE Study Asian Sub 8318 A=0.6568 C=0.3432
The PAGE Study PuertoRican Sub 7918 A=0.4640 C=0.5360
The PAGE Study NativeHawaiian Sub 4532 A=0.5254 C=0.4746
The PAGE Study Cuban Sub 4230 A=0.4168 C=0.5832
The PAGE Study Dominican Sub 3828 A=0.4909 C=0.5091
The PAGE Study CentralAmerican Sub 2450 A=0.4404 C=0.5596
The PAGE Study SouthAmerican Sub 1982 A=0.4808 C=0.5192
The PAGE Study NativeAmerican Sub 1260 A=0.3794 C=0.6206
The PAGE Study SouthAsian Sub 856 A=0.390 C=0.610
8.3KJPN JAPANESE Study-wide 16760 A=0.62900 C=0.37100
1000Genomes Global Study-wide 5008 A=0.4956 C=0.5044
1000Genomes African Sub 1322 A=0.5998 C=0.4002
1000Genomes East Asian Sub 1008 A=0.6111 C=0.3889
1000Genomes Europe Sub 1006 A=0.3718 C=0.6282
1000Genomes South Asian Sub 978 A=0.395 C=0.605
1000Genomes American Sub 694 A=0.451 C=0.549
Genetic variation in the Estonian population Estonian Study-wide 4480 A=0.3567 C=0.6433
The Avon Longitudinal Study of Parents and Children PARENT AND CHILD COHORT Study-wide 3854 A=0.3428 C=0.6572
UK 10K study - Twins TWIN COHORT Study-wide 3708 A=0.3498 C=0.6502
KOREAN population from KRGDB KOREAN Study-wide 2930 A=0.6433 C=0.3567, G=0.0000
HGDP-CEPH-db Supplement 1 Global Study-wide 2084 A=0.4679 C=0.5321
HGDP-CEPH-db Supplement 1 Est_Asia Sub 470 A=0.579 C=0.421
HGDP-CEPH-db Supplement 1 Central_South_Asia Sub 414 A=0.440 C=0.560
HGDP-CEPH-db Supplement 1 Middle_Est Sub 350 A=0.391 C=0.609
HGDP-CEPH-db Supplement 1 Europe Sub 320 A=0.303 C=0.697
HGDP-CEPH-db Supplement 1 Africa Sub 242 A=0.533 C=0.467
HGDP-CEPH-db Supplement 1 America Sub 216 A=0.569 C=0.431
HGDP-CEPH-db Supplement 1 Oceania Sub 72 A=0.49 C=0.51
HapMap Global Study-wide 1886 A=0.4984 C=0.5016
HapMap American Sub 764 A=0.438 C=0.562
HapMap African Sub 692 A=0.561 C=0.439
HapMap Asian Sub 254 A=0.594 C=0.406
HapMap Europe Sub 176 A=0.375 C=0.625
Korean Genome Project KOREAN Study-wide 1832 A=0.6152 C=0.3848
Genome of the Netherlands Release 5 Genome of the Netherlands Study-wide 998 A=0.333 C=0.667
CNV burdens in cranial meningiomas Global Study-wide 776 A=0.582 C=0.418
CNV burdens in cranial meningiomas CRM Sub 776 A=0.582 C=0.418
Northern Sweden ACPOP Study-wide 600 A=0.323 C=0.677
SGDP_PRJ Global Study-wide 434 A=0.309 C=0.691
Qatari Global Study-wide 216 A=0.347 C=0.653
A Vietnamese Genetic Variation Database Global Study-wide 208 A=0.625 C=0.375
Siberian Global Study-wide 46 A=0.26 C=0.74
The Danish reference pan genome Danish Study-wide 40 A=0.38 C=0.62
Ancient Sardinia genome-wide 1240k capture data generation and analysis Global Study-wide 38 A=0.32 C=0.68
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 G
GRCh38.p13 chr 10 NC_000010.11:g.6267212= NC_000010.11:g.6267212A>C NC_000010.11:g.6267212A>G
GRCh37.p13 chr 10 NC_000010.10:g.6309175= NC_000010.10:g.6309175A>C NC_000010.10:g.6309175A>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#.

110 SubSNP, 22 Frequency submissions
No Submitter Submission ID Date (Build)
1 SC_SNP ss15791608 Feb 27, 2004 (120)
2 CSHL-HAPMAP ss17405289 Feb 27, 2004 (120)
3 SC_SNP ss18443825 Feb 27, 2004 (120)
4 SC_SNP ss18899368 Feb 27, 2004 (120)
5 ABI ss39699974 Mar 15, 2006 (126)
6 ILLUMINA ss67019064 Dec 01, 2006 (127)
7 ILLUMINA ss71023603 May 17, 2007 (127)
8 ILLUMINA ss75383403 Dec 05, 2007 (129)
9 BCMHGSC_JDW ss88080919 Mar 23, 2008 (129)
10 BGI ss102850379 Dec 01, 2009 (131)
11 1000GENOMES ss109197422 Jan 23, 2009 (130)
12 ILLUMINA-UK ss119003897 Feb 15, 2009 (130)
13 KRIBB_YJKIM ss119638815 Dec 01, 2009 (131)
14 ENSEMBL ss131661820 Dec 01, 2009 (131)
15 GMI ss154522733 Dec 01, 2009 (131)
16 ILLUMINA ss159922020 Dec 01, 2009 (131)
17 COMPLETE_GENOMICS ss167743141 Jul 04, 2010 (132)
18 COMPLETE_GENOMICS ss170369310 Jul 04, 2010 (132)
19 ILLUMINA ss170542964 Jul 04, 2010 (132)
20 BUSHMAN ss201097467 Jul 04, 2010 (132)
21 1000GENOMES ss210889939 Jul 14, 2010 (132)
22 1000GENOMES ss224544536 Jul 14, 2010 (132)
23 1000GENOMES ss235038067 Jul 15, 2010 (132)
24 1000GENOMES ss241773883 Jul 15, 2010 (132)
25 BL ss254025793 May 09, 2011 (134)
26 GMI ss280464749 May 04, 2012 (137)
27 GMI ss286122478 Apr 25, 2013 (138)
28 PJP ss290900159 May 09, 2011 (134)
29 ILLUMINA ss479352851 May 04, 2012 (137)
30 ILLUMINA ss479355871 May 04, 2012 (137)
31 ILLUMINA ss479754057 Sep 08, 2015 (146)
32 ILLUMINA ss484476585 May 04, 2012 (137)
33 ILLUMINA ss536635639 Sep 08, 2015 (146)
34 TISHKOFF ss561745392 Apr 25, 2013 (138)
35 SSMP ss656251620 Apr 25, 2013 (138)
36 ILLUMINA ss779027648 Aug 21, 2014 (142)
37 ILLUMINA ss782684829 Aug 21, 2014 (142)
38 ILLUMINA ss783653221 Aug 21, 2014 (142)
39 ILLUMINA ss831935679 Apr 01, 2015 (144)
40 ILLUMINA ss834490320 Aug 21, 2014 (142)
41 EVA-GONL ss987157292 Aug 21, 2014 (142)
42 JMKIDD_LAB ss1076731693 Aug 21, 2014 (142)
43 1000GENOMES ss1336130052 Aug 21, 2014 (142)
44 DDI ss1426208833 Apr 01, 2015 (144)
45 EVA_GENOME_DK ss1574889239 Apr 01, 2015 (144)
46 EVA_DECODE ss1596805250 Apr 01, 2015 (144)
47 EVA_UK10K_ALSPAC ss1623911736 Apr 01, 2015 (144)
48 EVA_UK10K_TWINSUK ss1666905769 Apr 01, 2015 (144)
49 EVA_SVP ss1713154099 Apr 01, 2015 (144)
50 ILLUMINA ss1751975101 Sep 08, 2015 (146)
51 HAMMER_LAB ss1806238292 Sep 08, 2015 (146)
52 WEILL_CORNELL_DGM ss1930478220 Feb 12, 2016 (147)
53 ILLUMINA ss1946275120 Feb 12, 2016 (147)
54 ILLUMINA ss1959236923 Feb 12, 2016 (147)
55 GENOMED ss1967049541 Jul 19, 2016 (147)
56 JJLAB ss2025962237 Sep 14, 2016 (149)
57 USC_VALOUEV ss2154204278 Dec 20, 2016 (150)
58 HUMAN_LONGEVITY ss2172358338 Dec 20, 2016 (150)
59 TOPMED ss2335067464 Dec 20, 2016 (150)
60 SYSTEMSBIOZJU ss2627450022 Nov 08, 2017 (151)
61 ILLUMINA ss2632669802 Nov 08, 2017 (151)
62 GRF ss2698428185 Nov 08, 2017 (151)
63 ILLUMINA ss2710701784 Nov 08, 2017 (151)
64 GNOMAD ss2885104985 Nov 08, 2017 (151)
65 SWEGEN ss3005875592 Nov 08, 2017 (151)
66 ILLUMINA ss3021210824 Nov 08, 2017 (151)
67 BIOINF_KMB_FNS_UNIBA ss3026764636 Nov 08, 2017 (151)
68 TOPMED ss3110663609 Nov 08, 2017 (151)
69 CSHL ss3348941938 Nov 08, 2017 (151)
70 ILLUMINA ss3625572927 Oct 12, 2018 (152)
71 ILLUMINA ss3626378169 Oct 12, 2018 (152)
72 ILLUMINA ss3630697710 Oct 12, 2018 (152)
73 ILLUMINA ss3632936995 Oct 12, 2018 (152)
74 ILLUMINA ss3633633613 Oct 12, 2018 (152)
75 ILLUMINA ss3634388402 Oct 12, 2018 (152)
76 ILLUMINA ss3635326448 Oct 12, 2018 (152)
77 ILLUMINA ss3636068219 Oct 12, 2018 (152)
78 ILLUMINA ss3637077034 Oct 12, 2018 (152)
79 ILLUMINA ss3637831845 Oct 12, 2018 (152)
80 ILLUMINA ss3640095750 Oct 12, 2018 (152)
81 ILLUMINA ss3640996891 Oct 12, 2018 (152)
82 ILLUMINA ss3641291092 Oct 12, 2018 (152)
83 ILLUMINA ss3642836741 Oct 12, 2018 (152)
84 ILLUMINA ss3644527793 Oct 12, 2018 (152)
85 ILLUMINA ss3651558727 Oct 12, 2018 (152)
86 EGCUT_WGS ss3673402696 Jul 13, 2019 (153)
87 EVA_DECODE ss3689206513 Jul 13, 2019 (153)
88 ILLUMINA ss3725132328 Jul 13, 2019 (153)
89 ACPOP ss3737026902 Jul 13, 2019 (153)
90 ILLUMINA ss3744065518 Jul 13, 2019 (153)
91 ILLUMINA ss3744689276 Jul 13, 2019 (153)
92 EVA ss3747699629 Jul 13, 2019 (153)
93 PAGE_CC ss3771539512 Jul 13, 2019 (153)
94 ILLUMINA ss3772189989 Jul 13, 2019 (153)
95 PACBIO ss3786570190 Jul 13, 2019 (153)
96 PACBIO ss3791764081 Jul 13, 2019 (153)
97 PACBIO ss3796645861 Jul 13, 2019 (153)
98 KHV_HUMAN_GENOMES ss3813062607 Jul 13, 2019 (153)
99 EVA ss3831947013 Apr 26, 2020 (154)
100 EVA ss3839504343 Apr 26, 2020 (154)
101 EVA ss3844970325 Apr 26, 2020 (154)
102 HGDP ss3847374082 Apr 26, 2020 (154)
103 SGDP_PRJ ss3873453453 Apr 26, 2020 (154)
104 KRGDB ss3921388905 Apr 26, 2020 (154)
105 KOGIC ss3967131318 Apr 26, 2020 (154)
106 EVA ss3984629131 Apr 26, 2021 (155)
107 EVA ss3985455311 Apr 26, 2021 (155)
108 EVA ss4017468485 Apr 26, 2021 (155)
109 TOPMED ss4841242437 Apr 26, 2021 (155)
110 TOMMO_GENOMICS ss5196096745 Apr 26, 2021 (155)
111 1000Genomes NC_000010.10 - 6309175 Oct 12, 2018 (152)
112 The Avon Longitudinal Study of Parents and Children NC_000010.10 - 6309175 Oct 12, 2018 (152)
113 Genetic variation in the Estonian population NC_000010.10 - 6309175 Oct 12, 2018 (152)
114 The Danish reference pan genome NC_000010.10 - 6309175 Apr 26, 2020 (154)
115 gnomAD - Genomes NC_000010.11 - 6267212 Apr 26, 2021 (155)
116 Genome of the Netherlands Release 5 NC_000010.10 - 6309175 Apr 26, 2020 (154)
117 HGDP-CEPH-db Supplement 1 NC_000010.9 - 6349181 Apr 26, 2020 (154)
118 HapMap NC_000010.11 - 6267212 Apr 26, 2020 (154)
119 KOREAN population from KRGDB NC_000010.10 - 6309175 Apr 26, 2020 (154)
120 Korean Genome Project NC_000010.11 - 6267212 Apr 26, 2020 (154)
121 Northern Sweden NC_000010.10 - 6309175 Jul 13, 2019 (153)
122 The PAGE Study NC_000010.11 - 6267212 Jul 13, 2019 (153)
123 Ancient Sardinia genome-wide 1240k capture data generation and analysis NC_000010.10 - 6309175 Apr 26, 2021 (155)
124 CNV burdens in cranial meningiomas NC_000010.10 - 6309175 Apr 26, 2021 (155)
125 Qatari NC_000010.10 - 6309175 Apr 26, 2020 (154)
126 SGDP_PRJ NC_000010.10 - 6309175 Apr 26, 2020 (154)
127 Siberian NC_000010.10 - 6309175 Apr 26, 2020 (154)
128 8.3KJPN NC_000010.10 - 6309175 Apr 26, 2021 (155)
129 TopMed NC_000010.11 - 6267212 Apr 26, 2021 (155)
130 UK 10K study - Twins NC_000010.10 - 6309175 Oct 12, 2018 (152)
131 A Vietnamese Genetic Variation Database NC_000010.10 - 6309175 Jul 13, 2019 (153)
132 ALFA NC_000010.11 - 6267212 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).

Added to this RefSNP Cluster:
Submission IDs Observation SPDI Canonical SPDI Source RSIDs
51974, ss88080919, ss109197422, ss119003897, ss159922020, ss167743141, ss170369310, ss201097467, ss210889939, ss254025793, ss280464749, ss286122478, ss290900159, ss479352851, ss1596805250, ss1713154099, ss3642836741, ss3847374082 NC_000010.9:6349180:A:C NC_000010.11:6267211:A:C (self)
48471360, 26932135, 19140944, 2014443, 12012181, 28566299, 10311767, 681238, 178587, 12520150, 25470433, 6720632, 54066052, 26932135, 5978567, ss224544536, ss235038067, ss241773883, ss479355871, ss479754057, ss484476585, ss536635639, ss561745392, ss656251620, ss779027648, ss782684829, ss783653221, ss831935679, ss834490320, ss987157292, ss1076731693, ss1336130052, ss1426208833, ss1574889239, ss1623911736, ss1666905769, ss1751975101, ss1806238292, ss1930478220, ss1946275120, ss1959236923, ss1967049541, ss2025962237, ss2154204278, ss2335067464, ss2627450022, ss2632669802, ss2698428185, ss2710701784, ss2885104985, ss3005875592, ss3021210824, ss3348941938, ss3625572927, ss3626378169, ss3630697710, ss3632936995, ss3633633613, ss3634388402, ss3635326448, ss3636068219, ss3637077034, ss3637831845, ss3640095750, ss3640996891, ss3641291092, ss3644527793, ss3651558727, ss3673402696, ss3737026902, ss3744065518, ss3744689276, ss3747699629, ss3772189989, ss3786570190, ss3791764081, ss3796645861, ss3831947013, ss3839504343, ss3873453453, ss3921388905, ss3984629131, ss3985455311, ss4017468485, ss5196096745 NC_000010.10:6309174:A:C NC_000010.11:6267211:A:C (self)
342415333, 330059, 23509319, 760981, 35683445, 56788092, 7197273057, ss2172358338, ss3026764636, ss3110663609, ss3689206513, ss3725132328, ss3771539512, ss3813062607, ss3844970325, ss3967131318, ss4841242437 NC_000010.11:6267211:A:C NC_000010.11:6267211:A:C (self)
ss39699974, ss67019064, ss71023603, ss75383403, ss102850379, ss119638815, ss131661820, ss154522733, ss170542964 NT_008705.16:6249174:A:C NC_000010.11:6267211:A:C (self)
ss15791608, ss17405289, ss18443825, ss18899368 NT_077569.2:672070:A:C NC_000010.11:6267211:A:C (self)
28566299, ss3921388905 NC_000010.10:6309174:A:G NC_000010.11:6267211:A: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 rs10795949

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