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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.

rs11596955

Current Build 155

Released April 9, 2021

Organism
Homo sapiens
Position
chr10:6265460 (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
Variation Type
SNV Single Nucleotide Variation
Frequency
C=0.463708 (122739/264690, TOPMED)
A=0.407019 (99246/243836, ALFA)
C=0.488696 (68347/139856, GnomAD) (+ 16 more)
C=0.33090 (26030/78664, PAGE_STUDY)
C=0.17912 (3002/16760, 8.3KJPN)
C=0.3355 (1680/5008, 1000G)
A=0.3799 (1702/4480, Estonian)
A=0.3638 (1402/3854, ALSPAC)
A=0.3722 (1380/3708, TWINSUK)
C=0.1652 (484/2930, KOREAN)
A=0.340 (339/998, GoNL)
C=0.166 (130/784, PRJEB37584)
A=0.347 (208/600, NorthernSweden)
A=0.369 (110/298, SGDP_PRJ)
C=0.337 (99/294, HapMap)
C=0.421 (91/216, Qatari)
C=0.140 (30/214, Vietnamese)
A=0.35 (14/40, GENOME_DK)
A=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.6265460A>C
GRCh37.p13 chr 10 NC_000010.10:g.6307423A>C
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 243836 A=0.407019 C=0.592981
European Sub 216952 A=0.379171 C=0.620829
African Sub 6788 A=0.6897 C=0.3103
African Others Sub 262 A=0.744 C=0.256
African American Sub 6526 A=0.6876 C=0.3124
Asian Sub 3848 A=0.8235 C=0.1765
East Asian Sub 3116 A=0.8424 C=0.1576
Other Asian Sub 732 A=0.743 C=0.257
Latin American 1 Sub 1024 A=0.5576 C=0.4424
Latin American 2 Sub 6434 A=0.6543 C=0.3457
South Asian Sub 364 A=0.629 C=0.371
Other Sub 8426 A=0.4893 C=0.5107


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=0.536292 C=0.463708
gnomAD - Genomes Global Study-wide 139856 A=0.511304 C=0.488696
gnomAD - Genomes European Sub 75784 A=0.38074 C=0.61926
gnomAD - Genomes African Sub 41890 A=0.69344 C=0.30656
gnomAD - Genomes American Sub 13592 A=0.59417 C=0.40583
gnomAD - Genomes Ashkenazi Jewish Sub 3322 A=0.5370 C=0.4630
gnomAD - Genomes East Asian Sub 3124 A=0.8319 C=0.1681
gnomAD - Genomes Other Sub 2144 A=0.5354 C=0.4646
The PAGE Study Global Study-wide 78664 A=0.66910 C=0.33090
The PAGE Study AfricanAmerican Sub 32496 A=0.68762 C=0.31238
The PAGE Study Mexican Sub 10806 A=0.65528 C=0.34472
The PAGE Study Asian Sub 8314 A=0.8267 C=0.1733
The PAGE Study PuertoRican Sub 7916 A=0.5557 C=0.4443
The PAGE Study NativeHawaiian Sub 4534 A=0.7552 C=0.2448
The PAGE Study Cuban Sub 4230 A=0.4910 C=0.5090
The PAGE Study Dominican Sub 3826 A=0.6035 C=0.3965
The PAGE Study CentralAmerican Sub 2446 A=0.6656 C=0.3344
The PAGE Study SouthAmerican Sub 1982 A=0.6645 C=0.3355
The PAGE Study NativeAmerican Sub 1260 A=0.5071 C=0.4929
The PAGE Study SouthAsian Sub 854 A=0.635 C=0.365
8.3KJPN JAPANESE Study-wide 16760 A=0.82088 C=0.17912
1000Genomes Global Study-wide 5008 A=0.6645 C=0.3355
1000Genomes African Sub 1322 A=0.7405 C=0.2595
1000Genomes East Asian Sub 1008 A=0.8452 C=0.1548
1000Genomes Europe Sub 1006 A=0.4155 C=0.5845
1000Genomes South Asian Sub 978 A=0.651 C=0.349
1000Genomes American Sub 694 A=0.637 C=0.363
Genetic variation in the Estonian population Estonian Study-wide 4480 A=0.3799 C=0.6201
The Avon Longitudinal Study of Parents and Children PARENT AND CHILD COHORT Study-wide 3854 A=0.3638 C=0.6362
UK 10K study - Twins TWIN COHORT Study-wide 3708 A=0.3722 C=0.6278
KOREAN population from KRGDB KOREAN Study-wide 2930 A=0.8348 C=0.1652
Genome of the Netherlands Release 5 Genome of the Netherlands Study-wide 998 A=0.340 C=0.660
CNV burdens in cranial meningiomas Global Study-wide 784 A=0.834 C=0.166
CNV burdens in cranial meningiomas CRM Sub 784 A=0.834 C=0.166
Northern Sweden ACPOP Study-wide 600 A=0.347 C=0.653
SGDP_PRJ Global Study-wide 298 A=0.369 C=0.631
HapMap Global Study-wide 294 A=0.663 C=0.337
HapMap African Sub 116 A=0.853 C=0.147
HapMap American Sub 106 A=0.340 C=0.660
HapMap Asian Sub 72 A=0.83 C=0.17
Qatari Global Study-wide 216 A=0.579 C=0.421
A Vietnamese Genetic Variation Database Global Study-wide 214 A=0.860 C=0.140
The Danish reference pan genome Danish Study-wide 40 A=0.35 C=0.65
Siberian Global Study-wide 40 A=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 A= C
GRCh38.p13 chr 10 NC_000010.11:g.6265460= NC_000010.11:g.6265460A>C
GRCh37.p13 chr 10 NC_000010.10:g.6307423= NC_000010.10:g.6307423A>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#.

97 SubSNP, 19 Frequency submissions
No Submitter Submission ID Date (Build)
1 CSHL-HAPMAP ss16494709 Feb 28, 2004 (120)
2 ABI ss39810644 Mar 15, 2006 (126)
3 PERLEGEN ss69068734 May 18, 2007 (127)
4 HGSV ss77263697 Dec 06, 2007 (129)
5 BCMHGSC_JDW ss88080908 Mar 23, 2008 (129)
6 BGI ss102850375 Dec 01, 2009 (131)
7 1000GENOMES ss109197391 Jan 23, 2009 (130)
8 ENSEMBL ss131661802 Dec 01, 2009 (131)
9 GMI ss154522705 Dec 01, 2009 (131)
10 ILLUMINA ss159984062 Dec 01, 2009 (131)
11 ENSEMBL ss161352534 Dec 01, 2009 (131)
12 COMPLETE_GENOMICS ss170369237 Jul 04, 2010 (132)
13 BUSHMAN ss201097447 Jul 04, 2010 (132)
14 BCM-HGSC-SUB ss206994022 Jul 04, 2010 (132)
15 1000GENOMES ss210889936 Jul 14, 2010 (132)
16 1000GENOMES ss224544525 Jul 14, 2010 (132)
17 1000GENOMES ss235038056 Jul 15, 2010 (132)
18 1000GENOMES ss241773872 Jul 15, 2010 (132)
19 BL ss254025768 May 09, 2011 (134)
20 GMI ss280464741 May 04, 2012 (137)
21 GMI ss286122473 Apr 25, 2013 (138)
22 PJP ss290900152 May 09, 2011 (134)
23 ILLUMINA ss479536017 May 04, 2012 (137)
24 ILLUMINA ss479539902 May 04, 2012 (137)
25 ILLUMINA ss480002076 Sep 08, 2015 (146)
26 ILLUMINA ss484566889 May 04, 2012 (137)
27 ILLUMINA ss536701864 Sep 08, 2015 (146)
28 TISHKOFF ss561745381 Apr 25, 2013 (138)
29 SSMP ss656251607 Apr 25, 2013 (138)
30 ILLUMINA ss778759973 Sep 08, 2015 (146)
31 ILLUMINA ss782730187 Sep 08, 2015 (146)
32 ILLUMINA ss783697419 Sep 08, 2015 (146)
33 ILLUMINA ss831981938 Sep 08, 2015 (146)
34 ILLUMINA ss834219722 Sep 08, 2015 (146)
35 EVA-GONL ss987157276 Aug 21, 2014 (142)
36 JMKIDD_LAB ss1076731678 Aug 21, 2014 (142)
37 1000GENOMES ss1336130001 Aug 21, 2014 (142)
38 DDI ss1426208825 Apr 01, 2015 (144)
39 EVA_GENOME_DK ss1574889230 Apr 01, 2015 (144)
40 EVA_DECODE ss1596805233 Apr 01, 2015 (144)
41 EVA_UK10K_ALSPAC ss1623911699 Apr 01, 2015 (144)
42 EVA_UK10K_TWINSUK ss1666905732 Apr 01, 2015 (144)
43 ILLUMINA ss1751975096 Sep 08, 2015 (146)
44 HAMMER_LAB ss1806238282 Sep 08, 2015 (146)
45 WEILL_CORNELL_DGM ss1930478202 Feb 12, 2016 (147)
46 ILLUMINA ss1946275119 Feb 12, 2016 (147)
47 ILLUMINA ss1959236920 Feb 12, 2016 (147)
48 JJLAB ss2025962225 Sep 14, 2016 (149)
49 USC_VALOUEV ss2154204267 Dec 20, 2016 (150)
50 HUMAN_LONGEVITY ss2172358221 Dec 20, 2016 (150)
51 TOPMED ss2335067354 Dec 20, 2016 (150)
52 ILLUMINA ss2632669798 Nov 08, 2017 (151)
53 GRF ss2698428172 Nov 08, 2017 (151)
54 ILLUMINA ss2710701783 Nov 08, 2017 (151)
55 GNOMAD ss2885104845 Nov 08, 2017 (151)
56 SWEGEN ss3005875574 Nov 08, 2017 (151)
57 ILLUMINA ss3021210821 Nov 08, 2017 (151)
58 BIOINF_KMB_FNS_UNIBA ss3026764629 Nov 08, 2017 (151)
59 TOPMED ss3110663288 Nov 08, 2017 (151)
60 CSHL ss3348941931 Nov 08, 2017 (151)
61 ILLUMINA ss3625572926 Oct 12, 2018 (152)
62 ILLUMINA ss3626378163 Oct 12, 2018 (152)
63 ILLUMINA ss3630697706 Oct 12, 2018 (152)
64 ILLUMINA ss3632936993 Oct 12, 2018 (152)
65 ILLUMINA ss3633633611 Oct 12, 2018 (152)
66 ILLUMINA ss3634388400 Oct 12, 2018 (152)
67 ILLUMINA ss3635326446 Oct 12, 2018 (152)
68 ILLUMINA ss3636068217 Oct 12, 2018 (152)
69 ILLUMINA ss3637077032 Oct 12, 2018 (152)
70 ILLUMINA ss3640095748 Oct 12, 2018 (152)
71 ILLUMINA ss3640996890 Oct 12, 2018 (152)
72 ILLUMINA ss3641291091 Oct 12, 2018 (152)
73 ILLUMINA ss3644527792 Oct 12, 2018 (152)
74 ILLUMINA ss3651558724 Oct 12, 2018 (152)
75 EGCUT_WGS ss3673402676 Jul 13, 2019 (153)
76 EVA_DECODE ss3689206490 Jul 13, 2019 (153)
77 ILLUMINA ss3725132325 Jul 13, 2019 (153)
78 ACPOP ss3737026887 Jul 13, 2019 (153)
79 ILLUMINA ss3744065517 Jul 13, 2019 (153)
80 ILLUMINA ss3744689274 Jul 13, 2019 (153)
81 EVA ss3747699607 Jul 13, 2019 (153)
82 PAGE_CC ss3771539509 Jul 13, 2019 (153)
83 ILLUMINA ss3772189987 Jul 13, 2019 (153)
84 PACBIO ss3786570184 Jul 13, 2019 (153)
85 PACBIO ss3791764075 Jul 13, 2019 (153)
86 PACBIO ss3796645855 Jul 13, 2019 (153)
87 KHV_HUMAN_GENOMES ss3813062591 Jul 13, 2019 (153)
88 EVA ss3831947004 Apr 26, 2020 (154)
89 EVA ss3839504333 Apr 26, 2020 (154)
90 EVA ss3844970315 Apr 26, 2020 (154)
91 SGDP_PRJ ss3873453432 Apr 26, 2020 (154)
92 KRGDB ss3921388879 Apr 26, 2020 (154)
93 EVA ss3984629130 Apr 26, 2021 (155)
94 EVA ss4017468482 Apr 26, 2021 (155)
95 TOPMED ss4841242013 Apr 26, 2021 (155)
96 TOMMO_GENOMICS ss5196096695 Apr 26, 2021 (155)
97 EVA ss5237470852 Apr 26, 2021 (155)
98 1000Genomes NC_000010.10 - 6307423 Oct 12, 2018 (152)
99 The Avon Longitudinal Study of Parents and Children NC_000010.10 - 6307423 Oct 12, 2018 (152)
100 Genetic variation in the Estonian population NC_000010.10 - 6307423 Oct 12, 2018 (152)
101 The Danish reference pan genome NC_000010.10 - 6307423 Apr 26, 2020 (154)
102 gnomAD - Genomes NC_000010.11 - 6265460 Apr 26, 2021 (155)
103 Genome of the Netherlands Release 5 NC_000010.10 - 6307423 Apr 26, 2020 (154)
104 HapMap NC_000010.11 - 6265460 Apr 26, 2020 (154)
105 KOREAN population from KRGDB NC_000010.10 - 6307423 Apr 26, 2020 (154)
106 Northern Sweden NC_000010.10 - 6307423 Jul 13, 2019 (153)
107 The PAGE Study NC_000010.11 - 6265460 Jul 13, 2019 (153)
108 CNV burdens in cranial meningiomas NC_000010.10 - 6307423 Apr 26, 2021 (155)
109 Qatari NC_000010.10 - 6307423 Apr 26, 2020 (154)
110 SGDP_PRJ NC_000010.10 - 6307423 Apr 26, 2020 (154)
111 Siberian NC_000010.10 - 6307423 Apr 26, 2020 (154)
112 8.3KJPN NC_000010.10 - 6307423 Apr 26, 2021 (155)
113 TopMed NC_000010.11 - 6265460 Apr 26, 2021 (155)
114 UK 10K study - Twins NC_000010.10 - 6307423 Oct 12, 2018 (152)
115 A Vietnamese Genetic Variation Database NC_000010.10 - 6307423 Jul 13, 2019 (153)
116 ALFA NC_000010.11 - 6265460 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
ss77263697 NC_000010.8:6347428:A:C NC_000010.11:6265459:A:C (self)
ss88080908, ss109197391, ss170369237, ss201097447, ss206994022, ss210889936, ss254025768, ss280464741, ss286122473, ss290900152, ss479536017, ss1596805233 NC_000010.9:6347428:A:C NC_000010.11:6265459:A:C (self)
48471306, 26932095, 19140924, 2014434, 12012165, 28566273, 10311752, 178586, 12520132, 25470412, 6720621, 54066002, 26932095, 5978558, ss224544525, ss235038056, ss241773872, ss479539902, ss480002076, ss484566889, ss536701864, ss561745381, ss656251607, ss778759973, ss782730187, ss783697419, ss831981938, ss834219722, ss987157276, ss1076731678, ss1336130001, ss1426208825, ss1574889230, ss1623911699, ss1666905732, ss1751975096, ss1806238282, ss1930478202, ss1946275119, ss1959236920, ss2025962225, ss2154204267, ss2335067354, ss2632669798, ss2698428172, ss2710701783, ss2885104845, ss3005875574, ss3021210821, ss3348941931, ss3625572926, ss3626378163, ss3630697706, ss3632936993, ss3633633611, ss3634388400, ss3635326446, ss3636068217, ss3637077032, ss3640095748, ss3640996890, ss3641291091, ss3644527792, ss3651558724, ss3673402676, ss3737026887, ss3744065517, ss3744689274, ss3747699607, ss3772189987, ss3786570184, ss3791764075, ss3796645855, ss3831947004, ss3839504333, ss3873453432, ss3921388879, ss3984629130, ss4017468482, ss5196096695, ss5237470852 NC_000010.10:6307422:A:C NC_000010.11:6265459:A:C (self)
342414991, 330051, 760978, 35683160, 56787668, 4577498046, ss2172358221, ss3026764629, ss3110663288, ss3689206490, ss3725132325, ss3771539509, ss3813062591, ss3844970315, ss4841242013 NC_000010.11:6265459:A:C NC_000010.11:6265459:A:C (self)
ss39810644, ss69068734, ss102850375, ss131661802, ss154522705, ss159984062, ss161352534 NT_008705.16:6247422:A:C NC_000010.11:6265459:A:C (self)
ss16494709 NT_077569.2:670318:A:C NC_000010.11:6265459:A:C (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 rs11596955

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