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dbSNP Short Genetic Variations

Examples: rs268, BRCA1 and more Advanced search

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.

rs10836233

Current Build 156

Released September 21, 2022

Organism
Homo sapiens
Position
chr11:34436025 (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
G>A / G>C
Variation Type
SNV Single Nucleotide Variation
Frequency
A=0.166931 (44185/264690, TOPMED)
A=0.156622 (21949/140140, GnomAD)
A=0.12003 (6506/54202, ALFA) (+ 20 more)
A=0.27033 (7639/28258, 14KJPN)
A=0.27014 (4527/16758, 8.3KJPN)
A=0.1883 (1206/6404, 1000G_30x)
A=0.1883 (943/5008, 1000G)
A=0.0797 (357/4480, Estonian)
A=0.0944 (364/3854, ALSPAC)
A=0.0809 (300/3708, TWINSUK)
A=0.2526 (740/2930, KOREAN)
A=0.1868 (389/2082, HGDP_Stanford)
A=0.2125 (402/1892, HapMap)
A=0.2369 (434/1832, Korea1K)
A=0.081 (81/998, GoNL)
A=0.092 (55/600, NorthernSweden)
A=0.204 (44/216, Qatari)
A=0.229 (49/214, Vietnamese)
G=0.431 (75/174, SGDP_PRJ)
A=0.12 (10/84, Ancient Sardinia)
A=0.10 (4/40, GENOME_DK)
G=0.5 (4/8, Siberian)
A=0.5 (4/8, Siberian)
Clinical Significance
Not Reported in ClinVar
Gene : Consequence
LOC105376622 : 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 54202 G=0.87997 A=0.12003
European Sub 38310 G=0.90329 A=0.09671
African Sub 6106 G=0.7204 A=0.2796
African Others Sub 214 G=0.743 A=0.257
African American Sub 5892 G=0.7196 A=0.2804
Asian Sub 450 G=0.691 A=0.309
East Asian Sub 382 G=0.702 A=0.298
Other Asian Sub 68 G=0.63 A=0.37
Latin American 1 Sub 596 G=0.846 A=0.154
Latin American 2 Sub 4964 G=0.9073 A=0.0927
South Asian Sub 162 G=0.951 A=0.049
Other Sub 3614 G=0.8907 A=0.1093


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 G=0.833069 A=0.166931
gnomAD - Genomes Global Study-wide 140140 G=0.843378 A=0.156622
gnomAD - Genomes European Sub 75914 G=0.90837 A=0.09163
gnomAD - Genomes African Sub 41972 G=0.72184 A=0.27816
gnomAD - Genomes American Sub 13660 G=0.88133 A=0.11867
gnomAD - Genomes Ashkenazi Jewish Sub 3324 G=0.8788 A=0.1212
gnomAD - Genomes East Asian Sub 3120 G=0.7022 A=0.2978
gnomAD - Genomes Other Sub 2150 G=0.8302 A=0.1698
Allele Frequency Aggregator Total Global 54202 G=0.87997 A=0.12003
Allele Frequency Aggregator European Sub 38310 G=0.90329 A=0.09671
Allele Frequency Aggregator African Sub 6106 G=0.7204 A=0.2796
Allele Frequency Aggregator Latin American 2 Sub 4964 G=0.9073 A=0.0927
Allele Frequency Aggregator Other Sub 3614 G=0.8907 A=0.1093
Allele Frequency Aggregator Latin American 1 Sub 596 G=0.846 A=0.154
Allele Frequency Aggregator Asian Sub 450 G=0.691 A=0.309
Allele Frequency Aggregator South Asian Sub 162 G=0.951 A=0.049
14KJPN JAPANESE Study-wide 28258 G=0.72967 A=0.27033
8.3KJPN JAPANESE Study-wide 16758 G=0.72986 A=0.27014
1000Genomes_30x Global Study-wide 6404 G=0.8117 A=0.1883
1000Genomes_30x African Sub 1786 G=0.6758 A=0.3242
1000Genomes_30x Europe Sub 1266 G=0.9092 A=0.0908
1000Genomes_30x South Asian Sub 1202 G=0.9651 A=0.0349
1000Genomes_30x East Asian Sub 1170 G=0.6966 A=0.3034
1000Genomes_30x American Sub 980 G=0.883 A=0.117
1000Genomes Global Study-wide 5008 G=0.8117 A=0.1883
1000Genomes African Sub 1322 G=0.6778 A=0.3222
1000Genomes East Asian Sub 1008 G=0.6954 A=0.3046
1000Genomes Europe Sub 1006 G=0.9076 A=0.0924
1000Genomes South Asian Sub 978 G=0.967 A=0.033
1000Genomes American Sub 694 G=0.878 A=0.122
Genetic variation in the Estonian population Estonian Study-wide 4480 G=0.9203 A=0.0797
The Avon Longitudinal Study of Parents and Children PARENT AND CHILD COHORT Study-wide 3854 G=0.9056 A=0.0944
UK 10K study - Twins TWIN COHORT Study-wide 3708 G=0.9191 A=0.0809
KOREAN population from KRGDB KOREAN Study-wide 2930 G=0.7474 A=0.2526, C=0.0000
HGDP-CEPH-db Supplement 1 Global Study-wide 2082 G=0.8132 A=0.1868
HGDP-CEPH-db Supplement 1 Est_Asia Sub 468 G=0.735 A=0.265
HGDP-CEPH-db Supplement 1 Central_South_Asia Sub 414 G=0.932 A=0.068
HGDP-CEPH-db Supplement 1 Middle_Est Sub 350 G=0.686 A=0.314
HGDP-CEPH-db Supplement 1 Europe Sub 320 G=0.891 A=0.109
HGDP-CEPH-db Supplement 1 Africa Sub 242 G=0.640 A=0.360
HGDP-CEPH-db Supplement 1 America Sub 216 G=0.991 A=0.009
HGDP-CEPH-db Supplement 1 Oceania Sub 72 G=0.96 A=0.04
HapMap Global Study-wide 1892 G=0.7875 A=0.2125
HapMap American Sub 770 G=0.864 A=0.136
HapMap African Sub 692 G=0.708 A=0.292
HapMap Asian Sub 254 G=0.701 A=0.299
HapMap Europe Sub 176 G=0.892 A=0.108
Korean Genome Project KOREAN Study-wide 1832 G=0.7631 A=0.2369
Genome of the Netherlands Release 5 Genome of the Netherlands Study-wide 998 G=0.919 A=0.081
Northern Sweden ACPOP Study-wide 600 G=0.908 A=0.092
Qatari Global Study-wide 216 G=0.796 A=0.204
A Vietnamese Genetic Variation Database Global Study-wide 214 G=0.771 A=0.229
SGDP_PRJ Global Study-wide 174 G=0.431 A=0.569
Ancient Sardinia genome-wide 1240k capture data generation and analysis Global Study-wide 84 G=0.88 A=0.12
The Danish reference pan genome Danish Study-wide 40 G=0.90 A=0.10
Siberian Global Study-wide 8 G=0.5 A=0.5
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 11 NC_000011.10:g.34436025G>A
GRCh38.p14 chr 11 NC_000011.10:g.34436025G>C
GRCh37.p13 chr 11 NC_000011.9:g.34457572G>A
GRCh37.p13 chr 11 NC_000011.9:g.34457572G>C
CAT RefSeqGene NG_013339.2:g.2101G>A
CAT RefSeqGene NG_013339.2:g.2101G>C
Gene: LOC105376622, uncharacterized LOC105376622 (plus strand)
Molecule type Change Amino acid[Codon] SO Term
LOC105376622 transcript XR_931180.3:n. N/A Intron 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 G= A C
GRCh38.p14 chr 11 NC_000011.10:g.34436025= NC_000011.10:g.34436025G>A NC_000011.10:g.34436025G>C
GRCh37.p13 chr 11 NC_000011.9:g.34457572= NC_000011.9:g.34457572G>A NC_000011.9:g.34457572G>C
CAT RefSeqGene NG_013339.2:g.2101= NG_013339.2:g.2101G>A NG_013339.2:g.2101G>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#.

76 SubSNP, 22 Frequency submissions
No Submitter Submission ID Date (Build)
1 SC_SNP ss16112825 Feb 27, 2004 (120)
2 SC_SNP ss18491505 Feb 27, 2004 (120)
3 SC_SNP ss18723603 Feb 27, 2004 (120)
4 ABI ss38721516 Mar 14, 2006 (126)
5 ILLUMINA ss67026341 Nov 29, 2006 (127)
6 ILLUMINA ss71027284 May 16, 2007 (127)
7 ILLUMINA ss75336976 Dec 06, 2007 (129)
8 HUMANGENOME_JCVI ss97467113 Feb 05, 2009 (130)
9 1000GENOMES ss114452709 Jan 25, 2009 (130)
10 KRIBB_YJKIM ss119642437 Dec 01, 2009 (131)
11 ILLUMINA-UK ss119787149 Dec 01, 2009 (131)
12 ENSEMBL ss137746471 Dec 01, 2009 (131)
13 ILLUMINA ss159927355 Dec 01, 2009 (131)
14 COMPLETE_GENOMICS ss169607744 Jul 04, 2010 (132)
15 ILLUMINA ss170614820 Jul 04, 2010 (132)
16 BUSHMAN ss202575112 Jul 04, 2010 (132)
17 1000GENOMES ss225185451 Jul 14, 2010 (132)
18 1000GENOMES ss235515313 Jul 15, 2010 (132)
19 1000GENOMES ss242156151 Jul 15, 2010 (132)
20 ILLUMINA ss244270345 Jul 04, 2010 (132)
21 GMI ss280953994 May 04, 2012 (137)
22 PJP ss291217369 May 09, 2011 (134)
23 ILLUMINA ss479775294 Sep 08, 2015 (146)
24 ILLUMINA ss536641495 Sep 08, 2015 (146)
25 TISHKOFF ss562493213 Apr 25, 2013 (138)
26 SSMP ss657984722 Apr 25, 2013 (138)
27 EVA-GONL ss988393608 Aug 21, 2014 (142)
28 JMKIDD_LAB ss1077637505 Aug 21, 2014 (142)
29 1000GENOMES ss1340791207 Aug 21, 2014 (142)
30 DDI ss1426596577 Apr 01, 2015 (144)
31 EVA_GENOME_DK ss1575638389 Apr 01, 2015 (144)
32 EVA_DECODE ss1598070090 Apr 01, 2015 (144)
33 EVA_UK10K_ALSPAC ss1626347196 Apr 01, 2015 (144)
34 EVA_UK10K_TWINSUK ss1669341229 Apr 01, 2015 (144)
35 EVA_SVP ss1713247326 Apr 01, 2015 (144)
36 HAMMER_LAB ss1806770257 Sep 08, 2015 (146)
37 WEILL_CORNELL_DGM ss1931752024 Feb 12, 2016 (147)
38 JJLAB ss2026623121 Sep 14, 2016 (149)
39 USC_VALOUEV ss2154912628 Dec 20, 2016 (150)
40 HUMAN_LONGEVITY ss2181578500 Dec 20, 2016 (150)
41 SYSTEMSBIOZJU ss2627785327 Nov 08, 2017 (151)
42 GRF ss2699192433 Nov 08, 2017 (151)
43 GNOMAD ss2898234130 Nov 08, 2017 (151)
44 SWEGEN ss3007872411 Nov 08, 2017 (151)
45 BIOINF_KMB_FNS_UNIBA ss3027110475 Nov 08, 2017 (151)
46 CSHL ss3349536601 Nov 08, 2017 (151)
47 ILLUMINA ss3626637019 Oct 12, 2018 (152)
48 ILLUMINA ss3636133670 Oct 12, 2018 (152)
49 ILLUMINA ss3637900795 Oct 12, 2018 (152)
50 ILLUMINA ss3642899793 Oct 12, 2018 (152)
51 URBANLAB ss3649578233 Oct 12, 2018 (152)
52 EGCUT_WGS ss3675278542 Jul 13, 2019 (153)
53 EVA_DECODE ss3691549646 Jul 13, 2019 (153)
54 ACPOP ss3738074648 Jul 13, 2019 (153)
55 EVA ss3749150106 Jul 13, 2019 (153)
56 KHV_HUMAN_GENOMES ss3814499304 Jul 13, 2019 (153)
57 HGDP ss3847415455 Apr 26, 2020 (154)
58 SGDP_PRJ ss3876001729 Apr 26, 2020 (154)
59 KRGDB ss3924258615 Apr 26, 2020 (154)
60 KOGIC ss3969534084 Apr 26, 2020 (154)
61 EVA ss3985528876 Apr 26, 2021 (155)
62 EVA ss4017532492 Apr 26, 2021 (155)
63 TOPMED ss4881100716 Apr 26, 2021 (155)
64 TOMMO_GENOMICS ss5201438029 Apr 26, 2021 (155)
65 1000G_HIGH_COVERAGE ss5286989213 Oct 16, 2022 (156)
66 EVA ss5398814699 Oct 16, 2022 (156)
67 HUGCELL_USP ss5482232066 Oct 16, 2022 (156)
68 EVA ss5510316660 Oct 16, 2022 (156)
69 1000G_HIGH_COVERAGE ss5582422341 Oct 16, 2022 (156)
70 SANFORD_IMAGENETICS ss5650976327 Oct 16, 2022 (156)
71 TOMMO_GENOMICS ss5748406339 Oct 16, 2022 (156)
72 YY_MCH ss5812277483 Oct 16, 2022 (156)
73 EVA ss5836494572 Oct 16, 2022 (156)
74 EVA ss5849933587 Oct 16, 2022 (156)
75 EVA ss5919505322 Oct 16, 2022 (156)
76 EVA ss5942290962 Oct 16, 2022 (156)
77 1000Genomes NC_000011.9 - 34457572 Oct 12, 2018 (152)
78 1000Genomes_30x NC_000011.10 - 34436025 Oct 16, 2022 (156)
79 The Avon Longitudinal Study of Parents and Children NC_000011.9 - 34457572 Oct 12, 2018 (152)
80 Genetic variation in the Estonian population NC_000011.9 - 34457572 Oct 12, 2018 (152)
81 The Danish reference pan genome NC_000011.9 - 34457572 Apr 26, 2020 (154)
82 gnomAD - Genomes NC_000011.10 - 34436025 Apr 26, 2021 (155)
83 Genome of the Netherlands Release 5 NC_000011.9 - 34457572 Apr 26, 2020 (154)
84 HGDP-CEPH-db Supplement 1 NC_000011.8 - 34414148 Apr 26, 2020 (154)
85 HapMap NC_000011.10 - 34436025 Apr 26, 2020 (154)
86 KOREAN population from KRGDB NC_000011.9 - 34457572 Apr 26, 2020 (154)
87 Korean Genome Project NC_000011.10 - 34436025 Apr 26, 2020 (154)
88 Northern Sweden NC_000011.9 - 34457572 Jul 13, 2019 (153)
89 Ancient Sardinia genome-wide 1240k capture data generation and analysis NC_000011.9 - 34457572 Apr 26, 2021 (155)
90 Qatari NC_000011.9 - 34457572 Apr 26, 2020 (154)
91 SGDP_PRJ NC_000011.9 - 34457572 Apr 26, 2020 (154)
92 Siberian NC_000011.9 - 34457572 Apr 26, 2020 (154)
93 8.3KJPN NC_000011.9 - 34457572 Apr 26, 2021 (155)
94 14KJPN NC_000011.10 - 34436025 Oct 16, 2022 (156)
95 TopMed NC_000011.10 - 34436025 Apr 26, 2021 (155)
96 UK 10K study - Twins NC_000011.9 - 34457572 Oct 12, 2018 (152)
97 A Vietnamese Genetic Variation Database NC_000011.9 - 34457572 Jul 13, 2019 (153)
98 ALFA NC_000011.10 - 34436025 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
93347, ss114452709, ss119787149, ss169607744, ss202575112, ss280953994, ss291217369, ss1598070090, ss1713247326, ss3642899793, ss3847415455 NC_000011.8:34414147:G:A NC_000011.10:34436024:G:A (self)
53298869, 29609526, 21016790, 2517155, 13208004, 31436009, 11359513, 754803, 13793954, 28018709, 7428982, 59407336, 29609526, 6576771, ss225185451, ss235515313, ss242156151, ss479775294, ss536641495, ss562493213, ss657984722, ss988393608, ss1077637505, ss1340791207, ss1426596577, ss1575638389, ss1626347196, ss1669341229, ss1806770257, ss1931752024, ss2026623121, ss2154912628, ss2627785327, ss2699192433, ss2898234130, ss3007872411, ss3349536601, ss3626637019, ss3636133670, ss3637900795, ss3675278542, ss3738074648, ss3749150106, ss3876001729, ss3924258615, ss3985528876, ss4017532492, ss5201438029, ss5398814699, ss5510316660, ss5650976327, ss5836494572, ss5942290962 NC_000011.9:34457571:G:A NC_000011.10:34436024:G:A (self)
69948276, 376229304, 588132, 25912085, 82243443, 96646372, 4667657298, ss2181578500, ss3027110475, ss3649578233, ss3691549646, ss3814499304, ss3969534084, ss4881100716, ss5286989213, ss5482232066, ss5582422341, ss5748406339, ss5812277483, ss5849933587, ss5919505322 NC_000011.10:34436024:G:A NC_000011.10:34436024:G:A (self)
ss16112825, ss18491505, ss18723603 NT_009237.16:33221511:G:A NC_000011.10:34436024:G:A (self)
ss38721516, ss67026341, ss71027284, ss75336976, ss97467113, ss119642437, ss137746471, ss159927355, ss170614820, ss244270345 NT_009237.18:34397571:G:A NC_000011.10:34436024:G:A (self)
31436009, ss3924258615 NC_000011.9:34457571:G:C NC_000011.10:34436024:G: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 rs10836233

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