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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.

rs10008834

Current Build 156

Released September 21, 2022

Organism
Homo sapiens
Position
chr4:76151444 (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
T>C
Variation Type
SNV Single Nucleotide Variation
Frequency
C=0.125245 (33151/264690, TOPMED)
C=0.148618 (30101/202540, ALFA)
C=0.121843 (17071/140106, GnomAD) (+ 19 more)
C=0.35080 (9913/28258, 14KJPN)
C=0.34899 (5849/16760, 8.3KJPN)
C=0.1451 (929/6404, 1000G_30x)
C=0.1508 (755/5008, 1000G)
C=0.2067 (926/4480, Estonian)
C=0.1526 (588/3854, ALSPAC)
C=0.1583 (587/3708, TWINSUK)
C=0.3495 (1024/2930, KOREAN)
C=0.1804 (376/2084, HGDP_Stanford)
C=0.1423 (269/1890, HapMap)
C=0.3679 (674/1832, Korea1K)
C=0.141 (141/998, GoNL)
C=0.133 (80/600, NorthernSweden)
C=0.042 (9/216, Qatari)
C=0.315 (68/216, Vietnamese)
T=0.447 (67/150, SGDP_PRJ)
C=0.17 (7/40, GENOME_DK)
C=0.11 (4/36, Ancient Sardinia)
T=0.45 (10/22, Siberian)
Clinical Significance
Not Reported in ClinVar
Gene : Consequence
LOC124900718 : Non Coding Transcript 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 202540 T=0.851382 C=0.148618
European Sub 174700 T=0.847304 C=0.152696
African Sub 7518 T=0.9703 C=0.0297
African Others Sub 264 T=1.000 C=0.000
African American Sub 7254 T=0.9693 C=0.0307
Asian Sub 702 T=0.630 C=0.370
East Asian Sub 556 T=0.626 C=0.374
Other Asian Sub 146 T=0.644 C=0.356
Latin American 1 Sub 844 T=0.848 C=0.152
Latin American 2 Sub 6900 T=0.8352 C=0.1648
South Asian Sub 5042 T=0.8641 C=0.1359
Other Sub 6834 T=0.8548 C=0.1452


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=0.874755 C=0.125245
Allele Frequency Aggregator Total Global 202540 T=0.851382 C=0.148618
Allele Frequency Aggregator European Sub 174700 T=0.847304 C=0.152696
Allele Frequency Aggregator African Sub 7518 T=0.9703 C=0.0297
Allele Frequency Aggregator Latin American 2 Sub 6900 T=0.8352 C=0.1648
Allele Frequency Aggregator Other Sub 6834 T=0.8548 C=0.1452
Allele Frequency Aggregator South Asian Sub 5042 T=0.8641 C=0.1359
Allele Frequency Aggregator Latin American 1 Sub 844 T=0.848 C=0.152
Allele Frequency Aggregator Asian Sub 702 T=0.630 C=0.370
gnomAD - Genomes Global Study-wide 140106 T=0.878157 C=0.121843
gnomAD - Genomes European Sub 75874 T=0.84921 C=0.15079
gnomAD - Genomes African Sub 42004 T=0.96912 C=0.03088
gnomAD - Genomes American Sub 13644 T=0.83692 C=0.16308
gnomAD - Genomes Ashkenazi Jewish Sub 3318 T=0.8134 C=0.1866
gnomAD - Genomes East Asian Sub 3124 T=0.6213 C=0.3787
gnomAD - Genomes Other Sub 2142 T=0.8571 C=0.1429
14KJPN JAPANESE Study-wide 28258 T=0.64920 C=0.35080
8.3KJPN JAPANESE Study-wide 16760 T=0.65101 C=0.34899
1000Genomes_30x Global Study-wide 6404 T=0.8549 C=0.1451
1000Genomes_30x African Sub 1786 T=0.9950 C=0.0050
1000Genomes_30x Europe Sub 1266 T=0.8570 C=0.1430
1000Genomes_30x South Asian Sub 1202 T=0.8552 C=0.1448
1000Genomes_30x East Asian Sub 1170 T=0.6402 C=0.3598
1000Genomes_30x American Sub 980 T=0.853 C=0.147
1000Genomes Global Study-wide 5008 T=0.8492 C=0.1508
1000Genomes African Sub 1322 T=0.9955 C=0.0045
1000Genomes East Asian Sub 1008 T=0.6438 C=0.3562
1000Genomes Europe Sub 1006 T=0.8549 C=0.1451
1000Genomes South Asian Sub 978 T=0.857 C=0.143
1000Genomes American Sub 694 T=0.850 C=0.150
Genetic variation in the Estonian population Estonian Study-wide 4480 T=0.7933 C=0.2067
The Avon Longitudinal Study of Parents and Children PARENT AND CHILD COHORT Study-wide 3854 T=0.8474 C=0.1526
UK 10K study - Twins TWIN COHORT Study-wide 3708 T=0.8417 C=0.1583
KOREAN population from KRGDB KOREAN Study-wide 2930 T=0.6505 C=0.3495
HGDP-CEPH-db Supplement 1 Global Study-wide 2084 T=0.8196 C=0.1804
HGDP-CEPH-db Supplement 1 Est_Asia Sub 470 T=0.638 C=0.362
HGDP-CEPH-db Supplement 1 Central_South_Asia Sub 414 T=0.824 C=0.176
HGDP-CEPH-db Supplement 1 Middle_Est Sub 350 T=0.903 C=0.097
HGDP-CEPH-db Supplement 1 Europe Sub 320 T=0.844 C=0.156
HGDP-CEPH-db Supplement 1 Africa Sub 242 T=0.992 C=0.008
HGDP-CEPH-db Supplement 1 America Sub 216 T=0.843 C=0.157
HGDP-CEPH-db Supplement 1 Oceania Sub 72 T=0.82 C=0.18
HapMap Global Study-wide 1890 T=0.8577 C=0.1423
HapMap American Sub 768 T=0.806 C=0.194
HapMap African Sub 692 T=0.984 C=0.016
HapMap Asian Sub 254 T=0.650 C=0.350
HapMap Europe Sub 176 T=0.886 C=0.114
Korean Genome Project KOREAN Study-wide 1832 T=0.6321 C=0.3679
Genome of the Netherlands Release 5 Genome of the Netherlands Study-wide 998 T=0.859 C=0.141
Northern Sweden ACPOP Study-wide 600 T=0.867 C=0.133
Qatari Global Study-wide 216 T=0.958 C=0.042
A Vietnamese Genetic Variation Database Global Study-wide 216 T=0.685 C=0.315
SGDP_PRJ Global Study-wide 150 T=0.447 C=0.553
The Danish reference pan genome Danish Study-wide 40 T=0.82 C=0.17
Ancient Sardinia genome-wide 1240k capture data generation and analysis Global Study-wide 36 T=0.89 C=0.11
Siberian Global Study-wide 22 T=0.45 C=0.55
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 4 NC_000004.12:g.76151444T>C
GRCh37.p13 chr 4 NC_000004.11:g.77072597T>C
Gene: LOC124900718, uncharacterized LOC124900718 (plus strand)
Molecule type Change Amino acid[Codon] SO Term
LOC124900718 transcript XR_007058144.1:n.2292T>C N/A Non Coding Transcript 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 T= C
GRCh38.p14 chr 4 NC_000004.12:g.76151444= NC_000004.12:g.76151444T>C
GRCh37.p13 chr 4 NC_000004.11:g.77072597= NC_000004.11:g.77072597T>C
LOC124900718 transcript XR_007058144.1:n.2292= XR_007058144.1:n.2292T>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#.

105 SubSNP, 22 Frequency submissions
No Submitter Submission ID Date (Build)
1 WI_SSAHASNP ss13854892 Dec 05, 2003 (119)
2 SSAHASNP ss22184811 Apr 05, 2004 (121)
3 ABI ss42323657 Mar 15, 2006 (126)
4 ILLUMINA ss66792661 Nov 30, 2006 (127)
5 ILLUMINA ss66864137 Nov 30, 2006 (127)
6 ILLUMINA ss66933428 Nov 30, 2006 (127)
7 ILLUMINA ss70356063 May 17, 2007 (127)
8 ILLUMINA ss70459495 May 25, 2008 (130)
9 ILLUMINA ss70980067 May 17, 2007 (127)
10 ILLUMINA ss75852219 Dec 06, 2007 (129)
11 KRIBB_YJKIM ss84889030 Dec 15, 2007 (130)
12 HUMANGENOME_JCVI ss98972364 Feb 06, 2009 (130)
13 ILLUMINA ss121252367 Dec 01, 2009 (131)
14 ENSEMBL ss133399593 Dec 01, 2009 (131)
15 ILLUMINA ss152540201 Dec 01, 2009 (131)
16 ILLUMINA ss159103355 Dec 01, 2009 (131)
17 ILLUMINA ss159851095 Dec 01, 2009 (131)
18 ILLUMINA ss169208571 Jul 04, 2010 (132)
19 ILLUMINA ss169499754 Jul 04, 2010 (132)
20 1000GENOMES ss232452660 Jul 14, 2010 (132)
21 1000GENOMES ss239733192 Jul 15, 2010 (132)
22 GMI ss277784173 May 04, 2012 (137)
23 PJP ss293105292 May 09, 2011 (134)
24 ILLUMINA ss479154877 May 04, 2012 (137)
25 ILLUMINA ss479156542 May 04, 2012 (137)
26 ILLUMINA ss479471003 Sep 08, 2015 (146)
27 ILLUMINA ss484378647 May 04, 2012 (137)
28 ILLUMINA ss536564836 Sep 08, 2015 (146)
29 SSMP ss651422728 Apr 25, 2013 (138)
30 ILLUMINA ss778719449 Aug 21, 2014 (142)
31 ILLUMINA ss782635606 Aug 21, 2014 (142)
32 ILLUMINA ss783605152 Aug 21, 2014 (142)
33 ILLUMINA ss825325794 Jul 19, 2016 (147)
34 ILLUMINA ss831885687 Apr 01, 2015 (144)
35 ILLUMINA ss832616151 Aug 21, 2014 (142)
36 ILLUMINA ss833206840 Aug 21, 2014 (142)
37 ILLUMINA ss834178829 Aug 21, 2014 (142)
38 EVA-GONL ss980275277 Aug 21, 2014 (142)
39 JMKIDD_LAB ss1071659296 Aug 21, 2014 (142)
40 1000GENOMES ss1310342402 Aug 21, 2014 (142)
41 DDI ss1429932063 Apr 01, 2015 (144)
42 EVA_GENOME_DK ss1580621472 Apr 01, 2015 (144)
43 EVA_DECODE ss1589774495 Apr 01, 2015 (144)
44 EVA_UK10K_ALSPAC ss1610393195 Apr 01, 2015 (144)
45 EVA_UK10K_TWINSUK ss1653387228 Apr 01, 2015 (144)
46 EVA_SVP ss1712682188 Apr 01, 2015 (144)
47 ILLUMINA ss1752532111 Sep 08, 2015 (146)
48 WEILL_CORNELL_DGM ss1923517965 Feb 12, 2016 (147)
49 GENOMED ss1969779848 Jul 19, 2016 (147)
50 JJLAB ss2022344875 Sep 14, 2016 (149)
51 USC_VALOUEV ss2150473330 Dec 20, 2016 (150)
52 HUMAN_LONGEVITY ss2264081944 Dec 20, 2016 (150)
53 SYSTEMSBIOZJU ss2625672961 Nov 08, 2017 (151)
54 ILLUMINA ss2634136184 Nov 08, 2017 (151)
55 GRF ss2705947253 Nov 08, 2017 (151)
56 GNOMAD ss2811020311 Nov 08, 2017 (151)
57 SWEGEN ss2994947651 Nov 08, 2017 (151)
58 ILLUMINA ss3022385535 Nov 08, 2017 (151)
59 BIOINF_KMB_FNS_UNIBA ss3024946955 Nov 08, 2017 (151)
60 CSHL ss3345789125 Nov 08, 2017 (151)
61 ILLUMINA ss3628993716 Oct 12, 2018 (152)
62 ILLUMINA ss3632071618 Oct 12, 2018 (152)
63 ILLUMINA ss3633338718 Oct 12, 2018 (152)
64 ILLUMINA ss3634057847 Oct 12, 2018 (152)
65 ILLUMINA ss3634957270 Oct 12, 2018 (152)
66 ILLUMINA ss3635740680 Oct 12, 2018 (152)
67 ILLUMINA ss3636661002 Oct 12, 2018 (152)
68 ILLUMINA ss3637493203 Oct 12, 2018 (152)
69 ILLUMINA ss3638493476 Oct 12, 2018 (152)
70 ILLUMINA ss3639249347 Oct 12, 2018 (152)
71 ILLUMINA ss3639645833 Oct 12, 2018 (152)
72 ILLUMINA ss3640664564 Oct 12, 2018 (152)
73 ILLUMINA ss3643444245 Oct 12, 2018 (152)
74 URBANLAB ss3647767283 Oct 12, 2018 (152)
75 ILLUMINA ss3652870727 Oct 12, 2018 (152)
76 EGCUT_WGS ss3662830858 Jul 13, 2019 (153)
77 EVA_DECODE ss3712343206 Jul 13, 2019 (153)
78 ILLUMINA ss3726143837 Jul 13, 2019 (153)
79 ACPOP ss3731283112 Jul 13, 2019 (153)
80 ILLUMINA ss3745257534 Jul 13, 2019 (153)
81 EVA ss3761979470 Jul 13, 2019 (153)
82 ILLUMINA ss3772752136 Jul 13, 2019 (153)
83 KHV_HUMAN_GENOMES ss3805121134 Jul 13, 2019 (153)
84 EVA ss3828620749 Apr 26, 2020 (154)
85 HGDP ss3847754212 Apr 26, 2020 (154)
86 SGDP_PRJ ss3859273681 Apr 26, 2020 (154)
87 KRGDB ss3905532115 Apr 26, 2020 (154)
88 KOGIC ss3954453048 Apr 26, 2020 (154)
89 EVA ss3985076660 Apr 26, 2021 (155)
90 EVA ss4017152050 Apr 26, 2021 (155)
91 TOPMED ss4619018209 Apr 26, 2021 (155)
92 TOMMO_GENOMICS ss5166378634 Apr 26, 2021 (155)
93 1000G_HIGH_COVERAGE ss5259729254 Oct 13, 2022 (156)
94 EVA ss5314967518 Oct 13, 2022 (156)
95 HUGCELL_USP ss5458430224 Oct 13, 2022 (156)
96 EVA ss5507576652 Oct 13, 2022 (156)
97 1000G_HIGH_COVERAGE ss5541097104 Oct 13, 2022 (156)
98 SANFORD_IMAGENETICS ss5635341717 Oct 13, 2022 (156)
99 TOMMO_GENOMICS ss5700909477 Oct 13, 2022 (156)
100 EVA ss5799618324 Oct 13, 2022 (156)
101 YY_MCH ss5805218370 Oct 13, 2022 (156)
102 EVA ss5844201720 Oct 13, 2022 (156)
103 EVA ss5854290336 Oct 13, 2022 (156)
104 EVA ss5864039604 Oct 13, 2022 (156)
105 EVA ss5963719222 Oct 13, 2022 (156)
106 1000Genomes NC_000004.11 - 77072597 Oct 12, 2018 (152)
107 1000Genomes_30x NC_000004.12 - 76151444 Oct 13, 2022 (156)
108 The Avon Longitudinal Study of Parents and Children NC_000004.11 - 77072597 Oct 12, 2018 (152)
109 Genetic variation in the Estonian population NC_000004.11 - 77072597 Oct 12, 2018 (152)
110 The Danish reference pan genome NC_000004.11 - 77072597 Apr 26, 2020 (154)
111 gnomAD - Genomes NC_000004.12 - 76151444 Apr 26, 2021 (155)
112 Genome of the Netherlands Release 5 NC_000004.11 - 77072597 Apr 26, 2020 (154)
113 HGDP-CEPH-db Supplement 1 NC_000004.10 - 77291621 Apr 26, 2020 (154)
114 HapMap NC_000004.12 - 76151444 Apr 26, 2020 (154)
115 KOREAN population from KRGDB NC_000004.11 - 77072597 Apr 26, 2020 (154)
116 Korean Genome Project NC_000004.12 - 76151444 Apr 26, 2020 (154)
117 Northern Sweden NC_000004.11 - 77072597 Jul 13, 2019 (153)
118 Ancient Sardinia genome-wide 1240k capture data generation and analysis NC_000004.11 - 77072597 Apr 26, 2021 (155)
119 Qatari NC_000004.11 - 77072597 Apr 26, 2020 (154)
120 SGDP_PRJ NC_000004.11 - 77072597 Apr 26, 2020 (154)
121 Siberian NC_000004.11 - 77072597 Apr 26, 2020 (154)
122 8.3KJPN NC_000004.11 - 77072597 Apr 26, 2021 (155)
123 14KJPN NC_000004.12 - 76151444 Oct 13, 2022 (156)
124 TopMed NC_000004.12 - 76151444 Apr 26, 2021 (155)
125 UK 10K study - Twins NC_000004.11 - 77072597 Oct 12, 2018 (152)
126 A Vietnamese Genetic Variation Database NC_000004.11 - 77072597 Jul 13, 2019 (153)
127 ALFA NC_000004.12 - 76151444 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)
rs60216949 May 25, 2008 (130)
Added to this RefSNP Cluster:
Submission IDs Observation SPDI Canonical SPDI Source RSIDs
ss3639249347, ss3639645833 NC_000004.9:77429775:T:C NC_000004.12:76151443:T:C (self)
432104, ss159851095, ss277784173, ss293105292, ss479154877, ss825325794, ss1589774495, ss1712682188, ss3643444245, ss3847754212 NC_000004.10:77291620:T:C NC_000004.12:76151443:T:C (self)
21759549, 12095714, 8569106, 6786411, 5342940, 12709509, 4567977, 302587, 5559895, 11290661, 2989684, 24347941, 12095714, 2663842, ss232452660, ss239733192, ss479156542, ss479471003, ss484378647, ss536564836, ss651422728, ss778719449, ss782635606, ss783605152, ss831885687, ss832616151, ss833206840, ss834178829, ss980275277, ss1071659296, ss1310342402, ss1429932063, ss1580621472, ss1610393195, ss1653387228, ss1752532111, ss1923517965, ss1969779848, ss2022344875, ss2150473330, ss2625672961, ss2634136184, ss2705947253, ss2811020311, ss2994947651, ss3022385535, ss3345789125, ss3628993716, ss3632071618, ss3633338718, ss3634057847, ss3634957270, ss3635740680, ss3636661002, ss3637493203, ss3638493476, ss3640664564, ss3652870727, ss3662830858, ss3731283112, ss3745257534, ss3761979470, ss3772752136, ss3828620749, ss3859273681, ss3905532115, ss3985076660, ss4017152050, ss5166378634, ss5314967518, ss5507576652, ss5635341717, ss5799618324, ss5844201720, ss5963719222 NC_000004.11:77072596:T:C NC_000004.12:76151443:T:C (self)
28623039, 154141591, 2640996, 10831049, 34746581, 456395765, 6096073796, ss2264081944, ss3024946955, ss3647767283, ss3712343206, ss3726143837, ss3805121134, ss3954453048, ss4619018209, ss5259729254, ss5458430224, ss5541097104, ss5700909477, ss5805218370, ss5854290336, ss5864039604 NC_000004.12:76151443:T:C NC_000004.12:76151443:T:C (self)
ss13854892, ss22184811 NT_016354.16:1567301:T:C NC_000004.12:76151443:T:C (self)
ss42323657, ss66792661, ss66864137, ss66933428, ss70356063, ss70459495, ss70980067, ss75852219, ss84889030, ss98972364, ss121252367, ss133399593, ss152540201, ss159103355, ss169208571, ss169499754 NT_016354.19:1620317:T:C NC_000004.12:76151443:T: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 rs10008834

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