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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.

rs1316506

Current Build 156

Released September 21, 2022

Organism
Homo sapiens
Position
chr14:92918108 (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>T
Variation Type
SNV Single Nucleotide Variation
Frequency
A=0.046491 (6514/140112, GnomAD)
A=0.04684 (1421/30336, ALFA)
A=0.0317 (203/6404, 1000G_30x) (+ 17 more)
A=0.0321 (161/5008, 1000G)
A=0.1100 (493/4480, Estonian)
A=0.0592 (228/3854, ALSPAC)
A=0.0655 (243/3708, TWINSUK)
A=0.0003 (1/2920, KOREAN)
A=0.0230 (48/2084, HGDP_Stanford)
A=0.0369 (59/1598, HapMap)
A=0.063 (63/998, GoNL)
A=0.001 (1/790, PRJEB37584)
A=0.072 (43/600, NorthernSweden)
A=0.019 (4/216, Qatari)
A=0.078 (8/102, Ancient Sardinia)
A=0.07 (3/40, GENOME_DK)
G=0.50 (11/22, SGDP_PRJ)
A=0.50 (11/22, SGDP_PRJ)
G=0.5 (3/6, Siberian)
A=0.5 (3/6, Siberian)
Clinical Significance
Not Reported in ClinVar
Gene : Consequence
None
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 30336 G=0.95316 A=0.04684, T=0.00000
European Sub 24650 G=0.94434 A=0.05566, T=0.00000
African Sub 3070 G=0.9984 A=0.0016, T=0.0000
African Others Sub 134 G=1.000 A=0.000, T=0.000
African American Sub 2936 G=0.9983 A=0.0017, T=0.0000
Asian Sub 124 G=1.000 A=0.000, T=0.000
East Asian Sub 92 G=1.00 A=0.00, T=0.00
Other Asian Sub 32 G=1.00 A=0.00, T=0.00
Latin American 1 Sub 222 G=0.986 A=0.014, T=0.000
Latin American 2 Sub 1138 G=0.9851 A=0.0149, T=0.0000
South Asian Sub 108 G=1.000 A=0.000, T=0.000
Other Sub 1024 G=0.9766 A=0.0234, T=0.0000


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
gnomAD - Genomes Global Study-wide 140112 G=0.953509 A=0.046491
gnomAD - Genomes European Sub 75878 G=0.93064 A=0.06936
gnomAD - Genomes African Sub 41988 G=0.98847 A=0.01153
gnomAD - Genomes American Sub 13642 G=0.96379 A=0.03621
gnomAD - Genomes Ashkenazi Jewish Sub 3322 G=0.9413 A=0.0587
gnomAD - Genomes East Asian Sub 3132 G=0.9990 A=0.0010
gnomAD - Genomes Other Sub 2150 G=0.9651 A=0.0349
Allele Frequency Aggregator Total Global 30336 G=0.95316 A=0.04684, T=0.00000
Allele Frequency Aggregator European Sub 24650 G=0.94434 A=0.05566, T=0.00000
Allele Frequency Aggregator African Sub 3070 G=0.9984 A=0.0016, T=0.0000
Allele Frequency Aggregator Latin American 2 Sub 1138 G=0.9851 A=0.0149, T=0.0000
Allele Frequency Aggregator Other Sub 1024 G=0.9766 A=0.0234, T=0.0000
Allele Frequency Aggregator Latin American 1 Sub 222 G=0.986 A=0.014, T=0.000
Allele Frequency Aggregator Asian Sub 124 G=1.000 A=0.000, T=0.000
Allele Frequency Aggregator South Asian Sub 108 G=1.000 A=0.000, T=0.000
1000Genomes_30x Global Study-wide 6404 G=0.9683 A=0.0317
1000Genomes_30x African Sub 1786 G=1.0000 A=0.0000
1000Genomes_30x Europe Sub 1266 G=0.9186 A=0.0814
1000Genomes_30x South Asian Sub 1202 G=0.9459 A=0.0541
1000Genomes_30x East Asian Sub 1170 G=0.9983 A=0.0017
1000Genomes_30x American Sub 980 G=0.966 A=0.034
1000Genomes Global Study-wide 5008 G=0.9679 A=0.0321
1000Genomes African Sub 1322 G=1.0000 A=0.0000
1000Genomes East Asian Sub 1008 G=0.9990 A=0.0010
1000Genomes Europe Sub 1006 G=0.9175 A=0.0825
1000Genomes South Asian Sub 978 G=0.945 A=0.055
1000Genomes American Sub 694 G=0.967 A=0.033
Genetic variation in the Estonian population Estonian Study-wide 4480 G=0.8900 A=0.1100
The Avon Longitudinal Study of Parents and Children PARENT AND CHILD COHORT Study-wide 3854 G=0.9408 A=0.0592
UK 10K study - Twins TWIN COHORT Study-wide 3708 G=0.9345 A=0.0655
KOREAN population from KRGDB KOREAN Study-wide 2920 G=0.9997 A=0.0003
HGDP-CEPH-db Supplement 1 Global Study-wide 2084 G=0.9770 A=0.0230
HGDP-CEPH-db Supplement 1 Est_Asia Sub 470 G=1.000 A=0.000
HGDP-CEPH-db Supplement 1 Central_South_Asia Sub 414 G=0.949 A=0.051
HGDP-CEPH-db Supplement 1 Middle_Est Sub 350 G=0.977 A=0.023
HGDP-CEPH-db Supplement 1 Europe Sub 320 G=0.941 A=0.059
HGDP-CEPH-db Supplement 1 Africa Sub 242 G=1.000 A=0.000
HGDP-CEPH-db Supplement 1 America Sub 216 G=1.000 A=0.000
HGDP-CEPH-db Supplement 1 Oceania Sub 72 G=1.00 A=0.00
HapMap Global Study-wide 1598 G=0.9631 A=0.0369
HapMap American Sub 766 G=0.939 A=0.061
HapMap African Sub 406 G=0.993 A=0.007
HapMap Asian Sub 250 G=0.988 A=0.012
HapMap Europe Sub 176 G=0.966 A=0.034
Genome of the Netherlands Release 5 Genome of the Netherlands Study-wide 998 G=0.937 A=0.063
CNV burdens in cranial meningiomas Global Study-wide 790 G=0.999 A=0.001
CNV burdens in cranial meningiomas CRM Sub 790 G=0.999 A=0.001
Northern Sweden ACPOP Study-wide 600 G=0.928 A=0.072
Qatari Global Study-wide 216 G=0.981 A=0.019
Ancient Sardinia genome-wide 1240k capture data generation and analysis Global Study-wide 102 G=0.922 A=0.078
The Danish reference pan genome Danish Study-wide 40 G=0.93 A=0.07
SGDP_PRJ Global Study-wide 22 G=0.50 A=0.50
Siberian Global Study-wide 6 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 14 NC_000014.9:g.92918108G>A
GRCh38.p14 chr 14 NC_000014.9:g.92918108G>T
GRCh38.p14 chr 14 alt locus HSCHR14_7_CTG1 NT_187601.1:g.32670G>A
GRCh38.p14 chr 14 alt locus HSCHR14_7_CTG1 NT_187601.1:g.32670G>T
GRCh37.p13 chr 14 NC_000014.8:g.93384453G>A
GRCh37.p13 chr 14 NC_000014.8:g.93384453G>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
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 T
GRCh38.p14 chr 14 NC_000014.9:g.92918108= NC_000014.9:g.92918108G>A NC_000014.9:g.92918108G>T
GRCh38.p14 chr 14 alt locus HSCHR14_7_CTG1 NT_187601.1:g.32670= NT_187601.1:g.32670G>A NT_187601.1:g.32670G>T
GRCh37.p13 chr 14 NC_000014.8:g.93384453= NC_000014.8:g.93384453G>A NC_000014.8:g.93384453G>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#.

67 SubSNP, 20 Frequency submissions
No Submitter Submission ID Date (Build)
1 TSC-CSHL ss2075570 Oct 23, 2000 (88)
2 ILLUMINA ss66552512 Dec 01, 2006 (127)
3 ILLUMINA ss67061303 Dec 01, 2006 (127)
4 ILLUMINA ss67389119 Dec 01, 2006 (127)
5 ILLUMINA ss70419952 May 17, 2007 (127)
6 ILLUMINA ss70596143 May 25, 2008 (130)
7 ILLUMINA ss71140589 May 17, 2007 (127)
8 ILLUMINA ss75679614 Dec 06, 2007 (129)
9 KRIBB_YJKIM ss83715772 Dec 15, 2007 (130)
10 ILLUMINA ss121623511 Dec 01, 2009 (131)
11 ILLUMINA ss153326357 Dec 01, 2009 (131)
12 ILLUMINA ss159247149 Dec 01, 2009 (131)
13 ILLUMINA ss170303876 Jul 04, 2010 (132)
14 ILLUMINA ss172342195 Jul 04, 2010 (132)
15 1000GENOMES ss210866055 Jul 14, 2010 (132)
16 1000GENOMES ss236656185 Jul 15, 2010 (132)
17 BL ss255205896 May 09, 2011 (134)
18 ILLUMINA ss536835698 Sep 08, 2015 (146)
19 ILLUMINA ss825389226 Apr 01, 2015 (144)
20 ILLUMINA ss832759434 Jul 13, 2019 (153)
21 EVA-GONL ss991453806 Aug 21, 2014 (142)
22 JMKIDD_LAB ss1079886895 Aug 21, 2014 (142)
23 1000GENOMES ss1352164782 Aug 21, 2014 (142)
24 EVA_GENOME_DK ss1577434289 Apr 01, 2015 (144)
25 EVA_UK10K_ALSPAC ss1632361349 Apr 01, 2015 (144)
26 EVA_UK10K_TWINSUK ss1675355382 Apr 01, 2015 (144)
27 EVA_DECODE ss1695467998 Apr 01, 2015 (144)
28 EVA_SVP ss1713466900 Apr 01, 2015 (144)
29 WEILL_CORNELL_DGM ss1934824251 Feb 12, 2016 (147)
30 JJLAB ss2028196214 Sep 14, 2016 (149)
31 USC_VALOUEV ss2156579657 Dec 20, 2016 (150)
32 HUMAN_LONGEVITY ss2204389098 Dec 20, 2016 (150)
33 GNOMAD ss2930984123 Nov 08, 2017 (151)
34 SWEGEN ss3012675595 Nov 08, 2017 (151)
35 BIOINF_KMB_FNS_UNIBA ss3027925545 Nov 08, 2017 (151)
36 ILLUMINA ss3627287655 Oct 12, 2018 (152)
37 ILLUMINA ss3638067188 Oct 12, 2018 (152)
38 ILLUMINA ss3639047291 Oct 12, 2018 (152)
39 ILLUMINA ss3639528630 Oct 12, 2018 (152)
40 ILLUMINA ss3643052706 Oct 12, 2018 (152)
41 EGCUT_WGS ss3679940494 Jul 13, 2019 (153)
42 EVA_DECODE ss3697257767 Jul 13, 2019 (153)
43 ACPOP ss3740641199 Jul 13, 2019 (153)
44 EVA ss3752683494 Jul 13, 2019 (153)
45 KHV_HUMAN_GENOMES ss3818010579 Jul 13, 2019 (153)
46 EVA ss3834070309 Apr 27, 2020 (154)
47 EVA ss3840626658 Apr 27, 2020 (154)
48 EVA ss3846116951 Apr 27, 2020 (154)
49 HGDP ss3847513425 Apr 27, 2020 (154)
50 SGDP_PRJ ss3882117718 Apr 27, 2020 (154)
51 KRGDB ss3931198616 Apr 27, 2020 (154)
52 EVA ss3984696199 Apr 26, 2021 (155)
53 EVA ss3985697820 Apr 26, 2021 (155)
54 EVA ss4017685674 Apr 26, 2021 (155)
55 VINODS ss4031544587 Apr 26, 2021 (155)
56 TOPMED ss4980631706 Apr 26, 2021 (155)
57 TOPMED ss4980631707 Apr 26, 2021 (155)
58 1000G_HIGH_COVERAGE ss5297243167 Oct 16, 2022 (156)
59 EVA ss5417119106 Oct 16, 2022 (156)
60 HUGCELL_USP ss5491191569 Oct 16, 2022 (156)
61 EVA ss5511345310 Oct 16, 2022 (156)
62 1000G_HIGH_COVERAGE ss5598037526 Oct 16, 2022 (156)
63 SANFORD_IMAGENETICS ss5656799346 Oct 16, 2022 (156)
64 EVA ss5841513609 Oct 16, 2022 (156)
65 EVA ss5902515403 Oct 16, 2022 (156)
66 EVA ss5948262334 Oct 16, 2022 (156)
67 EVA ss5980844891 Oct 16, 2022 (156)
68 1000Genomes NC_000014.8 - 93384453 Oct 12, 2018 (152)
69 1000Genomes_30x NC_000014.9 - 92918108 Oct 16, 2022 (156)
70 The Avon Longitudinal Study of Parents and Children NC_000014.8 - 93384453 Oct 12, 2018 (152)
71 Genetic variation in the Estonian population NC_000014.8 - 93384453 Oct 12, 2018 (152)
72 The Danish reference pan genome NC_000014.8 - 93384453 Apr 27, 2020 (154)
73 gnomAD - Genomes NC_000014.9 - 92918108 Apr 26, 2021 (155)
74 Genome of the Netherlands Release 5 NC_000014.8 - 93384453 Apr 27, 2020 (154)
75 HGDP-CEPH-db Supplement 1 NC_000014.7 - 92454206 Apr 27, 2020 (154)
76 HapMap NC_000014.9 - 92918108 Apr 27, 2020 (154)
77 KOREAN population from KRGDB NC_000014.8 - 93384453 Apr 27, 2020 (154)
78 Northern Sweden NC_000014.8 - 93384453 Jul 13, 2019 (153)
79 Ancient Sardinia genome-wide 1240k capture data generation and analysis NC_000014.8 - 93384453 Apr 26, 2021 (155)
80 CNV burdens in cranial meningiomas NC_000014.8 - 93384453 Apr 26, 2021 (155)
81 Qatari NC_000014.8 - 93384453 Apr 27, 2020 (154)
82 SGDP_PRJ NC_000014.8 - 93384453 Apr 27, 2020 (154)
83 Siberian NC_000014.8 - 93384453 Apr 27, 2020 (154)
84 TopMed

Submission ignored due to conflicting rows:
Row 196177365 (NC_000014.9:92918107:G:A 10296/264690)
Row 196177366 (NC_000014.9:92918107:G:T 1/264690)

- Apr 26, 2021 (155)
85 TopMed

Submission ignored due to conflicting rows:
Row 196177365 (NC_000014.9:92918107:G:A 10296/264690)
Row 196177366 (NC_000014.9:92918107:G:T 1/264690)

- Apr 26, 2021 (155)
86 UK 10K study - Twins NC_000014.8 - 93384453 Oct 12, 2018 (152)
87 ALFA NC_000014.9 - 92918108 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)
rs58969960 May 25, 2008 (130)
Added to this RefSNP Cluster:
Submission IDs Observation SPDI Canonical SPDI Source RSIDs
191317, ss210866055, ss255205896, ss825389226, ss1695467998, ss1713466900, ss3639047291, ss3639528630, ss3643052706, ss3847513425 NC_000014.7:92454205:G:A NC_000014.9:92918107:G:A (self)
65189771, 36234059, 25678742, 3725530, 16176435, 38376010, 13926064, 923747, 245717, 16866181, 34134698, 9096011, 36234059, ss236656185, ss536835698, ss832759434, ss991453806, ss1079886895, ss1352164782, ss1577434289, ss1632361349, ss1675355382, ss1934824251, ss2028196214, ss2156579657, ss2930984123, ss3012675595, ss3627287655, ss3638067188, ss3679940494, ss3740641199, ss3752683494, ss3834070309, ss3840626658, ss3882117718, ss3931198616, ss3984696199, ss3985697820, ss4017685674, ss5417119106, ss5511345310, ss5656799346, ss5841513609, ss5948262334, ss5980844891 NC_000014.8:93384452:G:A NC_000014.9:92918107:G:A (self)
85563461, 459565503, 1204000, 2845458232, ss2204389098, ss3027925545, ss3697257767, ss3818010579, ss3846116951, ss4980631706, ss5297243167, ss5491191569, ss5598037526, ss5902515403 NC_000014.9:92918107:G:A NC_000014.9:92918107:G:A (self)
ss2075570, ss66552512, ss67061303, ss67389119, ss70419952, ss70596143, ss71140589, ss75679614, ss83715772, ss121623511, ss153326357, ss159247149, ss170303876, ss172342195 NT_026437.12:74384452:G:A NC_000014.9:92918107:G:A (self)
ss4031544587 NT_187601.1:32669:G:A NC_000014.9:92918107:G:A (self)
2845458232, ss4980631707 NC_000014.9:92918107:G:T NC_000014.9:92918107:G: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 rs1316506

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