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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.

rs8095147

Current Build 156

Released September 21, 2022

Organism
Homo sapiens
Position
chr18:52851981 (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
Variation Type
SNV Single Nucleotide Variation
Frequency
A=0.481782 (127523/264690, TOPMED)
A=0.483391 (67581/139806, GnomAD)
A=0.36881 (10421/28256, 14KJPN) (+ 17 more)
A=0.47390 (8952/18890, ALFA)
A=0.36639 (6140/16758, 8.3KJPN)
A=0.4852 (3107/6404, 1000G_30x)
A=0.4844 (2426/5008, 1000G)
A=0.4549 (2038/4480, Estonian)
A=0.4847 (1868/3854, ALSPAC)
A=0.4717 (1749/3708, TWINSUK)
A=0.3505 (1027/2930, KOREAN)
A=0.3723 (682/1832, Korea1K)
A=0.470 (469/998, GoNL)
A=0.405 (243/600, NorthernSweden)
G=0.333 (139/418, SGDP_PRJ)
A=0.481 (104/216, Qatari)
A=0.322 (69/214, Vietnamese)
A=0.300 (51/170, HapMap)
G=0.45 (18/40, GENOME_DK)
G=0.24 (9/38, Siberian)
Clinical Significance
Not Reported in ClinVar
Gene : Consequence
DCC : 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 18890 G=0.52610 A=0.47390
European Sub 14286 G=0.53654 A=0.46346
African Sub 2946 G=0.4779 A=0.5221
African Others Sub 114 G=0.526 A=0.474
African American Sub 2832 G=0.4760 A=0.5240
Asian Sub 112 G=0.679 A=0.321
East Asian Sub 86 G=0.71 A=0.29
Other Asian Sub 26 G=0.58 A=0.42
Latin American 1 Sub 146 G=0.548 A=0.452
Latin American 2 Sub 610 G=0.495 A=0.505
South Asian Sub 98 G=0.49 A=0.51
Other Sub 692 G=0.519 A=0.481


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=0.518218 A=0.481782
gnomAD - Genomes Global Study-wide 139806 G=0.516609 A=0.483391
gnomAD - Genomes European Sub 75724 G=0.52431 A=0.47569
gnomAD - Genomes African Sub 41894 G=0.48890 A=0.51110
gnomAD - Genomes American Sub 13604 G=0.51169 A=0.48831
gnomAD - Genomes Ashkenazi Jewish Sub 3314 G=0.5549 A=0.4451
gnomAD - Genomes East Asian Sub 3120 G=0.6625 A=0.3375
gnomAD - Genomes Other Sub 2150 G=0.5456 A=0.4544
14KJPN JAPANESE Study-wide 28256 G=0.63119 A=0.36881
Allele Frequency Aggregator Total Global 18890 G=0.52610 A=0.47390
Allele Frequency Aggregator European Sub 14286 G=0.53654 A=0.46346
Allele Frequency Aggregator African Sub 2946 G=0.4779 A=0.5221
Allele Frequency Aggregator Other Sub 692 G=0.519 A=0.481
Allele Frequency Aggregator Latin American 2 Sub 610 G=0.495 A=0.505
Allele Frequency Aggregator Latin American 1 Sub 146 G=0.548 A=0.452
Allele Frequency Aggregator Asian Sub 112 G=0.679 A=0.321
Allele Frequency Aggregator South Asian Sub 98 G=0.49 A=0.51
8.3KJPN JAPANESE Study-wide 16758 G=0.63361 A=0.36639
1000Genomes_30x Global Study-wide 6404 G=0.5148 A=0.4852
1000Genomes_30x African Sub 1786 G=0.4552 A=0.5448
1000Genomes_30x Europe Sub 1266 G=0.5387 A=0.4613
1000Genomes_30x South Asian Sub 1202 G=0.4609 A=0.5391
1000Genomes_30x East Asian Sub 1170 G=0.6556 A=0.3444
1000Genomes_30x American Sub 980 G=0.491 A=0.509
1000Genomes Global Study-wide 5008 G=0.5156 A=0.4844
1000Genomes African Sub 1322 G=0.4546 A=0.5454
1000Genomes East Asian Sub 1008 G=0.6558 A=0.3442
1000Genomes Europe Sub 1006 G=0.5278 A=0.4722
1000Genomes South Asian Sub 978 G=0.467 A=0.533
1000Genomes American Sub 694 G=0.478 A=0.522
Genetic variation in the Estonian population Estonian Study-wide 4480 G=0.5451 A=0.4549
The Avon Longitudinal Study of Parents and Children PARENT AND CHILD COHORT Study-wide 3854 G=0.5153 A=0.4847
UK 10K study - Twins TWIN COHORT Study-wide 3708 G=0.5283 A=0.4717
KOREAN population from KRGDB KOREAN Study-wide 2930 G=0.6495 A=0.3505
Korean Genome Project KOREAN Study-wide 1832 G=0.6277 A=0.3723
Genome of the Netherlands Release 5 Genome of the Netherlands Study-wide 998 G=0.530 A=0.470
Northern Sweden ACPOP Study-wide 600 G=0.595 A=0.405
SGDP_PRJ Global Study-wide 418 G=0.333 A=0.667
Qatari Global Study-wide 216 G=0.519 A=0.481
A Vietnamese Genetic Variation Database Global Study-wide 214 G=0.678 A=0.322
HapMap Global Study-wide 170 G=0.700 A=0.300
HapMap American Sub 102 G=0.735 A=0.265
HapMap Asian Sub 68 G=0.65 A=0.35
The Danish reference pan genome Danish Study-wide 40 G=0.45 A=0.55
Siberian Global Study-wide 38 G=0.24 A=0.76
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 18 NC_000018.10:g.52851981G>A
GRCh37.p13 chr 18 NC_000018.9:g.50378351G>A
DCC RefSeqGene (LRG_1107) NG_013341.2:g.516810G>A
Gene: DCC, DCC netrin 1 receptor (plus strand)
Molecule type Change Amino acid[Codon] SO Term
DCC transcript NM_005215.4:c.413-54063G>A N/A Intron Variant
DCC transcript variant X1 XM_017025568.2:c.413-5406…

XM_017025568.2:c.413-54063G>A

 		N/A Intron Variant
DCC transcript variant X2 XM_017025569.2:c.413-5406…

XM_017025569.2:c.413-54063G>A

 		N/A Intron Variant
DCC transcript variant X3 XM_047437311.1:c.413-5406…

XM_047437311.1:c.413-54063G>A

 		N/A Intron Variant
DCC transcript variant X4 XM_011525844.3:c. N/A Genic Upstream 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 G= A
GRCh38.p14 chr 18 NC_000018.10:g.52851981= NC_000018.10:g.52851981G>A
GRCh37.p13 chr 18 NC_000018.9:g.50378351= NC_000018.9:g.50378351G>A
DCC RefSeqGene (LRG_1107) NG_013341.2:g.516810= NG_013341.2:g.516810G>A
DCC transcript NM_005215.3:c.413-54063= NM_005215.3:c.413-54063G>A
DCC transcript NM_005215.4:c.413-54063= NM_005215.4:c.413-54063G>A
DCC transcript variant X1 XM_005258204.1:c.413-54063= XM_005258204.1:c.413-54063G>A
DCC transcript variant X1 XM_017025568.2:c.413-54063= XM_017025568.2:c.413-54063G>A
DCC transcript variant X2 XM_017025569.2:c.413-54063= XM_017025569.2:c.413-54063G>A
DCC transcript variant X3 XM_047437311.1:c.413-54063= XM_047437311.1:c.413-54063G>A
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#.

69 SubSNP, 20 Frequency submissions
No Submitter Submission ID Date (Build)
1 WI_SSAHASNP ss12440480 Jul 11, 2003 (116)
2 CSHL-HAPMAP ss17599284 Feb 27, 2004 (120)
3 SSAHASNP ss21487075 Apr 05, 2004 (121)
4 ABI ss44072530 Mar 13, 2006 (126)
5 PERLEGEN ss69215039 May 18, 2007 (127)
6 HGSV ss80405899 Dec 14, 2007 (130)
7 HGSV ss84667693 Dec 14, 2007 (130)
8 HUMANGENOME_JCVI ss96512640 Feb 04, 2009 (130)
9 1000GENOMES ss110556626 Jan 25, 2009 (130)
10 1000GENOMES ss114417548 Jan 25, 2009 (130)
11 ILLUMINA-UK ss117881272 Feb 14, 2009 (130)
12 ENSEMBL ss136404984 Dec 01, 2009 (131)
13 COMPLETE_GENOMICS ss169851886 Jul 04, 2010 (132)
14 BUSHMAN ss203293000 Jul 04, 2010 (132)
15 BCM-HGSC-SUB ss208241006 Jul 04, 2010 (132)
16 1000GENOMES ss227879227 Jul 14, 2010 (132)
17 1000GENOMES ss237480045 Jul 15, 2010 (132)
18 1000GENOMES ss243727111 Jul 15, 2010 (132)
19 GMI ss283003951 May 04, 2012 (137)
20 GMI ss287288658 Apr 25, 2013 (138)
21 PJP ss292075450 May 09, 2011 (134)
22 TISHKOFF ss565662815 Apr 25, 2013 (138)
23 SSMP ss661496860 Apr 25, 2013 (138)
24 EVA-GONL ss993765651 Aug 21, 2014 (142)
25 JMKIDD_LAB ss1081527858 Aug 21, 2014 (142)
26 1000GENOMES ss1361174033 Aug 21, 2014 (142)
27 DDI ss1428228167 Apr 01, 2015 (144)
28 EVA_GENOME_DK ss1578418940 Apr 01, 2015 (144)
29 EVA_UK10K_ALSPAC ss1636956031 Apr 01, 2015 (144)
30 EVA_UK10K_TWINSUK ss1679950064 Apr 01, 2015 (144)
31 EVA_DECODE ss1697826296 Apr 01, 2015 (144)
32 HAMMER_LAB ss1809066897 Sep 08, 2015 (146)
33 WEILL_CORNELL_DGM ss1937233231 Feb 12, 2016 (147)
34 GENOMED ss1968532451 Jul 19, 2016 (147)
35 JJLAB ss2029386553 Sep 14, 2016 (149)
36 USC_VALOUEV ss2157893125 Dec 20, 2016 (150)
37 HUMAN_LONGEVITY ss2221881096 Dec 20, 2016 (150)
38 SYSTEMSBIOZJU ss2629191251 Nov 08, 2017 (151)
39 GRF ss2702482979 Nov 08, 2017 (151)
40 GNOMAD ss2957103855 Nov 08, 2017 (151)
41 SWEGEN ss3016586055 Nov 08, 2017 (151)
42 BIOINF_KMB_FNS_UNIBA ss3028522250 Nov 08, 2017 (151)
43 CSHL ss3352039545 Nov 08, 2017 (151)
44 URBANLAB ss3650798210 Oct 12, 2018 (152)
45 EGCUT_WGS ss3683430015 Jul 13, 2019 (153)
46 EVA_DECODE ss3701731669 Jul 13, 2019 (153)
47 ACPOP ss3742574712 Jul 13, 2019 (153)
48 EVA ss3755436322 Jul 13, 2019 (153)
49 PACBIO ss3788380455 Jul 13, 2019 (153)
50 PACBIO ss3793310374 Jul 13, 2019 (153)
51 PACBIO ss3798196740 Jul 13, 2019 (153)
52 KHV_HUMAN_GENOMES ss3820693922 Jul 13, 2019 (153)
53 EVA ss3835187417 Apr 27, 2020 (154)
54 SGDP_PRJ ss3887094857 Apr 27, 2020 (154)
55 KRGDB ss3936975047 Apr 27, 2020 (154)
56 KOGIC ss3980219063 Apr 27, 2020 (154)
57 TOPMED ss5058010592 Apr 26, 2021 (155)
58 TOMMO_GENOMICS ss5225336709 Apr 26, 2021 (155)
59 1000G_HIGH_COVERAGE ss5305421014 Oct 16, 2022 (156)
60 HUGCELL_USP ss5498178103 Oct 16, 2022 (156)
61 EVA ss5511951520 Oct 16, 2022 (156)
62 1000G_HIGH_COVERAGE ss5610331234 Oct 16, 2022 (156)
63 SANFORD_IMAGENETICS ss5661367481 Oct 16, 2022 (156)
64 TOMMO_GENOMICS ss5783175536 Oct 16, 2022 (156)
65 YY_MCH ss5817129663 Oct 16, 2022 (156)
66 EVA ss5827594898 Oct 16, 2022 (156)
67 EVA ss5852068973 Oct 16, 2022 (156)
68 EVA ss5874233281 Oct 16, 2022 (156)
69 EVA ss5952788258 Oct 16, 2022 (156)
70 1000Genomes NC_000018.9 - 50378351 Oct 12, 2018 (152)
71 1000Genomes_30x NC_000018.10 - 52851981 Oct 16, 2022 (156)
72 The Avon Longitudinal Study of Parents and Children NC_000018.9 - 50378351 Oct 12, 2018 (152)
73 Genetic variation in the Estonian population NC_000018.9 - 50378351 Oct 12, 2018 (152)
74 The Danish reference pan genome NC_000018.9 - 50378351 Apr 27, 2020 (154)
75 gnomAD - Genomes NC_000018.10 - 52851981 Apr 26, 2021 (155)
76 Genome of the Netherlands Release 5 NC_000018.9 - 50378351 Apr 27, 2020 (154)
77 HapMap NC_000018.10 - 52851981 Apr 27, 2020 (154)
78 KOREAN population from KRGDB NC_000018.9 - 50378351 Apr 27, 2020 (154)
79 Korean Genome Project NC_000018.10 - 52851981 Apr 27, 2020 (154)
80 Northern Sweden NC_000018.9 - 50378351 Jul 13, 2019 (153)
81 Qatari NC_000018.9 - 50378351 Apr 27, 2020 (154)
82 SGDP_PRJ NC_000018.9 - 50378351 Apr 27, 2020 (154)
83 Siberian NC_000018.9 - 50378351 Apr 27, 2020 (154)
84 8.3KJPN NC_000018.9 - 50378351 Apr 26, 2021 (155)
85 14KJPN NC_000018.10 - 52851981 Oct 16, 2022 (156)
86 TopMed NC_000018.10 - 52851981 Apr 26, 2021 (155)
87 UK 10K study - Twins NC_000018.9 - 50378351 Oct 12, 2018 (152)
88 A Vietnamese Genetic Variation Database NC_000018.9 - 50378351 Jul 13, 2019 (153)
89 ALFA NC_000018.10 - 52851981 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)
rs57189526 May 23, 2008 (130)
Added to this RefSNP Cluster:
Submission IDs Observation SPDI Canonical SPDI Source RSIDs
ss80405899, ss84667693, ss110556626, ss114417548, ss117881272, ss169851886, ss203293000, ss208241006, ss283003951, ss287288658, ss292075450, ss1697826296 NC_000018.8:48632348:G:A NC_000018.10:52851980:G:A (self)
74508124, 41286872, 29168263, 4610342, 18392542, 44152441, 15859577, 19275153, 39111837, 10409479, 83306016, 41286872, 9122234, ss227879227, ss237480045, ss243727111, ss565662815, ss661496860, ss993765651, ss1081527858, ss1361174033, ss1428228167, ss1578418940, ss1636956031, ss1679950064, ss1809066897, ss1937233231, ss1968532451, ss2029386553, ss2157893125, ss2629191251, ss2702482979, ss2957103855, ss3016586055, ss3352039545, ss3683430015, ss3742574712, ss3755436322, ss3788380455, ss3793310374, ss3798196740, ss3835187417, ss3887094857, ss3936975047, ss5225336709, ss5511951520, ss5661367481, ss5827594898, ss5952788258 NC_000018.9:50378350:G:A NC_000018.10:52851980:G:A (self)
97857169, 525603504, 1609898, 36597064, 117012640, 273556255, 2321781679, ss2221881096, ss3028522250, ss3650798210, ss3701731669, ss3820693922, ss3980219063, ss5058010592, ss5305421014, ss5498178103, ss5610331234, ss5783175536, ss5817129663, ss5852068973, ss5874233281 NC_000018.10:52851980:G:A NC_000018.10:52851980:G:A (self)
ss12440480, ss17599284, ss21487075 NT_010966.13:31867452:G:A NC_000018.10:52851980:G:A (self)
ss44072530, ss69215039, ss96512640, ss136404984 NT_010966.14:31867452:G:A NC_000018.10:52851980:G:A (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 rs8095147

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