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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.

rs9295128

Current Build 156

Released September 21, 2022

Organism
Homo sapiens
Position
chr6:160330499 (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>T
Variation Type
SNV Single Nucleotide Variation
Frequency
T=0.009528 (2522/264690, TOPMED)
T=0.010965 (1536/140080, GnomAD)
T=0.01324 (250/18888, ALFA) (+ 10 more)
T=0.0027 (17/6404, 1000G_30x)
T=0.0030 (15/5008, 1000G)
T=0.0199 (89/4478, Estonian)
T=0.0202 (78/3854, ALSPAC)
T=0.0170 (63/3708, TWINSUK)
T=0.012 (12/998, GoNL)
T=0.007 (4/600, NorthernSweden)
T=0.000 (0/326, HapMap)
G=0.5 (3/6, SGDP_PRJ)
T=0.5 (3/6, SGDP_PRJ)
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: 20231103111315
Population Group Sample Size Ref Allele Alt Allele Ref HMOZ Alt HMOZ HTRZ HWEP
Total Global 18888 G=0.98676 T=0.01324 0.973528 0.0 0.026472 1
European Sub 14284 G=0.98376 T=0.01624 0.967516 0.0 0.032484 1
African Sub 2946 G=0.9963 T=0.0037 0.992532 0.0 0.007468 0
African Others Sub 114 G=1.000 T=0.000 1.0 0.0 0.0 N/A
African American Sub 2832 G=0.9961 T=0.0039 0.992232 0.0 0.007768 0
Asian Sub 112 G=1.000 T=0.000 1.0 0.0 0.0 N/A
East Asian Sub 86 G=1.00 T=0.00 1.0 0.0 0.0 N/A
Other Asian Sub 26 G=1.00 T=0.00 1.0 0.0 0.0 N/A
Latin American 1 Sub 146 G=0.993 T=0.007 0.986301 0.0 0.013699 0
Latin American 2 Sub 610 G=0.993 T=0.007 0.986885 0.0 0.013115 0
South Asian Sub 98 G=1.00 T=0.00 1.0 0.0 0.0 N/A
Other Sub 692 G=0.997 T=0.003 0.99422 0.0 0.00578 0


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=0.990472 T=0.009528
gnomAD - Genomes Global Study-wide 140080 G=0.989035 T=0.010965
gnomAD - Genomes European Sub 75908 G=0.98434 T=0.01566
gnomAD - Genomes African Sub 41914 G=0.99692 T=0.00308
gnomAD - Genomes American Sub 13654 G=0.98513 T=0.01487
gnomAD - Genomes Ashkenazi Jewish Sub 3324 G=0.9997 T=0.0003
gnomAD - Genomes East Asian Sub 3132 G=1.0000 T=0.0000
gnomAD - Genomes Other Sub 2148 G=0.9935 T=0.0065
Allele Frequency Aggregator Total Global 18888 G=0.98676 T=0.01324
Allele Frequency Aggregator European Sub 14284 G=0.98376 T=0.01624
Allele Frequency Aggregator African Sub 2946 G=0.9963 T=0.0037
Allele Frequency Aggregator Other Sub 692 G=0.997 T=0.003
Allele Frequency Aggregator Latin American 2 Sub 610 G=0.993 T=0.007
Allele Frequency Aggregator Latin American 1 Sub 146 G=0.993 T=0.007
Allele Frequency Aggregator Asian Sub 112 G=1.000 T=0.000
Allele Frequency Aggregator South Asian Sub 98 G=1.00 T=0.00
1000Genomes_30x Global Study-wide 6404 G=0.9973 T=0.0027
1000Genomes_30x African Sub 1786 G=1.0000 T=0.0000
1000Genomes_30x Europe Sub 1266 G=0.9889 T=0.0111
1000Genomes_30x South Asian Sub 1202 G=1.0000 T=0.0000
1000Genomes_30x East Asian Sub 1170 G=1.0000 T=0.0000
1000Genomes_30x American Sub 980 G=0.997 T=0.003
1000Genomes Global Study-wide 5008 G=0.9970 T=0.0030
1000Genomes African Sub 1322 G=1.0000 T=0.0000
1000Genomes East Asian Sub 1008 G=1.0000 T=0.0000
1000Genomes Europe Sub 1006 G=0.9871 T=0.0129
1000Genomes South Asian Sub 978 G=1.000 T=0.000
1000Genomes American Sub 694 G=0.997 T=0.003
Genetic variation in the Estonian population Estonian Study-wide 4478 G=0.9801 T=0.0199
The Avon Longitudinal Study of Parents and Children PARENT AND CHILD COHORT Study-wide 3854 G=0.9798 T=0.0202
UK 10K study - Twins TWIN COHORT Study-wide 3708 G=0.9830 T=0.0170
Genome of the Netherlands Release 5 Genome of the Netherlands Study-wide 998 G=0.988 T=0.012
Northern Sweden ACPOP Study-wide 600 G=0.993 T=0.007
HapMap Global Study-wide 326 G=1.000 T=0.000
HapMap American Sub 120 G=1.000 T=0.000
HapMap African Sub 118 G=1.000 T=0.000
HapMap Asian Sub 88 G=1.00 T=0.00
SGDP_PRJ Global Study-wide 6 G=0.5 T=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 6 NC_000006.12:g.160330499G>T
GRCh37.p13 chr 6 NC_000006.11:g.160751531G>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= T
GRCh38.p14 chr 6 NC_000006.12:g.160330499= NC_000006.12:g.160330499G>T
GRCh37.p13 chr 6 NC_000006.11:g.160751531= NC_000006.11:g.160751531G>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#.

28 SubSNP, 12 Frequency submissions
No Submitter Submission ID Date (Build)
1 SC_SNP ss13075120 Dec 05, 2003 (119)
2 WUGSC_SSAHASNP ss14081057 Dec 05, 2003 (119)
3 1000GENOMES ss333781766 May 09, 2011 (134)
4 EVA-GONL ss983730100 Aug 21, 2014 (142)
5 1000GENOMES ss1323147852 Aug 21, 2014 (142)
6 EVA_DECODE ss1593306641 Apr 01, 2015 (144)
7 EVA_UK10K_ALSPAC ss1617169656 Apr 01, 2015 (144)
8 EVA_UK10K_TWINSUK ss1660163689 Apr 01, 2015 (144)
9 JJLAB ss2024152511 Sep 14, 2016 (149)
10 HUMAN_LONGEVITY ss2290207982 Dec 20, 2016 (150)
11 GNOMAD ss2847589369 Nov 08, 2017 (151)
12 SWEGEN ss3000299424 Nov 08, 2017 (151)
13 CSHL ss3347329384 Nov 08, 2017 (151)
14 EGCUT_WGS ss3668239688 Jul 13, 2019 (153)
15 EVA_DECODE ss3718708490 Jul 13, 2019 (153)
16 ACPOP ss3734176051 Jul 13, 2019 (153)
17 EVA ss3830305122 Apr 26, 2020 (154)
18 SGDP_PRJ ss3866172279 Apr 26, 2020 (154)
19 TOPMED ss4729297332 Apr 27, 2021 (155)
20 1000G_HIGH_COVERAGE ss5271119441 Oct 13, 2022 (156)
21 EVA ss5370410857 Oct 13, 2022 (156)
22 HUGCELL_USP ss5468494460 Oct 13, 2022 (156)
23 1000G_HIGH_COVERAGE ss5558440712 Oct 13, 2022 (156)
24 SANFORD_IMAGENETICS ss5641932993 Oct 13, 2022 (156)
25 EVA ss5843290908 Oct 13, 2022 (156)
26 EVA ss5886842166 Oct 13, 2022 (156)
27 EVA ss5970992293 Oct 13, 2022 (156)
28 EVA ss5970992294 Oct 13, 2022 (156)
29 1000Genomes NC_000006.11 - 160751531 Oct 12, 2018 (152)
30 1000Genomes_30x NC_000006.12 - 160330499 Oct 13, 2022 (156)
31 The Avon Longitudinal Study of Parents and Children NC_000006.11 - 160751531 Oct 12, 2018 (152)
32 Genetic variation in the Estonian population NC_000006.11 - 160751531 Oct 12, 2018 (152)
33 gnomAD - Genomes NC_000006.12 - 160330499 Apr 27, 2021 (155)
34 Genome of the Netherlands Release 5 NC_000006.11 - 160751531 Apr 26, 2020 (154)
35 HapMap NC_000006.12 - 160330499 Apr 26, 2020 (154)
36 Northern Sweden NC_000006.11 - 160751531 Jul 13, 2019 (153)
37 SGDP_PRJ NC_000006.11 - 160751531 Apr 26, 2020 (154)
38 TopMed NC_000006.12 - 160330499 Apr 27, 2021 (155)
39 UK 10K study - Twins NC_000006.11 - 160751531 Oct 12, 2018 (152)
40 ALFA NC_000006.12 - 160330499 Apr 27, 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
ss1593306641 NC_000006.10:160671520:G:T NC_000006.12:160330498:G:T (self)
35050167, 19547992, 13977936, 8699305, 7460916, 18189259, 19547992, ss333781766, ss983730100, ss1323147852, ss1617169656, ss1660163689, ss2024152511, ss2847589369, ss3000299424, ss3347329384, ss3668239688, ss3734176051, ss3830305122, ss3866172279, ss5370410857, ss5641932993, ss5843290908, ss5970992293, ss5970992294 NC_000006.11:160751530:G:T NC_000006.12:160330498:G:T (self)
45966647, 247414375, 3297594, 566674890, 7781188885, ss2290207982, ss3718708490, ss4729297332, ss5271119441, ss5468494460, ss5558440712, ss5886842166 NC_000006.12:160330498:G:T NC_000006.12:160330498:G:T (self)
ss13075120, ss14081057 NT_007422.12:3038871:G:T NC_000006.12:160330498: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 rs9295128

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.post820+afb47a3d