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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.

rs806793

Current Build 156

Released September 21, 2022

Organism
Homo sapiens
Position
chr6:26199269 (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=0.002731 (723/264690, TOPMED)
A=0.000830 (179/215790, GnomAD_exome)
A=0.002274 (319/140282, GnomAD) (+ 7 more)
A=0.001191 (127/106640, ExAC)
A=0.00155 (80/51574, ALFA)
A=0.00004 (1/28258, 14KJPN)
A=0.00215 (28/12996, GO-ESP)
A=0.0044 (28/6404, 1000G_30x)
A=0.0034 (17/5008, 1000G)
A=0.015 (5/324, HapMap)
Clinical Significance
Not Reported in ClinVar
Gene : Consequence
H3C4 : 5 Prime UTR Variant
H2AC7 : 5 Prime UTR Variant
H2BC7 : 2KB Upstream 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 51574 G=0.99845 A=0.00155
European Sub 35072 G=1.00000 A=0.00000
African Sub 8348 G=0.9908 A=0.0092
African Others Sub 282 G=0.986 A=0.014
African American Sub 8066 G=0.9909 A=0.0091
Asian Sub 508 G=1.000 A=0.000
East Asian Sub 410 G=1.000 A=0.000
Other Asian Sub 98 G=1.00 A=0.00
Latin American 1 Sub 532 G=1.000 A=0.000
Latin American 2 Sub 910 G=1.000 A=0.000
South Asian Sub 178 G=1.000 A=0.000
Other Sub 6026 G=0.9995 A=0.0005


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=0.997269 A=0.002731
gnomAD - Exomes Global Study-wide 215790 G=0.999170 A=0.000830
gnomAD - Exomes European Sub 123972 G=0.999984 A=0.000016
gnomAD - Exomes Asian Sub 40522 G=0.99926 A=0.00074
gnomAD - Exomes American Sub 23380 G=0.99974 A=0.00026
gnomAD - Exomes African Sub 14500 G=0.99048 A=0.00952
gnomAD - Exomes Ashkenazi Jewish Sub 8180 G=0.9999 A=0.0001
gnomAD - Exomes Other Sub 5236 G=0.9996 A=0.0004
gnomAD - Genomes Global Study-wide 140282 G=0.997726 A=0.002274
gnomAD - Genomes European Sub 75952 G=1.00000 A=0.00000
gnomAD - Genomes African Sub 42050 G=0.99249 A=0.00751
gnomAD - Genomes American Sub 13668 G=0.99978 A=0.00022
gnomAD - Genomes Ashkenazi Jewish Sub 3324 G=1.0000 A=0.0000
gnomAD - Genomes East Asian Sub 3134 G=1.0000 A=0.0000
gnomAD - Genomes Other Sub 2154 G=1.0000 A=0.0000
ExAC Global Study-wide 106640 G=0.998809 A=0.001191
ExAC Europe Sub 64438 G=0.99997 A=0.00003
ExAC Asian Sub 23062 G=0.99905 A=0.00095
ExAC American Sub 9742 G=0.9996 A=0.0004
ExAC African Sub 8586 G=0.9885 A=0.0115
ExAC Other Sub 812 G=1.000 A=0.000
Allele Frequency Aggregator Total Global 51574 G=0.99845 A=0.00155
Allele Frequency Aggregator European Sub 35072 G=1.00000 A=0.00000
Allele Frequency Aggregator African Sub 8348 G=0.9908 A=0.0092
Allele Frequency Aggregator Other Sub 6026 G=0.9995 A=0.0005
Allele Frequency Aggregator Latin American 2 Sub 910 G=1.000 A=0.000
Allele Frequency Aggregator Latin American 1 Sub 532 G=1.000 A=0.000
Allele Frequency Aggregator Asian Sub 508 G=1.000 A=0.000
Allele Frequency Aggregator South Asian Sub 178 G=1.000 A=0.000
14KJPN JAPANESE Study-wide 28258 G=0.99996 A=0.00004
GO Exome Sequencing Project Global Study-wide 12996 G=0.99785 A=0.00215
GO Exome Sequencing Project European American Sub 8598 G=1.0000 A=0.0000
GO Exome Sequencing Project African American Sub 4398 G=0.9936 A=0.0064
1000Genomes_30x Global Study-wide 6404 G=0.9956 A=0.0044
1000Genomes_30x African Sub 1786 G=0.9843 A=0.0157
1000Genomes_30x Europe Sub 1266 G=1.0000 A=0.0000
1000Genomes_30x South Asian Sub 1202 G=1.0000 A=0.0000
1000Genomes_30x East Asian Sub 1170 G=1.0000 A=0.0000
1000Genomes_30x American Sub 980 G=1.000 A=0.000
1000Genomes Global Study-wide 5008 G=0.9966 A=0.0034
1000Genomes African Sub 1322 G=0.9871 A=0.0129
1000Genomes East Asian Sub 1008 G=1.0000 A=0.0000
1000Genomes Europe Sub 1006 G=1.0000 A=0.0000
1000Genomes South Asian Sub 978 G=1.000 A=0.000
1000Genomes American Sub 694 G=1.000 A=0.000
HapMap Global Study-wide 324 G=0.985 A=0.015
HapMap African Sub 118 G=0.958 A=0.042
HapMap American Sub 118 G=1.000 A=0.000
HapMap Asian Sub 88 G=1.00 A=0.00
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.26199269G>A
GRCh37.p13 chr 6 NC_000006.11:g.26199497G>A
Gene: H3C4, H3 clustered histone 4 (minus strand)
Molecule type Change Amino acid[Codon] SO Term
H3C4 transcript variant 2 NM_003530.4:c.-430= N/A 5 Prime UTR Variant
H3C4 transcript variant 1 NM_001376937.1:c. N/A Genic Upstream Transcript Variant
Gene: H2AC7, H2A clustered histone 7 (minus strand)
Molecule type Change Amino acid[Codon] SO Term
H2AC7 transcript NM_021065.3:c.-26= N/A 5 Prime UTR Variant
Gene: H2BC7, H2B clustered histone 7 (plus strand) : 2KB Upstream Variant
Molecule type Change Amino acid[Codon] SO Term
H2BC7 transcript NM_003522.4:c. N/A 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 6 NC_000006.12:g.26199269= NC_000006.12:g.26199269G>A
GRCh37.p13 chr 6 NC_000006.11:g.26199497= NC_000006.11:g.26199497G>A
H3C4 transcript variant 2 NM_003530.4:c.-430= NM_003530.4:c.-430C>T
H2AC7 transcript NM_021065.3:c.-26= NM_021065.3:c.-26C>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#.

34 SubSNP, 10 Frequency submissions
No Submitter Submission ID Date (Build)
1 KWOK ss1038712 Oct 05, 2000 (86)
2 KWOK ss1631989 Oct 18, 2000 (87)
3 TSC-CSHL ss2221609 Oct 23, 2000 (88)
4 SC_JCM ss3957404 Sep 28, 2001 (100)
5 ILLUMINA ss160946223 Dec 01, 2009 (131)
6 1000GENOMES ss222273072 Jul 14, 2010 (132)
7 ILLUMINA ss482767230 Sep 08, 2015 (146)
8 1000GENOMES ss490921133 May 04, 2012 (137)
9 ILLUMINA ss537551453 Sep 08, 2015 (146)
10 NHLBI-ESP ss712694696 Apr 25, 2013 (138)
11 ILLUMINA ss778713905 Aug 21, 2014 (142)
12 ILLUMINA ss834173114 Aug 21, 2014 (142)
13 1000GENOMES ss1319407806 Aug 21, 2014 (142)
14 EVA_EXAC ss1688189853 Apr 01, 2015 (144)
15 HUMAN_LONGEVITY ss2282681388 Dec 20, 2016 (150)
16 ILLUMINA ss2634416230 Nov 08, 2017 (151)
17 GNOMAD ss2735587083 Nov 08, 2017 (151)
18 GNOMAD ss2747562202 Nov 08, 2017 (151)
19 GNOMAD ss2837009599 Nov 08, 2017 (151)
20 SWEGEN ss2998702315 Nov 08, 2017 (151)
21 ILLUMINA ss3629471917 Oct 12, 2018 (152)
22 ILLUMINA ss3632335715 Oct 12, 2018 (152)
23 ILLUMINA ss3636766272 Oct 12, 2018 (152)
24 KHV_HUMAN_GENOMES ss3807916364 Jul 13, 2019 (153)
25 EVA ss3824162355 Apr 26, 2020 (154)
26 TOPMED ss4697265174 Apr 26, 2021 (155)
27 1000G_HIGH_COVERAGE ss5267793497 Oct 13, 2022 (156)
28 EVA ss5364502779 Oct 13, 2022 (156)
29 HUGCELL_USP ss5465551708 Oct 13, 2022 (156)
30 1000G_HIGH_COVERAGE ss5553396721 Oct 13, 2022 (156)
31 SANFORD_IMAGENETICS ss5639993935 Oct 13, 2022 (156)
32 TOMMO_GENOMICS ss5714456089 Oct 13, 2022 (156)
33 EVA ss5883099852 Oct 13, 2022 (156)
34 EVA ss5968501066 Oct 13, 2022 (156)
35 1000Genomes NC_000006.11 - 26199497 Oct 12, 2018 (152)
36 1000Genomes_30x NC_000006.12 - 26199269 Oct 13, 2022 (156)
37 ExAC NC_000006.11 - 26199497 Oct 12, 2018 (152)
38 gnomAD - Genomes NC_000006.12 - 26199269 Apr 26, 2021 (155)
39 gnomAD - Exomes NC_000006.11 - 26199497 Jul 13, 2019 (153)
40 GO Exome Sequencing Project NC_000006.11 - 26199497 Oct 12, 2018 (152)
41 HapMap NC_000006.12 - 26199269 Apr 26, 2020 (154)
42 14KJPN NC_000006.12 - 26199269 Oct 13, 2022 (156)
43 TopMed NC_000006.12 - 26199269 Apr 26, 2021 (155)
44 ALFA NC_000006.12 - 26199269 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)
rs386615174 Aug 21, 2014 (142)
Added to this RefSNP Cluster:
Submission IDs Observation SPDI Canonical SPDI Source RSIDs
31168897, 8211523, 4727087, 620394, ss222273072, ss482767230, ss490921133, ss537551453, ss712694696, ss778713905, ss834173114, ss1319407806, ss1688189853, ss2634416230, ss2735587083, ss2747562202, ss2837009599, ss2998702315, ss3629471917, ss3632335715, ss3636766272, ss3824162355, ss5364502779, ss5639993935, ss5968501066 NC_000006.11:26199496:G:A NC_000006.12:26199268:G:A (self)
40922656, 220205298, 3087923, 48293193, 534642732, 4145540280, ss2282681388, ss3807916364, ss4697265174, ss5267793497, ss5465551708, ss5553396721, ss5714456089, ss5883099852 NC_000006.12:26199268:G:A NC_000006.12:26199268:G:A (self)
ss1038712, ss1631989, ss2221609, ss3957404, ss160946223 NT_007592.15:26139496:G:A NC_000006.12:26199268: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 rs806793

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