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dbSNP Short Genetic Variations

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.


Current Build 155

Released April 9, 2021

Homo sapiens
chr8:42757004 (GRCh38.p13) 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.

Variation Type
SNV Single Nucleotide Variation
C=0.000140 (37/264690, TOPMED)
C=0.000151 (38/251370, GnomAD_exome)
C=0.000251 (50/199274, ALFA) (+ 9 more)
C=0.000100 (14/140254, GnomAD)
C=0.000199 (24/120806, ExAC)
C=0.00011 (9/78698, PAGE_STUDY)
C=0.00095 (16/16760, 8.3KJPN)
C=0.00015 (2/13006, GO-ESP)
C=0.0004 (2/5008, 1000G)
C=0.0003 (1/3854, ALSPAC)
C=0.0011 (4/3708, TWINSUK)
C=0.002 (1/534, MGP)
Clinical Significance
Not Reported in ClinVar
Gene : Consequence
CHRNA6 : Missense Variant
0 citations
Genomic View
See rs on genome

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.p13 chr 8 NC_000008.11:g.42757004T>C
GRCh37.p13 chr 8 NC_000008.10:g.42612147T>C
Gene: CHRNA6, cholinergic receptor nicotinic alpha 6 subunit (minus strand)
Molecule type Change Amino acid[Codon] SO Term
CHRNA6 transcript variant 1 NM_004198.3:c.298A>G M [ATG] > V [GTG] Coding Sequence Variant
neuronal acetylcholine receptor subunit alpha-6 isoform 1 precursor NP_004189.1:p.Met100Val M (Met) > V (Val) Missense Variant
CHRNA6 transcript variant 2 NM_001199279.1:c.253A>G M [ATG] > V [GTG] Coding Sequence Variant
neuronal acetylcholine receptor subunit alpha-6 isoform 2 precursor NP_001186208.1:p.Met85Val M (Met) > V (Val) Missense Variant

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

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: 20201027095038
Population Group Sample Size Ref Allele Alt Allele
Total Global 199274 T=0.999749 C=0.000251
European Sub 169934 T=0.999729 C=0.000271
African Sub 4954 T=0.9998 C=0.0002
African Others Sub 176 T=1.000 C=0.000
African American Sub 4778 T=0.9998 C=0.0002
Asian Sub 6350 T=1.0000 C=0.0000
East Asian Sub 4502 T=1.0000 C=0.0000
Other Asian Sub 1848 T=1.0000 C=0.0000
Latin American 1 Sub 796 T=1.000 C=0.000
Latin American 2 Sub 968 T=1.000 C=0.000
South Asian Sub 280 T=1.000 C=0.000
Other Sub 15992 T=0.99981 C=0.00019


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").

Study Population Group Sample Size Ref Allele Alt Allele
TopMed Global Study-wide 264690 T=0.999860 C=0.000140
gnomAD - Exomes Global Study-wide 251370 T=0.999849 C=0.000151
gnomAD - Exomes European Sub 135368 T=0.999771 C=0.000229
gnomAD - Exomes Asian Sub 48988 T=0.99994 C=0.00006
gnomAD - Exomes American Sub 34568 T=0.99994 C=0.00006
gnomAD - Exomes African Sub 16230 T=0.99994 C=0.00006
gnomAD - Exomes Ashkenazi Jewish Sub 10078 T=0.99990 C=0.00010
gnomAD - Exomes Other Sub 6138 T=1.0000 C=0.0000
gnomAD - Genomes Global Study-wide 140254 T=0.999900 C=0.000100
gnomAD - Genomes European Sub 75944 T=0.99987 C=0.00013
gnomAD - Genomes African Sub 42048 T=0.99990 C=0.00010
gnomAD - Genomes American Sub 13656 T=1.00000 C=0.00000
gnomAD - Genomes Ashkenazi Jewish Sub 3324 T=1.0000 C=0.0000
gnomAD - Genomes East Asian Sub 3130 T=1.0000 C=0.0000
gnomAD - Genomes Other Sub 2152 T=1.0000 C=0.0000
ExAC Global Study-wide 120806 T=0.999801 C=0.000199
ExAC Europe Sub 73070 T=0.99977 C=0.00023
ExAC Asian Sub 25076 T=0.99984 C=0.00016
ExAC American Sub 11528 T=0.99983 C=0.00017
ExAC African Sub 10230 T=0.99990 C=0.00010
ExAC Other Sub 902 T=1.000 C=0.000
The PAGE Study Global Study-wide 78698 T=0.99989 C=0.00011
The PAGE Study AfricanAmerican Sub 32514 T=0.99985 C=0.00015
The PAGE Study Mexican Sub 10810 T=1.00000 C=0.00000
The PAGE Study Asian Sub 8318 T=0.9996 C=0.0004
The PAGE Study PuertoRican Sub 7918 T=1.0000 C=0.0000
The PAGE Study NativeHawaiian Sub 4534 T=0.9998 C=0.0002
The PAGE Study Cuban Sub 4228 T=1.0000 C=0.0000
The PAGE Study Dominican Sub 3828 T=1.0000 C=0.0000
The PAGE Study CentralAmerican Sub 2450 T=1.0000 C=0.0000
The PAGE Study SouthAmerican Sub 1982 T=1.0000 C=0.0000
The PAGE Study NativeAmerican Sub 1260 T=1.0000 C=0.0000
The PAGE Study SouthAsian Sub 856 T=1.000 C=0.000
8.3KJPN JAPANESE Study-wide 16760 T=0.99905 C=0.00095
GO Exome Sequencing Project Global Study-wide 13006 T=0.99985 C=0.00015
GO Exome Sequencing Project European American Sub 8600 T=0.9998 C=0.0002
GO Exome Sequencing Project African American Sub 4406 T=1.0000 C=0.0000
1000Genomes Global Study-wide 5008 T=0.9996 C=0.0004
1000Genomes African Sub 1322 T=1.0000 C=0.0000
1000Genomes East Asian Sub 1008 T=0.9980 C=0.0020
1000Genomes Europe Sub 1006 T=1.0000 C=0.0000
1000Genomes South Asian Sub 978 T=1.000 C=0.000
1000Genomes American Sub 694 T=1.000 C=0.000
The Avon Longitudinal Study of Parents and Children PARENT AND CHILD COHORT Study-wide 3854 T=0.9997 C=0.0003
UK 10K study - Twins TWIN COHORT Study-wide 3708 T=0.9989 C=0.0011
Medical Genome Project healthy controls from Spanish population Spanish controls Study-wide 534 T=0.998 C=0.002

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.p13 chr 8 NC_000008.11:g.42757004= NC_000008.11:g.42757004T>C
GRCh37.p13 chr 8 NC_000008.10:g.42612147= NC_000008.10:g.42612147T>C
CHRNA6 transcript variant 1 NM_004198.3:c.298= NM_004198.3:c.298A>G
CHRNA6 transcript variant 2 NM_001199279.1:c.253= NM_001199279.1:c.253A>G
neuronal acetylcholine receptor subunit alpha-6 isoform 1 precursor NP_004189.1:p.Met100= NP_004189.1:p.Met100Val
neuronal acetylcholine receptor subunit alpha-6 isoform 2 precursor NP_001186208.1:p.Met85= NP_001186208.1:p.Met85Val

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#.

42 SubSNP, 12 Frequency submissions
No Submitter Submission ID Date (Build)
1 PERLEGEN ss161151700 Dec 01, 2009 (131)
2 1000GENOMES ss460376625 Sep 17, 2011 (135)
3 1000GENOMES ss490964566 May 04, 2012 (137)
4 GSK-GENETICS ss491277425 May 04, 2012 (137)
5 EXOME_CHIP ss491413102 May 04, 2012 (137)
6 NHLBI-ESP ss712842252 Apr 25, 2013 (138)
7 ILLUMINA ss780869704 Aug 21, 2014 (142)
8 ILLUMINA ss783554734 Aug 21, 2014 (142)
9 1000GENOMES ss1329586049 Aug 21, 2014 (142)
10 EVA_UK10K_ALSPAC ss1620495186 Apr 01, 2015 (144)
11 EVA_UK10K_TWINSUK ss1663489219 Apr 01, 2015 (144)
12 EVA_EXAC ss1689185055 Apr 01, 2015 (144)
13 EVA_MGP ss1711199982 Apr 01, 2015 (144)
14 ILLUMINA ss1752732697 Sep 08, 2015 (146)
15 ILLUMINA ss1917828282 Feb 12, 2016 (147)
16 ILLUMINA ss1946235879 Feb 12, 2016 (147)
17 ILLUMINA ss1959106982 Feb 12, 2016 (147)
18 HUMAN_LONGEVITY ss2302699236 Dec 20, 2016 (150)
19 TOPMED ss2472356142 Dec 20, 2016 (150)
20 GNOMAD ss2737137033 Nov 08, 2017 (151)
21 GNOMAD ss2748042640 Nov 08, 2017 (151)
22 GNOMAD ss2865990913 Nov 08, 2017 (151)
23 AFFY ss2985437786 Nov 08, 2017 (151)
24 AFFY ss2986081585 Nov 08, 2017 (151)
25 SWEGEN ss3003069103 Nov 08, 2017 (151)
26 ILLUMINA ss3022841365 Nov 08, 2017 (151)
27 TOPMED ss3560237068 Nov 08, 2017 (151)
28 ILLUMINA ss3630049905 Oct 12, 2018 (152)
29 ILLUMINA ss3635169813 Oct 12, 2018 (152)
30 ILLUMINA ss3640877103 Oct 12, 2018 (152)
31 ILLUMINA ss3644969083 Oct 12, 2018 (152)
32 ILLUMINA ss3653383041 Oct 12, 2018 (152)
33 ILLUMINA ss3654200012 Oct 12, 2018 (152)
34 ILLUMINA ss3726534059 Jul 13, 2019 (153)
35 ILLUMINA ss3744579811 Jul 13, 2019 (153)
36 ILLUMINA ss3745469686 Jul 13, 2019 (153)
37 EVA ss3767922935 Jul 13, 2019 (153)
38 PAGE_CC ss3771439557 Jul 13, 2019 (153)
39 ILLUMINA ss3772962137 Jul 13, 2019 (153)
40 EVA ss3824367607 Apr 26, 2020 (154)
41 TOPMED ss4783804306 Apr 26, 2021 (155)
42 TOMMO_GENOMICS ss5188404807 Apr 26, 2021 (155)
43 1000Genomes NC_000008.10 - 42612147 Oct 12, 2018 (152)
44 The Avon Longitudinal Study of Parents and Children NC_000008.10 - 42612147 Oct 12, 2018 (152)
45 ExAC NC_000008.10 - 42612147 Oct 12, 2018 (152)
46 gnomAD - Genomes NC_000008.11 - 42757004 Apr 26, 2021 (155)
47 gnomAD - Exomes NC_000008.10 - 42612147 Jul 13, 2019 (153)
48 GO Exome Sequencing Project NC_000008.10 - 42612147 Oct 12, 2018 (152)
49 Medical Genome Project healthy controls from Spanish population NC_000008.10 - 42612147 Apr 26, 2020 (154)
50 The PAGE Study NC_000008.11 - 42757004 Jul 13, 2019 (153)
51 8.3KJPN NC_000008.10 - 42612147 Apr 26, 2021 (155)
52 TopMed NC_000008.11 - 42757004 Apr 26, 2021 (155)
53 UK 10K study - Twins NC_000008.10 - 42612147 Oct 12, 2018 (152)
54 ALFA NC_000008.11 - 42757004 Apr 26, 2021 (155)

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
ss491277425 NC_000008.9:42731303:T:C NC_000008.11:42757003:T:C (self)
41703036, 23192897, 9284162, 6308610, 825454, 315742, 46374114, 23192897, ss460376625, ss490964566, ss491413102, ss712842252, ss780869704, ss783554734, ss1329586049, ss1620495186, ss1663489219, ss1689185055, ss1711199982, ss1752732697, ss1917828282, ss1946235879, ss1959106982, ss2472356142, ss2737137033, ss2748042640, ss2865990913, ss2985437786, ss2986081585, ss3003069103, ss3022841365, ss3630049905, ss3635169813, ss3640877103, ss3644969083, ss3653383041, ss3654200012, ss3744579811, ss3745469686, ss3767922935, ss3772962137, ss3824367607, ss5188404807 NC_000008.10:42612146:T:C NC_000008.11:42757003:T:C (self)
294049562, 661026, 388198782, 621181866, 8988701630, ss2302699236, ss3560237068, ss3726534059, ss3771439557, ss4783804306 NC_000008.11:42757003:T:C NC_000008.11:42757003:T:C (self)
ss161151700 NT_167187.1:30470292:T:C NC_000008.11:42757003:T:C (self)

Publications tab displays PubMed articles citing the variation as a listing of PMID, Title, Author, Year, Journal, ordered by Year, descending.

No publications for rs76092830


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.post596+ae089ad