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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.

rs56344740

Current Build 155

Released April 9, 2021

Organism
Homo sapiens
Position
chr8:27463009 (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.

Alleles
G>A / G>T
Variation Type
SNV Single Nucleotide Variation
Frequency
T=0.003068 (770/251014, GnomAD_exome)
T=0.004495 (915/203566, ALFA)
T=0.003378 (409/121074, ExAC) (+ 11 more)
T=0.00156 (123/78680, PAGE_STUDY)
T=0.00415 (54/13006, GO-ESP)
T=0.0016 (8/5008, 1000G)
T=0.0036 (16/4480, Estonian)
T=0.0083 (32/3854, ALSPAC)
T=0.0051 (19/3708, TWINSUK)
T=0.002 (2/998, GoNL)
T=0.003 (2/600, NorthernSweden)
T=0.006 (3/534, MGP)
G=0.5 (1/2, SGDP_PRJ)
T=0.5 (1/2, SGDP_PRJ)
Clinical Significance
Reported in ClinVar
Gene : Consequence
CHRNA2 : Missense Variant
Publications
3 citations
Genomic View
See rs on genome
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.p13 chr 8 NC_000008.11:g.27463009G>A
GRCh38.p13 chr 8 NC_000008.11:g.27463009G>T
GRCh37.p13 chr 8 NC_000008.10:g.27320526G>A
GRCh37.p13 chr 8 NC_000008.10:g.27320526G>T
CHRNA2 RefSeqGene NG_015827.1:g.21288C>T
CHRNA2 RefSeqGene NG_015827.1:g.21288C>A
Gene: CHRNA2, cholinergic receptor nicotinic alpha 2 subunit (minus strand)
Molecule type Change Amino acid[Codon] SO Term
CHRNA2 transcript variant 1 NM_000742.4:c.1434C>T D [GAC] > D [GAT] Coding Sequence Variant
neuronal acetylcholine receptor subunit alpha-2 isoform 1 precursor NP_000733.2:p.Asp478= D (Asp) > D (Asp) Synonymous Variant
CHRNA2 transcript variant 1 NM_000742.4:c.1434C>A D [GAC] > E [GAA] Coding Sequence Variant
neuronal acetylcholine receptor subunit alpha-2 isoform 1 precursor NP_000733.2:p.Asp478Glu D (Asp) > E (Glu) Missense Variant
CHRNA2 transcript variant 3 NM_001347705.2:c.957C>T D [GAC] > D [GAT] Coding Sequence Variant
neuronal acetylcholine receptor subunit alpha-2 isoform 3 NP_001334634.1:p.Asp319= D (Asp) > D (Asp) Synonymous Variant
CHRNA2 transcript variant 3 NM_001347705.2:c.957C>A D [GAC] > E [GAA] Coding Sequence Variant
neuronal acetylcholine receptor subunit alpha-2 isoform 3 NP_001334634.1:p.Asp319Glu D (Asp) > E (Glu) Missense Variant
CHRNA2 transcript variant 6 NM_001347708.2:c.840C>T D [GAC] > D [GAT] Coding Sequence Variant
neuronal acetylcholine receptor subunit alpha-2 isoform 4 NP_001334637.1:p.Asp280= D (Asp) > D (Asp) Synonymous Variant
CHRNA2 transcript variant 6 NM_001347708.2:c.840C>A D [GAC] > E [GAA] Coding Sequence Variant
neuronal acetylcholine receptor subunit alpha-2 isoform 4 NP_001334637.1:p.Asp280Glu D (Asp) > E (Glu) Missense Variant
CHRNA2 transcript variant 5 NM_001347707.2:c.840C>T D [GAC] > D [GAT] Coding Sequence Variant
neuronal acetylcholine receptor subunit alpha-2 isoform 4 NP_001334636.1:p.Asp280= D (Asp) > D (Asp) Synonymous Variant
CHRNA2 transcript variant 5 NM_001347707.2:c.840C>A D [GAC] > E [GAA] Coding Sequence Variant
neuronal acetylcholine receptor subunit alpha-2 isoform 4 NP_001334636.1:p.Asp280Glu D (Asp) > E (Glu) Missense Variant
CHRNA2 transcript variant 4 NM_001347706.2:c.957C>T D [GAC] > D [GAT] Coding Sequence Variant
neuronal acetylcholine receptor subunit alpha-2 isoform 3 NP_001334635.1:p.Asp319= D (Asp) > D (Asp) Synonymous Variant
CHRNA2 transcript variant 4 NM_001347706.2:c.957C>A D [GAC] > E [GAA] Coding Sequence Variant
neuronal acetylcholine receptor subunit alpha-2 isoform 3 NP_001334635.1:p.Asp319Glu D (Asp) > E (Glu) Missense Variant
CHRNA2 transcript variant 2 NM_001282455.2:c.1389C>T D [GAC] > D [GAT] Coding Sequence Variant
neuronal acetylcholine receptor subunit alpha-2 isoform 2 precursor NP_001269384.1:p.Asp463= D (Asp) > D (Asp) Synonymous Variant
CHRNA2 transcript variant 2 NM_001282455.2:c.1389C>A D [GAC] > E [GAA] Coding Sequence Variant
neuronal acetylcholine receptor subunit alpha-2 isoform 2 precursor NP_001269384.1:p.Asp463Glu D (Asp) > E (Glu) Missense Variant
CHRNA2 transcript variant X1 XM_011544389.2:c.840C>T D [GAC] > D [GAT] Coding Sequence Variant
neuronal acetylcholine receptor subunit alpha-2 isoform X1 XP_011542691.1:p.Asp280= D (Asp) > D (Asp) Synonymous Variant
CHRNA2 transcript variant X1 XM_011544389.2:c.840C>A D [GAC] > E [GAA] Coding Sequence Variant
neuronal acetylcholine receptor subunit alpha-2 isoform X1 XP_011542691.1:p.Asp280Glu D (Asp) > E (Glu) Missense 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.

Allele: T (allele ID: 140456 )
ClinVar Accession Disease Names Clinical Significance
RCV000124278.3 not specified Benign-Likely-Benign
RCV000419685.4 not provided Benign-Likely-Benign
RCV000717520.1 Seizures Likely-Benign
RCV000768183.3 Epilepsy, nocturnal frontal lobe, type 4 Conflicting-Interpretations-Of-Pathogenicity
RCV001080927.1 Autosomal dominant nocturnal frontal lobe epilepsy Benign

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 203566 G=0.995505 A=0.000000, T=0.004495
European Sub 174236 G=0.995104 A=0.000000, T=0.004896
African Sub 4950 G=0.9998 A=0.0000, T=0.0002
African Others Sub 176 G=1.000 A=0.000, T=0.000
African American Sub 4774 G=0.9998 A=0.0000, T=0.0002
Asian Sub 6350 G=1.0000 A=0.0000, T=0.0000
East Asian Sub 4502 G=1.0000 A=0.0000, T=0.0000
Other Asian Sub 1848 G=1.0000 A=0.0000, T=0.0000
Latin American 1 Sub 796 G=0.997 A=0.000, T=0.003
Latin American 2 Sub 968 G=0.999 A=0.000, T=0.001
South Asian Sub 280 G=1.000 A=0.000, T=0.000
Other Sub 15986 G=0.99637 A=0.00000, T=0.00363


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 - Exomes Global Study-wide 251014 G=0.996932 T=0.003068
gnomAD - Exomes European Sub 134992 G=0.995289 T=0.004711
gnomAD - Exomes Asian Sub 48994 G=0.99984 T=0.00016
gnomAD - Exomes American Sub 34580 G=0.99783 T=0.00217
gnomAD - Exomes African Sub 16248 G=0.99877 T=0.00123
gnomAD - Exomes Ashkenazi Jewish Sub 10070 G=0.99930 T=0.00070
gnomAD - Exomes Other Sub 6130 G=0.9961 T=0.0039
ExAC Global Study-wide 121074 G=0.996622 T=0.003378
ExAC Europe Sub 73108 G=0.99510 T=0.00490
ExAC Asian Sub 25132 G=0.99984 T=0.00016
ExAC American Sub 11566 G=0.99741 T=0.00259
ExAC African Sub 10368 G=0.99875 T=0.00125
ExAC Other Sub 900 G=0.996 T=0.004
The PAGE Study Global Study-wide 78680 G=0.99844 T=0.00156
The PAGE Study AfricanAmerican Sub 32498 G=0.99858 T=0.00142
The PAGE Study Mexican Sub 10810 G=0.99750 T=0.00250
The PAGE Study Asian Sub 8318 G=1.0000 T=0.0000
The PAGE Study PuertoRican Sub 7918 G=0.9991 T=0.0009
The PAGE Study NativeHawaiian Sub 4534 G=0.9980 T=0.0020
The PAGE Study Cuban Sub 4230 G=0.9969 T=0.0031
The PAGE Study Dominican Sub 3826 G=0.9976 T=0.0024
The PAGE Study CentralAmerican Sub 2448 G=0.9988 T=0.0012
The PAGE Study SouthAmerican Sub 1982 G=0.9985 T=0.0015
The PAGE Study NativeAmerican Sub 1260 G=0.9952 T=0.0048
The PAGE Study SouthAsian Sub 856 G=1.000 T=0.000
GO Exome Sequencing Project Global Study-wide 13006 G=0.99585 T=0.00415
GO Exome Sequencing Project European American Sub 8600 G=0.9945 T=0.0055
GO Exome Sequencing Project African American Sub 4406 G=0.9984 T=0.0016
1000Genomes Global Study-wide 5008 G=0.9984 T=0.0016
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=0.9960 T=0.0040
1000Genomes South Asian Sub 978 G=1.000 T=0.000
1000Genomes American Sub 694 G=0.994 T=0.006
Genetic variation in the Estonian population Estonian Study-wide 4480 G=0.9964 T=0.0036
The Avon Longitudinal Study of Parents and Children PARENT AND CHILD COHORT Study-wide 3854 G=0.9917 T=0.0083
UK 10K study - Twins TWIN COHORT Study-wide 3708 G=0.9949 T=0.0051
Genome of the Netherlands Release 5 Genome of the Netherlands Study-wide 998 G=0.998 T=0.002
Northern Sweden ACPOP Study-wide 600 G=0.997 T=0.003
Medical Genome Project healthy controls from Spanish population Spanish controls Study-wide 534 G=0.994 T=0.006
SGDP_PRJ Global Study-wide 2 G=0.5 T=0.5
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.p13 chr 8 NC_000008.11:g.27463009= NC_000008.11:g.27463009G>A NC_000008.11:g.27463009G>T
GRCh37.p13 chr 8 NC_000008.10:g.27320526= NC_000008.10:g.27320526G>A NC_000008.10:g.27320526G>T
CHRNA2 RefSeqGene NG_015827.1:g.21288= NG_015827.1:g.21288C>T NG_015827.1:g.21288C>A
CHRNA2 transcript variant 1 NM_000742.4:c.1434= NM_000742.4:c.1434C>T NM_000742.4:c.1434C>A
CHRNA2 transcript variant 1 NM_000742.3:c.1434= NM_000742.3:c.1434C>T NM_000742.3:c.1434C>A
CHRNA2 transcript variant 4 NM_001347706.2:c.957= NM_001347706.2:c.957C>T NM_001347706.2:c.957C>A
CHRNA2 transcript variant 4 NM_001347706.1:c.957= NM_001347706.1:c.957C>T NM_001347706.1:c.957C>A
CHRNA2 transcript variant 2 NM_001282455.2:c.1389= NM_001282455.2:c.1389C>T NM_001282455.2:c.1389C>A
CHRNA2 transcript variant 2 NM_001282455.1:c.1389= NM_001282455.1:c.1389C>T NM_001282455.1:c.1389C>A
CHRNA2 transcript variant 3 NM_001347705.2:c.957= NM_001347705.2:c.957C>T NM_001347705.2:c.957C>A
CHRNA2 transcript variant 3 NM_001347705.1:c.957= NM_001347705.1:c.957C>T NM_001347705.1:c.957C>A
CHRNA2 transcript variant 5 NM_001347707.2:c.840= NM_001347707.2:c.840C>T NM_001347707.2:c.840C>A
CHRNA2 transcript variant 5 NM_001347707.1:c.840= NM_001347707.1:c.840C>T NM_001347707.1:c.840C>A
CHRNA2 transcript variant 6 NM_001347708.2:c.840= NM_001347708.2:c.840C>T NM_001347708.2:c.840C>A
CHRNA2 transcript variant 6 NM_001347708.1:c.840= NM_001347708.1:c.840C>T NM_001347708.1:c.840C>A
CHRNA2 transcript variant X1 XM_011544389.2:c.840= XM_011544389.2:c.840C>T XM_011544389.2:c.840C>A
neuronal acetylcholine receptor subunit alpha-2 isoform 1 precursor NP_000733.2:p.Asp478= NP_000733.2:p.Asp478= NP_000733.2:p.Asp478Glu
neuronal acetylcholine receptor subunit alpha-2 isoform 3 NP_001334635.1:p.Asp319= NP_001334635.1:p.Asp319= NP_001334635.1:p.Asp319Glu
neuronal acetylcholine receptor subunit alpha-2 isoform 2 precursor NP_001269384.1:p.Asp463= NP_001269384.1:p.Asp463= NP_001269384.1:p.Asp463Glu
neuronal acetylcholine receptor subunit alpha-2 isoform 3 NP_001334634.1:p.Asp319= NP_001334634.1:p.Asp319= NP_001334634.1:p.Asp319Glu
neuronal acetylcholine receptor subunit alpha-2 isoform 4 NP_001334636.1:p.Asp280= NP_001334636.1:p.Asp280= NP_001334636.1:p.Asp280Glu
neuronal acetylcholine receptor subunit alpha-2 isoform 4 NP_001334637.1:p.Asp280= NP_001334637.1:p.Asp280= NP_001334637.1:p.Asp280Glu
neuronal acetylcholine receptor subunit alpha-2 isoform X1 XP_011542691.1:p.Asp280= XP_011542691.1:p.Asp280= XP_011542691.1:p.Asp280Glu
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#.

52 SubSNP, 17 Frequency, 5 ClinVar submissions
No Submitter Submission ID Date (Build)
1 UUGC ss76901826 Dec 07, 2007 (129)
2 PERLEGEN ss161151690 Dec 01, 2009 (131)
3 1000GENOMES ss334772657 May 09, 2011 (134)
4 NHLBI-ESP ss342255716 May 09, 2011 (134)
5 1000GENOMES ss490962661 May 04, 2012 (137)
6 EXOME_CHIP ss491411857 May 04, 2012 (137)
7 CLINSEQ_SNP ss491923163 May 04, 2012 (137)
8 ILLUMINA ss780868665 Sep 08, 2015 (146)
9 ILLUMINA ss783553664 Sep 08, 2015 (146)
10 EVA-GONL ss985336397 Aug 21, 2014 (142)
11 1000GENOMES ss1329152871 Aug 21, 2014 (142)
12 CLINVAR ss1457616992 Nov 23, 2014 (142)
13 EVA_DECODE ss1594929038 Apr 01, 2015 (144)
14 EVA_UK10K_ALSPAC ss1620263922 Apr 01, 2015 (144)
15 EVA_UK10K_TWINSUK ss1663257955 Apr 01, 2015 (144)
16 EVA_EXAC ss1689143280 Apr 01, 2015 (144)
17 EVA_MGP ss1711197083 Apr 01, 2015 (144)
18 ILLUMINA ss1752727073 Sep 08, 2015 (146)
19 ILLUMINA ss1917827143 Feb 12, 2016 (147)
20 ILLUMINA ss1946233308 Feb 12, 2016 (147)
21 ILLUMINA ss1959099746 Feb 12, 2016 (147)
22 HUMAN_LONGEVITY ss2301783542 Dec 20, 2016 (150)
23 TOPMED ss2471440407 Dec 20, 2016 (150)
24 GNOMAD ss2737071109 Nov 08, 2017 (151)
25 GNOMAD ss2748022997 Nov 08, 2017 (151)
26 GNOMAD ss2864753972 Nov 08, 2017 (151)
27 AFFY ss2985435059 Nov 08, 2017 (151)
28 AFFY ss2986079014 Nov 08, 2017 (151)
29 SWEGEN ss3002899129 Nov 08, 2017 (151)
30 ILLUMINA ss3022832450 Nov 08, 2017 (151)
31 CSHL ss3348109197 Nov 08, 2017 (151)
32 TOPMED ss3557398014 Nov 08, 2017 (151)
33 ILLUMINA ss3630028338 Oct 12, 2018 (152)
34 ILLUMINA ss3635165528 Oct 12, 2018 (152)
35 ILLUMINA ss3640872818 Oct 12, 2018 (152)
36 ILLUMINA ss3644966495 Oct 12, 2018 (152)
37 ILLUMINA ss3653373723 Oct 12, 2018 (152)
38 ILLUMINA ss3654197018 Oct 12, 2018 (152)
39 EGCUT_WGS ss3670583347 Jul 13, 2019 (153)
40 EVA_DECODE ss3721677194 Jul 13, 2019 (153)
41 ILLUMINA ss3726526047 Jul 13, 2019 (153)
42 ACPOP ss3735520097 Jul 13, 2019 (153)
43 ILLUMINA ss3744578636 Jul 13, 2019 (153)
44 ILLUMINA ss3745465329 Jul 13, 2019 (153)
45 PAGE_CC ss3771433250 Jul 13, 2019 (153)
46 ILLUMINA ss3772957862 Jul 13, 2019 (153)
47 EVA ss3824358524 Apr 26, 2020 (154)
48 EVA ss3825738741 Apr 26, 2020 (154)
49 SGDP_PRJ ss3869562648 Apr 26, 2020 (154)
50 EVA ss3986418602 Apr 26, 2021 (155)
51 TOPMED ss4780088980 Apr 26, 2021 (155)
52 TOPMED ss4780088981 Apr 26, 2021 (155)
53 1000Genomes NC_000008.10 - 27320526 Oct 12, 2018 (152)
54 The Avon Longitudinal Study of Parents and Children NC_000008.10 - 27320526 Oct 12, 2018 (152)
55 Genetic variation in the Estonian population NC_000008.10 - 27320526 Oct 12, 2018 (152)
56 ExAC NC_000008.10 - 27320526 Oct 12, 2018 (152)
57 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 290884834 (NC_000008.11:27463008:G:A 1/140278)
Row 290884835 (NC_000008.11:27463008:G:T 455/140278)

- Apr 26, 2021 (155)
58 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 290884834 (NC_000008.11:27463008:G:A 1/140278)
Row 290884835 (NC_000008.11:27463008:G:T 455/140278)

- Apr 26, 2021 (155)
59 gnomAD - Exomes NC_000008.10 - 27320526 Jul 13, 2019 (153)
60 GO Exome Sequencing Project NC_000008.10 - 27320526 Oct 12, 2018 (152)
61 Genome of the Netherlands Release 5 NC_000008.10 - 27320526 Apr 26, 2020 (154)
62 Medical Genome Project healthy controls from Spanish population NC_000008.10 - 27320526 Apr 26, 2020 (154)
63 Northern Sweden NC_000008.10 - 27320526 Jul 13, 2019 (153)
64 The PAGE Study NC_000008.11 - 27463009 Jul 13, 2019 (153)
65 SGDP_PRJ NC_000008.10 - 27320526 Apr 26, 2020 (154)
66 TopMed

Submission ignored due to conflicting rows:
Row 617466540 (NC_000008.11:27463008:G:A 1/264690)
Row 617466541 (NC_000008.11:27463008:G:T 820/264690)

- Apr 26, 2021 (155)
67 TopMed

Submission ignored due to conflicting rows:
Row 617466540 (NC_000008.11:27463008:G:A 1/264690)
Row 617466541 (NC_000008.11:27463008:G:T 820/264690)

- Apr 26, 2021 (155)
68 UK 10K study - Twins NC_000008.10 - 27320526 Oct 12, 2018 (152)
69 ALFA NC_000008.11 - 27463009 Apr 26, 2021 (155)
70 ClinVar RCV000124278.3 Oct 12, 2018 (152)
71 ClinVar RCV000419685.4 Apr 26, 2021 (155)
72 ClinVar RCV000717520.1 Jul 13, 2019 (153)
73 ClinVar RCV000768183.3 Apr 26, 2021 (155)
74 ClinVar RCV001080927.1 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).

Added to this RefSNP Cluster:
Submission IDs Observation SPDI Canonical SPDI Source RSIDs
ss2748022997, ss2864753972 NC_000008.10:27320525:G:A NC_000008.11:27463008:G:A (self)
4603720562, ss4780088980 NC_000008.11:27463008:G:A NC_000008.11:27463008:G:A
ss491923163, ss1594929038 NC_000008.9:27376442:G:T NC_000008.11:27463008:G:T (self)
41255165, 22938962, 16321595, 9239098, 6241038, 816370, 10249075, 312843, 8804962, 21579628, 22938962, ss334772657, ss342255716, ss490962661, ss491411857, ss780868665, ss783553664, ss985336397, ss1329152871, ss1620263922, ss1663257955, ss1689143280, ss1711197083, ss1752727073, ss1917827143, ss1946233308, ss1959099746, ss2471440407, ss2737071109, ss2748022997, ss2864753972, ss2985435059, ss2986079014, ss3002899129, ss3022832450, ss3348109197, ss3630028338, ss3635165528, ss3640872818, ss3644966495, ss3653373723, ss3654197018, ss3670583347, ss3735520097, ss3744578636, ss3745465329, ss3772957862, ss3824358524, ss3825738741, ss3869562648, ss3986418602 NC_000008.10:27320525:G:T NC_000008.11:27463008:G:T (self)
RCV000124278.3, RCV000419685.4, RCV000717520.1, RCV000768183.3, RCV001080927.1, 654719, 385907185, 4603720562, ss1457616992, ss2301783542, ss3557398014, ss3721677194, ss3726526047, ss3771433250, ss4780088981 NC_000008.11:27463008:G:T NC_000008.11:27463008:G:T (self)
ss76901826, ss161151690 NT_167187.1:15178671:G:T NC_000008.11:27463008: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.

3 citations for rs56344740
PMID Title Author Year Journal
24950454 Two rare variations, D478N and D478E, that occur at the same amino acid residue in nicotinic acetylcholine receptor (nAChR) α2 subunit influence nAChR function. Dash B et al. 2014 Neuropharmacology
25741868 Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. Richards S et al. 2015 Genetics in medicine
27166759 Converging findings from linkage and association analyses on susceptibility genes for smoking and other addictions. Yang J et al. 2016 Molecular psychiatry
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.post596+ae089ad