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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.

rs2472553

Current Build 156

Released September 21, 2022

Organism
Homo sapiens
Position
chr8:27470994 (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 / G>C / G>T
Variation Type
SNV Single Nucleotide Variation
Frequency
A=0.136405 (47951/351534, ALFA)
A=0.166139 (41628/250562, GnomAD_exome)
A=0.164678 (19926/121000, ExAC) (+ 24 more)
A=0.19635 (15451/78690, PAGE_STUDY)
A=0.43743 (12361/28258, 14KJPN)
A=0.43741 (7331/16760, 8.3KJPN)
A=0.14878 (1935/13006, GO-ESP)
A=0.2199 (1408/6404, 1000G_30x)
A=0.2210 (1107/5008, 1000G)
A=0.1462 (655/4480, Estonian)
A=0.1300 (501/3854, ALSPAC)
A=0.1383 (513/3708, TWINSUK)
G=0.4785 (1402/2930, KOREAN)
A=0.2056 (426/2072, HGDP_Stanford)
A=0.2476 (463/1870, HapMap)
G=0.4934 (904/1832, Korea1K)
A=0.138 (138/998, GoNL)
A=0.494 (389/788, PRJEB37584)
A=0.355 (218/614, Vietnamese)
A=0.142 (85/600, NorthernSweden)
A=0.135 (72/534, MGP)
A=0.139 (42/302, FINRISK)
A=0.056 (12/216, Qatari)
G=0.424 (89/210, SGDP_PRJ)
A=0.11 (6/54, Ancient Sardinia)
A=0.15 (6/40, GENOME_DK)
G=0.35 (9/26, Siberian)
Clinical Significance
Reported in ClinVar
Gene : Consequence
CHRNA2 : Missense Variant
Publications
11 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 367956 G=0.863576 A=0.136424, T=0.000000
European Sub 310954 G=0.873210 A=0.126790, T=0.000000
African Sub 13012 G=0.85559 A=0.14441, T=0.00000
African Others Sub 480 G=0.833 A=0.167, T=0.000
African American Sub 12532 G=0.85645 A=0.14355, T=0.00000
Asian Sub 6834 G=0.5315 A=0.4685, T=0.0000
East Asian Sub 4888 G=0.5020 A=0.4980, T=0.0000
Other Asian Sub 1946 G=0.6053 A=0.3947, T=0.0000
Latin American 1 Sub 1456 G=0.8970 A=0.1030, T=0.0000
Latin American 2 Sub 7020 G=0.8275 A=0.1725, T=0.0000
South Asian Sub 5206 G=0.8803 A=0.1197, T=0.0000
Other Sub 23474 G=0.84208 A=0.15792, T=0.00000


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
Allele Frequency Aggregator Total Global 351534 G=0.863595 A=0.136405, T=0.000000
Allele Frequency Aggregator European Sub 300816 G=0.873218 A=0.126782, T=0.000000
Allele Frequency Aggregator Other Sub 22028 G=0.83943 A=0.16057, T=0.00000
Allele Frequency Aggregator African Sub 8174 G=0.8667 A=0.1333, T=0.0000
Allele Frequency Aggregator Latin American 2 Sub 7020 G=0.8275 A=0.1725, T=0.0000
Allele Frequency Aggregator Asian Sub 6834 G=0.5315 A=0.4685, T=0.0000
Allele Frequency Aggregator South Asian Sub 5206 G=0.8803 A=0.1197, T=0.0000
Allele Frequency Aggregator Latin American 1 Sub 1456 G=0.8970 A=0.1030, T=0.0000
gnomAD - Exomes Global Study-wide 250562 G=0.833861 A=0.166139
gnomAD - Exomes European Sub 134612 G=0.863155 A=0.136845
gnomAD - Exomes Asian Sub 48970 G=0.75205 A=0.24795
gnomAD - Exomes American Sub 34544 G=0.80567 A=0.19433
gnomAD - Exomes African Sub 16242 G=0.82576 A=0.17424
gnomAD - Exomes Ashkenazi Jewish Sub 10064 G=0.93452 A=0.06548
gnomAD - Exomes Other Sub 6130 G=0.8592 A=0.1408
ExAC Global Study-wide 121000 G=0.835322 A=0.164678
ExAC Europe Sub 73106 G=0.86747 A=0.13253
ExAC Asian Sub 25106 G=0.75966 A=0.24034
ExAC American Sub 11522 G=0.80090 A=0.19910
ExAC African Sub 10362 G=0.82996 A=0.17004
ExAC Other Sub 904 G=0.837 A=0.163
The PAGE Study Global Study-wide 78690 G=0.80365 A=0.19635
The PAGE Study AfricanAmerican Sub 32510 G=0.82750 A=0.17250
The PAGE Study Mexican Sub 10810 G=0.82285 A=0.17715
The PAGE Study Asian Sub 8316 G=0.5736 A=0.4264
The PAGE Study PuertoRican Sub 7918 G=0.8805 A=0.1195
The PAGE Study NativeHawaiian Sub 4532 G=0.7562 A=0.2438
The PAGE Study Cuban Sub 4230 G=0.8740 A=0.1260
The PAGE Study Dominican Sub 3826 G=0.8594 A=0.1406
The PAGE Study CentralAmerican Sub 2450 G=0.7771 A=0.2229
The PAGE Study SouthAmerican Sub 1982 G=0.7977 A=0.2023
The PAGE Study NativeAmerican Sub 1260 G=0.8587 A=0.1413
The PAGE Study SouthAsian Sub 856 G=0.842 A=0.158
14KJPN JAPANESE Study-wide 28258 G=0.56257 A=0.43743
8.3KJPN JAPANESE Study-wide 16760 G=0.56259 A=0.43741
GO Exome Sequencing Project Global Study-wide 13006 G=0.85122 A=0.14878
GO Exome Sequencing Project European American Sub 8600 G=0.8692 A=0.1308
GO Exome Sequencing Project African American Sub 4406 G=0.8162 A=0.1838
1000Genomes_30x Global Study-wide 6404 G=0.7801 A=0.2199
1000Genomes_30x African Sub 1786 G=0.8001 A=0.1999
1000Genomes_30x Europe Sub 1266 G=0.8578 A=0.1422
1000Genomes_30x South Asian Sub 1202 G=0.8536 A=0.1464
1000Genomes_30x East Asian Sub 1170 G=0.5650 A=0.4350
1000Genomes_30x American Sub 980 G=0.810 A=0.190
1000Genomes Global Study-wide 5008 G=0.7790 A=0.2210
1000Genomes African Sub 1322 G=0.8079 A=0.1921
1000Genomes East Asian Sub 1008 G=0.5675 A=0.4325
1000Genomes Europe Sub 1006 G=0.8628 A=0.1372
1000Genomes South Asian Sub 978 G=0.853 A=0.147
1000Genomes American Sub 694 G=0.805 A=0.195
Genetic variation in the Estonian population Estonian Study-wide 4480 G=0.8538 A=0.1462
The Avon Longitudinal Study of Parents and Children PARENT AND CHILD COHORT Study-wide 3854 G=0.8700 A=0.1300
UK 10K study - Twins TWIN COHORT Study-wide 3708 G=0.8617 A=0.1383
KOREAN population from KRGDB KOREAN Study-wide 2930 G=0.4785 A=0.5215, C=0.0000, T=0.0000
HGDP-CEPH-db Supplement 1 Global Study-wide 2072 G=0.7944 A=0.2056
HGDP-CEPH-db Supplement 1 Est_Asia Sub 468 G=0.566 A=0.434
HGDP-CEPH-db Supplement 1 Central_South_Asia Sub 412 G=0.833 A=0.167
HGDP-CEPH-db Supplement 1 Middle_Est Sub 348 G=0.948 A=0.052
HGDP-CEPH-db Supplement 1 Europe Sub 320 G=0.881 A=0.119
HGDP-CEPH-db Supplement 1 Africa Sub 238 G=0.769 A=0.231
HGDP-CEPH-db Supplement 1 America Sub 216 G=0.810 A=0.190
HGDP-CEPH-db Supplement 1 Oceania Sub 70 G=0.97 A=0.03
HapMap Global Study-wide 1870 G=0.7524 A=0.2476
HapMap American Sub 764 G=0.755 A=0.245
HapMap African Sub 682 G=0.805 A=0.195
HapMap Asian Sub 250 G=0.476 A=0.524
HapMap Europe Sub 174 G=0.931 A=0.069
Korean Genome Project KOREAN Study-wide 1832 G=0.4934 A=0.5066
Genome of the Netherlands Release 5 Genome of the Netherlands Study-wide 998 G=0.862 A=0.138
CNV burdens in cranial meningiomas Global Study-wide 788 G=0.506 A=0.494
CNV burdens in cranial meningiomas CRM Sub 788 G=0.506 A=0.494
A Vietnamese Genetic Variation Database Global Study-wide 614 G=0.645 A=0.355
Northern Sweden ACPOP Study-wide 600 G=0.858 A=0.142
Medical Genome Project healthy controls from Spanish population Spanish controls Study-wide 534 G=0.865 A=0.135
FINRISK Finnish from FINRISK project Study-wide 302 G=0.861 A=0.139
Qatari Global Study-wide 216 G=0.944 A=0.056
SGDP_PRJ Global Study-wide 210 G=0.424 A=0.576
Ancient Sardinia genome-wide 1240k capture data generation and analysis Global Study-wide 54 G=0.89 A=0.11
The Danish reference pan genome Danish Study-wide 40 G=0.85 A=0.15
Siberian Global Study-wide 26 G=0.35 A=0.65
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 8 NC_000008.11:g.27470994G>A
GRCh38.p14 chr 8 NC_000008.11:g.27470994G>C
GRCh38.p14 chr 8 NC_000008.11:g.27470994G>T
GRCh37.p13 chr 8 NC_000008.10:g.27328511G>A
GRCh37.p13 chr 8 NC_000008.10:g.27328511G>C
GRCh37.p13 chr 8 NC_000008.10:g.27328511G>T
CHRNA2 RefSeqGene NG_015827.1:g.13303C>T
CHRNA2 RefSeqGene NG_015827.1:g.13303C>G
CHRNA2 RefSeqGene NG_015827.1:g.13303C>A
Gene: CHRNA2, cholinergic receptor nicotinic alpha 2 subunit (minus strand)
Molecule type Change Amino acid[Codon] SO Term
CHRNA2 transcript variant 3 NM_001347705.2:c.-363= N/A 5 Prime UTR Variant
CHRNA2 transcript variant 6 NM_001347708.2:c.-397= N/A 5 Prime UTR Variant
CHRNA2 transcript variant 5 NM_001347707.2:c.-349= N/A 5 Prime UTR Variant
CHRNA2 transcript variant 4 NM_001347706.2:c.-408= N/A 5 Prime UTR Variant
CHRNA2 transcript variant 1 NM_000742.4:c.65C>T T [ACC] > I [ATC] Coding Sequence Variant
neuronal acetylcholine receptor subunit alpha-2 isoform 1 precursor NP_000733.2:p.Thr22Ile T (Thr) > I (Ile) Missense Variant
CHRNA2 transcript variant 1 NM_000742.4:c.65C>G T [ACC] > S [AGC] Coding Sequence Variant
neuronal acetylcholine receptor subunit alpha-2 isoform 1 precursor NP_000733.2:p.Thr22Ser T (Thr) > S (Ser) Missense Variant
CHRNA2 transcript variant 1 NM_000742.4:c.65C>A T [ACC] > N [AAC] Coding Sequence Variant
neuronal acetylcholine receptor subunit alpha-2 isoform 1 precursor NP_000733.2:p.Thr22Asn T (Thr) > N (Asn) Missense Variant
CHRNA2 transcript variant 2 NM_001282455.2:c.65C>T T [ACC] > I [ATC] Coding Sequence Variant
neuronal acetylcholine receptor subunit alpha-2 isoform 2 precursor NP_001269384.1:p.Thr22Ile T (Thr) > I (Ile) Missense Variant
CHRNA2 transcript variant 2 NM_001282455.2:c.65C>G T [ACC] > S [AGC] Coding Sequence Variant
neuronal acetylcholine receptor subunit alpha-2 isoform 2 precursor NP_001269384.1:p.Thr22Ser T (Thr) > S (Ser) Missense Variant
CHRNA2 transcript variant 2 NM_001282455.2:c.65C>A T [ACC] > N [AAC] Coding Sequence Variant
neuronal acetylcholine receptor subunit alpha-2 isoform 2 precursor NP_001269384.1:p.Thr22Asn T (Thr) > N (Asn) Missense Variant
CHRNA2 transcript variant X1 XM_047421311.1:c.65C>T T [ACC] > I [ATC] Coding Sequence Variant
neuronal acetylcholine receptor subunit alpha-2 isoform X1 XP_047277267.1:p.Thr22Ile T (Thr) > I (Ile) Missense Variant
CHRNA2 transcript variant X1 XM_047421311.1:c.65C>G T [ACC] > S [AGC] Coding Sequence Variant
neuronal acetylcholine receptor subunit alpha-2 isoform X1 XP_047277267.1:p.Thr22Ser T (Thr) > S (Ser) Missense Variant
CHRNA2 transcript variant X1 XM_047421311.1:c.65C>A T [ACC] > N [AAC] Coding Sequence Variant
neuronal acetylcholine receptor subunit alpha-2 isoform X1 XP_047277267.1:p.Thr22Asn T (Thr) > N (Asn) Missense Variant
CHRNA2 transcript variant X2 XM_047421312.1:c.65C>T T [ACC] > I [ATC] Coding Sequence Variant
neuronal acetylcholine receptor subunit alpha-2 isoform X1 XP_047277268.1:p.Thr22Ile T (Thr) > I (Ile) Missense Variant
CHRNA2 transcript variant X2 XM_047421312.1:c.65C>G T [ACC] > S [AGC] Coding Sequence Variant
neuronal acetylcholine receptor subunit alpha-2 isoform X1 XP_047277268.1:p.Thr22Ser T (Thr) > S (Ser) Missense Variant
CHRNA2 transcript variant X2 XM_047421312.1:c.65C>A T [ACC] > N [AAC] Coding Sequence Variant
neuronal acetylcholine receptor subunit alpha-2 isoform X1 XP_047277268.1:p.Thr22Asn T (Thr) > N (Asn) Missense Variant
CHRNA2 transcript variant X3 XM_047421313.1:c.65C>T T [ACC] > I [ATC] Coding Sequence Variant
neuronal acetylcholine receptor subunit alpha-2 isoform X1 XP_047277269.1:p.Thr22Ile T (Thr) > I (Ile) Missense Variant
CHRNA2 transcript variant X3 XM_047421313.1:c.65C>G T [ACC] > S [AGC] Coding Sequence Variant
neuronal acetylcholine receptor subunit alpha-2 isoform X1 XP_047277269.1:p.Thr22Ser T (Thr) > S (Ser) Missense Variant
CHRNA2 transcript variant X3 XM_047421313.1:c.65C>A T [ACC] > N [AAC] Coding Sequence Variant
neuronal acetylcholine receptor subunit alpha-2 isoform X1 XP_047277269.1:p.Thr22Asn T (Thr) > N (Asn) 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: A (allele ID: 134189 )
ClinVar Accession Disease Names Clinical Significance
RCV000116713.12 not specified Benign
RCV000295942.4 Autosomal dominant nocturnal frontal lobe epilepsy 4 Benign
RCV000715431.2 Seizure Benign
RCV001510319.4 Autosomal dominant nocturnal frontal lobe epilepsy Benign
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 C T
GRCh38.p14 chr 8 NC_000008.11:g.27470994= NC_000008.11:g.27470994G>A NC_000008.11:g.27470994G>C NC_000008.11:g.27470994G>T
GRCh37.p13 chr 8 NC_000008.10:g.27328511= NC_000008.10:g.27328511G>A NC_000008.10:g.27328511G>C NC_000008.10:g.27328511G>T
CHRNA2 RefSeqGene NG_015827.1:g.13303= NG_015827.1:g.13303C>T NG_015827.1:g.13303C>G NG_015827.1:g.13303C>A
CHRNA2 transcript variant 1 NM_000742.4:c.65= NM_000742.4:c.65C>T NM_000742.4:c.65C>G NM_000742.4:c.65C>A
CHRNA2 transcript variant 1 NM_000742.3:c.65= NM_000742.3:c.65C>T NM_000742.3:c.65C>G NM_000742.3:c.65C>A
CHRNA2 transcript variant 4 NM_001347706.2:c.-408= NM_001347706.2:c.-408C>T NM_001347706.2:c.-408C>G NM_001347706.2:c.-408C>A
CHRNA2 transcript variant 4 NM_001347706.1:c.-408= NM_001347706.1:c.-408C>T NM_001347706.1:c.-408C>G NM_001347706.1:c.-408C>A
CHRNA2 transcript variant 2 NM_001282455.2:c.65= NM_001282455.2:c.65C>T NM_001282455.2:c.65C>G NM_001282455.2:c.65C>A
CHRNA2 transcript variant 2 NM_001282455.1:c.65= NM_001282455.1:c.65C>T NM_001282455.1:c.65C>G NM_001282455.1:c.65C>A
CHRNA2 transcript variant 3 NM_001347705.2:c.-363= NM_001347705.2:c.-363C>T NM_001347705.2:c.-363C>G NM_001347705.2:c.-363C>A
CHRNA2 transcript variant 3 NM_001347705.1:c.-363= NM_001347705.1:c.-363C>T NM_001347705.1:c.-363C>G NM_001347705.1:c.-363C>A
CHRNA2 transcript variant 5 NM_001347707.2:c.-349= NM_001347707.2:c.-349C>T NM_001347707.2:c.-349C>G NM_001347707.2:c.-349C>A
CHRNA2 transcript variant 5 NM_001347707.1:c.-349= NM_001347707.1:c.-349C>T NM_001347707.1:c.-349C>G NM_001347707.1:c.-349C>A
CHRNA2 transcript variant 6 NM_001347708.2:c.-397= NM_001347708.2:c.-397C>T NM_001347708.2:c.-397C>G NM_001347708.2:c.-397C>A
CHRNA2 transcript variant 6 NM_001347708.1:c.-397= NM_001347708.1:c.-397C>T NM_001347708.1:c.-397C>G NM_001347708.1:c.-397C>A
CHRNA2 transcript variant X2 XM_047421312.1:c.65= XM_047421312.1:c.65C>T XM_047421312.1:c.65C>G XM_047421312.1:c.65C>A
CHRNA2 transcript variant X1 XM_047421311.1:c.65= XM_047421311.1:c.65C>T XM_047421311.1:c.65C>G XM_047421311.1:c.65C>A
CHRNA2 transcript variant X3 XM_047421313.1:c.65= XM_047421313.1:c.65C>T XM_047421313.1:c.65C>G XM_047421313.1:c.65C>A
neuronal acetylcholine receptor subunit alpha-2 isoform 1 precursor NP_000733.2:p.Thr22= NP_000733.2:p.Thr22Ile NP_000733.2:p.Thr22Ser NP_000733.2:p.Thr22Asn
neuronal acetylcholine receptor subunit alpha-2 isoform 2 precursor NP_001269384.1:p.Thr22= NP_001269384.1:p.Thr22Ile NP_001269384.1:p.Thr22Ser NP_001269384.1:p.Thr22Asn
neuronal acetylcholine receptor subunit alpha-2 isoform X1 XP_047277268.1:p.Thr22= XP_047277268.1:p.Thr22Ile XP_047277268.1:p.Thr22Ser XP_047277268.1:p.Thr22Asn
neuronal acetylcholine receptor subunit alpha-2 isoform X1 XP_047277267.1:p.Thr22= XP_047277267.1:p.Thr22Ile XP_047277267.1:p.Thr22Ser XP_047277267.1:p.Thr22Asn
neuronal acetylcholine receptor subunit alpha-2 isoform X1 XP_047277269.1:p.Thr22= XP_047277269.1:p.Thr22Ile XP_047277269.1:p.Thr22Ser XP_047277269.1:p.Thr22Asn
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#.

170 SubSNP, 31 Frequency, 4 ClinVar submissions
No Submitter Submission ID Date (Build)
1 SC_JCM ss3465405 Sep 28, 2001 (100)
2 WI_SSAHASNP ss14332909 Dec 05, 2003 (119)
3 CSHL-HAPMAP ss17229104 Feb 27, 2004 (120)
4 CSHL-HAPMAP ss19760835 Feb 27, 2004 (120)
5 SSAHASNP ss22741011 Apr 05, 2004 (121)
6 ILLUMINA ss65726943 Oct 14, 2006 (127)
7 ILLUMINA ss66557409 Nov 30, 2006 (127)
8 ILLUMINA ss67256445 Nov 30, 2006 (127)
9 ILLUMINA ss67654878 Nov 30, 2006 (127)
10 PERLEGEN ss69045360 May 17, 2007 (127)
11 ILLUMINA ss70734798 May 23, 2008 (130)
12 ILLUMINA ss71304800 May 17, 2007 (127)
13 ILLUMINA ss75808017 Dec 07, 2007 (129)
14 UUGC ss76901603 Dec 07, 2007 (129)
15 HGSV ss77565754 Dec 07, 2007 (129)
16 ILLUMINA ss79136422 Dec 14, 2007 (130)
17 HGSV ss84049617 Dec 14, 2007 (130)
18 KRIBB_YJKIM ss84052250 Dec 14, 2007 (130)
19 HUMANGENOME_JCVI ss98061232 Feb 04, 2009 (130)
20 SHGC ss99307550 Feb 04, 2009 (130)
21 BGI ss104517831 Dec 01, 2009 (131)
22 1000GENOMES ss112939180 Jan 25, 2009 (130)
23 1000GENOMES ss115184319 Jan 25, 2009 (130)
24 ILLUMINA-UK ss115875493 Feb 14, 2009 (130)
25 ILLUMINA ss122043434 Dec 01, 2009 (131)
26 ENSEMBL ss134440240 Dec 01, 2009 (131)
27 ILLUMINA ss153914690 Dec 01, 2009 (131)
28 ILLUMINA ss159392490 Dec 01, 2009 (131)
29 SEATTLESEQ ss159716719 Dec 01, 2009 (131)
30 ILLUMINA ss160550946 Dec 01, 2009 (131)
31 PERLEGEN ss161151708 Dec 01, 2009 (131)
32 COMPLETE_GENOMICS ss162273273 Jul 04, 2010 (132)
33 COMPLETE_GENOMICS ss164262734 Jul 04, 2010 (132)
34 ILLUMINA ss171271519 Jul 04, 2010 (132)
35 ILLUMINA ss173361760 Jul 04, 2010 (132)
36 BUSHMAN ss198962040 Jul 04, 2010 (132)
37 1000GENOMES ss223619568 Jul 14, 2010 (132)
38 1000GENOMES ss234377585 Jul 15, 2010 (132)
39 1000GENOMES ss241246866 Jul 15, 2010 (132)
40 GMI ss279747203 May 04, 2012 (137)
41 PJP ss294245999 May 09, 2011 (134)
42 NHLBI-ESP ss342255754 May 09, 2011 (134)
43 ILLUMINA ss410923461 Sep 17, 2011 (135)
44 ILLUMINA ss480579817 May 04, 2012 (137)
45 ILLUMINA ss480594350 May 04, 2012 (137)
46 ILLUMINA ss481418045 Sep 08, 2015 (146)
47 ILLUMINA ss485085436 May 04, 2012 (137)
48 1000GENOMES ss490962673 May 04, 2012 (137)
49 EXOME_CHIP ss491411872 May 04, 2012 (137)
50 CLINSEQ_SNP ss491923175 May 04, 2012 (137)
51 ILLUMINA ss537094951 Sep 08, 2015 (146)
52 TISHKOFF ss560641385 Apr 25, 2013 (138)
53 SSMP ss655076086 Apr 25, 2013 (138)
54 ILLUMINA ss778870283 Aug 21, 2014 (142)
55 ILLUMINA ss780868674 Sep 08, 2015 (146)
56 ILLUMINA ss782988994 Aug 21, 2014 (142)
57 ILLUMINA ss783553673 Sep 08, 2015 (146)
58 ILLUMINA ss783949832 Aug 21, 2014 (142)
59 ILLUMINA ss825466940 Apr 01, 2015 (144)
60 ILLUMINA ss832245757 Apr 01, 2015 (144)
61 ILLUMINA ss832904231 Aug 21, 2014 (142)
62 ILLUMINA ss833495061 Aug 21, 2014 (142)
63 ILLUMINA ss834331171 Aug 21, 2014 (142)
64 JMKIDD_LAB ss974467709 Aug 21, 2014 (142)
65 EVA-GONL ss985336465 Aug 21, 2014 (142)
66 JMKIDD_LAB ss1067496640 Aug 21, 2014 (142)
67 JMKIDD_LAB ss1075387648 Aug 21, 2014 (142)
68 1000GENOMES ss1329153131 Aug 21, 2014 (142)
69 CLINVAR ss1457613777 Nov 23, 2014 (142)
70 EVA_GENOME_DK ss1582619344 Apr 01, 2015 (144)
71 EVA_FINRISK ss1584057813 Apr 01, 2015 (144)
72 EVA_DECODE ss1594929123 Apr 01, 2015 (144)
73 EVA_UK10K_ALSPAC ss1620264076 Apr 01, 2015 (144)
74 EVA_UK10K_TWINSUK ss1663258109 Apr 01, 2015 (144)
75 EVA_EXAC ss1689143664 Apr 01, 2015 (144)
76 EVA_MGP ss1711197097 Apr 01, 2015 (144)
77 EVA_SVP ss1713026113 Apr 01, 2015 (144)
78 ILLUMINA ss1752727088 Sep 08, 2015 (146)
79 ILLUMINA ss1752727089 Sep 08, 2015 (146)
80 HAMMER_LAB ss1805461633 Sep 08, 2015 (146)
81 ILLUMINA ss1917827153 Feb 12, 2016 (147)
82 WEILL_CORNELL_DGM ss1928625256 Feb 12, 2016 (147)
83 ILLUMINA ss1946233321 Feb 12, 2016 (147)
84 ILLUMINA ss1959099773 Feb 12, 2016 (147)
85 GENOMED ss1970945058 Jul 19, 2016 (147)
86 JJLAB ss2025015293 Sep 14, 2016 (149)
87 USC_VALOUEV ss2153236986 Dec 20, 2016 (150)
88 HUMAN_LONGEVITY ss2301784081 Dec 20, 2016 (150)
89 SYSTEMSBIOZJU ss2626991269 Nov 08, 2017 (151)
90 ILLUMINA ss2634729360 Nov 08, 2017 (151)
91 ILLUMINA ss2634729361 Nov 08, 2017 (151)
92 GRF ss2708998927 Nov 08, 2017 (151)
93 GNOMAD ss2737071649 Nov 08, 2017 (151)
94 GNOMAD ss2748023172 Nov 08, 2017 (151)
95 GNOMAD ss2864754654 Nov 08, 2017 (151)
96 AFFY ss2985435076 Nov 08, 2017 (151)
97 AFFY ss2986079061 Nov 08, 2017 (151)
98 SWEGEN ss3002899229 Nov 08, 2017 (151)
99 ILLUMINA ss3022832473 Nov 08, 2017 (151)
100 BIOINF_KMB_FNS_UNIBA ss3026298734 Nov 08, 2017 (151)
101 CSHL ss3348109231 Nov 08, 2017 (151)
102 ILLUMINA ss3630028364 Oct 12, 2018 (152)
103 ILLUMINA ss3630028365 Oct 12, 2018 (152)
104 ILLUMINA ss3632629429 Oct 12, 2018 (152)
105 ILLUMINA ss3633496166 Oct 12, 2018 (152)
106 ILLUMINA ss3634222748 Oct 12, 2018 (152)
107 ILLUMINA ss3635165543 Oct 12, 2018 (152)
108 ILLUMINA ss3635165544 Oct 12, 2018 (152)
109 ILLUMINA ss3635901646 Oct 12, 2018 (152)
110 ILLUMINA ss3636902751 Oct 12, 2018 (152)
111 ILLUMINA ss3637654799 Oct 12, 2018 (152)
112 ILLUMINA ss3638751986 Oct 12, 2018 (152)
113 ILLUMINA ss3639378751 Oct 12, 2018 (152)
114 ILLUMINA ss3639718303 Oct 12, 2018 (152)
115 ILLUMINA ss3640872833 Oct 12, 2018 (152)
116 ILLUMINA ss3640872834 Oct 12, 2018 (152)
117 ILLUMINA ss3643683507 Oct 12, 2018 (152)
118 ILLUMINA ss3644966507 Oct 12, 2018 (152)
119 OMUKHERJEE_ADBS ss3646373933 Oct 12, 2018 (152)
120 URBANLAB ss3648881682 Oct 12, 2018 (152)
121 ILLUMINA ss3653373747 Oct 12, 2018 (152)
122 ILLUMINA ss3654197035 Oct 12, 2018 (152)
123 EGCUT_WGS ss3670583468 Jul 13, 2019 (153)
124 EVA_DECODE ss3721677303 Jul 13, 2019 (153)
125 ILLUMINA ss3726526067 Jul 13, 2019 (153)
126 ACPOP ss3735520153 Jul 13, 2019 (153)
127 ILLUMINA ss3744578646 Jul 13, 2019 (153)
128 ILLUMINA ss3745465344 Jul 13, 2019 (153)
129 ILLUMINA ss3745465345 Jul 13, 2019 (153)
130 EVA ss3767793499 Jul 13, 2019 (153)
131 PAGE_CC ss3771433266 Jul 13, 2019 (153)
132 ILLUMINA ss3772957877 Jul 13, 2019 (153)
133 ILLUMINA ss3772957878 Jul 13, 2019 (153)
134 KHV_HUMAN_GENOMES ss3810954879 Jul 13, 2019 (153)
135 EVA ss3824358604 Apr 26, 2020 (154)
136 EVA ss3825738752 Apr 26, 2020 (154)
137 EVA ss3831086000 Apr 26, 2020 (154)
138 HGDP ss3847909210 Apr 26, 2020 (154)
139 SGDP_PRJ ss3869562773 Apr 26, 2020 (154)
140 KRGDB ss3916998123 Apr 26, 2020 (154)
141 KOGIC ss3963523328 Apr 26, 2020 (154)
142 FSA-LAB ss3984396121 Apr 26, 2021 (155)
143 EVA ss3984603340 Apr 26, 2021 (155)
144 EVA ss3985351455 Apr 26, 2021 (155)
145 EVA ss3986418623 Apr 26, 2021 (155)
146 TOPMED ss4780091088 Apr 26, 2021 (155)
147 TOPMED ss4780091089 Apr 26, 2021 (155)
148 TOMMO_GENOMICS ss5187917385 Apr 26, 2021 (155)
149 EVA ss5237041725 Apr 26, 2021 (155)
150 EVA ss5237651173 Oct 16, 2022 (156)
151 1000G_HIGH_COVERAGE ss5276537967 Oct 16, 2022 (156)
152 TRAN_CS_UWATERLOO ss5314422916 Oct 16, 2022 (156)
153 EVA ss5315322389 Oct 16, 2022 (156)
154 EVA ss5380026530 Oct 16, 2022 (156)
155 HUGCELL_USP ss5473169185 Oct 16, 2022 (156)
156 1000G_HIGH_COVERAGE ss5566564143 Oct 16, 2022 (156)
157 EVA ss5624176867 Oct 16, 2022 (156)
158 SANFORD_IMAGENETICS ss5624689925 Oct 16, 2022 (156)
159 SANFORD_IMAGENETICS ss5645042910 Oct 16, 2022 (156)
160 TOMMO_GENOMICS ss5729610947 Oct 16, 2022 (156)
161 EVA ss5799752393 Oct 16, 2022 (156)
162 YY_MCH ss5809567767 Oct 16, 2022 (156)
163 EVA ss5830306040 Oct 16, 2022 (156)
164 EVA ss5847336642 Oct 16, 2022 (156)
165 EVA ss5848171970 Oct 16, 2022 (156)
166 EVA ss5848704105 Oct 16, 2022 (156)
167 EVA ss5856312961 Oct 16, 2022 (156)
168 EVA ss5888264210 Oct 16, 2022 (156)
169 EVA ss5974229799 Oct 16, 2022 (156)
170 EVA ss5979858693 Oct 16, 2022 (156)
171 1000Genomes NC_000008.10 - 27328511 Oct 12, 2018 (152)
172 1000Genomes_30x NC_000008.11 - 27470994 Oct 16, 2022 (156)
173 The Avon Longitudinal Study of Parents and Children NC_000008.10 - 27328511 Oct 12, 2018 (152)
174 Genetic variation in the Estonian population NC_000008.10 - 27328511 Oct 12, 2018 (152)
175 ExAC NC_000008.10 - 27328511 Oct 12, 2018 (152)
176 FINRISK NC_000008.10 - 27328511 Apr 26, 2020 (154)
177 The Danish reference pan genome NC_000008.10 - 27328511 Apr 26, 2020 (154)
178 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 290886502 (NC_000008.11:27470993:G:A 21841/140120)
Row 290886503 (NC_000008.11:27470993:G:T 1/140156)

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

Submission ignored due to conflicting rows:
Row 290886502 (NC_000008.11:27470993:G:A 21841/140120)
Row 290886503 (NC_000008.11:27470993:G:T 1/140156)

- Apr 26, 2021 (155)
180 gnomAD - Exomes NC_000008.10 - 27328511 Jul 13, 2019 (153)
181 GO Exome Sequencing Project NC_000008.10 - 27328511 Oct 12, 2018 (152)
182 Genome of the Netherlands Release 5 NC_000008.10 - 27328511 Apr 26, 2020 (154)
183 HGDP-CEPH-db Supplement 1 NC_000008.9 - 27384428 Apr 26, 2020 (154)
184 HapMap NC_000008.11 - 27470994 Apr 26, 2020 (154)
185 KOREAN population from KRGDB NC_000008.10 - 27328511 Apr 26, 2020 (154)
186 Korean Genome Project NC_000008.11 - 27470994 Apr 26, 2020 (154)
187 Medical Genome Project healthy controls from Spanish population NC_000008.10 - 27328511 Apr 26, 2020 (154)
188 Northern Sweden NC_000008.10 - 27328511 Jul 13, 2019 (153)
189 The PAGE Study NC_000008.11 - 27470994 Jul 13, 2019 (153)
190 Ancient Sardinia genome-wide 1240k capture data generation and analysis NC_000008.10 - 27328511 Apr 26, 2021 (155)
191 CNV burdens in cranial meningiomas NC_000008.10 - 27328511 Apr 26, 2021 (155)
192 Qatari NC_000008.10 - 27328511 Apr 26, 2020 (154)
193 SGDP_PRJ NC_000008.10 - 27328511 Apr 26, 2020 (154)
194 Siberian NC_000008.10 - 27328511 Apr 26, 2020 (154)
195 8.3KJPN NC_000008.10 - 27328511 Apr 26, 2021 (155)
196 14KJPN NC_000008.11 - 27470994 Oct 16, 2022 (156)
197 TopMed

Submission ignored due to conflicting rows:
Row 617468648 (NC_000008.11:27470993:G:A 42359/264690)
Row 617468649 (NC_000008.11:27470993:G:T 1/264690)

- Apr 26, 2021 (155)
198 TopMed

Submission ignored due to conflicting rows:
Row 617468648 (NC_000008.11:27470993:G:A 42359/264690)
Row 617468649 (NC_000008.11:27470993:G:T 1/264690)

- Apr 26, 2021 (155)
199 UK 10K study - Twins NC_000008.10 - 27328511 Oct 12, 2018 (152)
200 A Vietnamese Genetic Variation Database NC_000008.10 - 27328511 Jul 13, 2019 (153)
201 ALFA NC_000008.11 - 27470994 Apr 26, 2021 (155)
202 ClinVar RCV000116713.12 Oct 16, 2022 (156)
203 ClinVar RCV000295942.4 Oct 16, 2022 (156)
204 ClinVar RCV000715431.2 Oct 16, 2022 (156)
205 ClinVar RCV001510319.4 Oct 16, 2022 (156)
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)
rs57302661 May 23, 2008 (130)
rs386567856 Aug 21, 2014 (142)
Added to this RefSNP Cluster:
Submission IDs Observation SPDI Canonical SPDI Source RSIDs
587102, ss77565754, ss84049617, ss112939180, ss115184319, ss115875493, ss162273273, ss164262734, ss198962040, ss279747203, ss294245999, ss410923461, ss480579817, ss491923175, ss825466940, ss1594929123, ss1713026113, ss3639378751, ss3639718303, ss3643683507, ss3847909210 NC_000008.9:27384427:G:A NC_000008.11:27470993:G:A (self)
41255432, 22939120, 16321716, 9239498, 54274, 8784282, 6241621, 816450, 10249143, 24175517, 312857, 8805018, 577382, 152777, 10667186, 21579753, 5753340, 45886692, 22939120, 5114629, ss223619568, ss234377585, ss241246866, ss342255754, ss480594350, ss481418045, ss485085436, ss490962673, ss491411872, ss537094951, ss560641385, ss655076086, ss778870283, ss780868674, ss782988994, ss783553673, ss783949832, ss832245757, ss832904231, ss833495061, ss834331171, ss974467709, ss985336465, ss1067496640, ss1075387648, ss1329153131, ss1582619344, ss1584057813, ss1620264076, ss1663258109, ss1689143664, ss1711197097, ss1752727088, ss1752727089, ss1805461633, ss1917827153, ss1928625256, ss1946233321, ss1959099773, ss1970945058, ss2025015293, ss2153236986, ss2626991269, ss2634729360, ss2634729361, ss2708998927, ss2737071649, ss2748023172, ss2864754654, ss2985435076, ss2986079061, ss3002899229, ss3022832473, ss3348109231, ss3630028364, ss3630028365, ss3632629429, ss3633496166, ss3634222748, ss3635165543, ss3635165544, ss3635901646, ss3636902751, ss3637654799, ss3638751986, ss3640872833, ss3640872834, ss3644966507, ss3646373933, ss3653373747, ss3654197035, ss3670583468, ss3735520153, ss3744578646, ss3745465344, ss3745465345, ss3767793499, ss3772957877, ss3772957878, ss3824358604, ss3825738752, ss3831086000, ss3869562773, ss3916998123, ss3984396121, ss3984603340, ss3985351455, ss3986418623, ss5187917385, ss5315322389, ss5380026530, ss5624176867, ss5624689925, ss5645042910, ss5799752393, ss5830306040, ss5847336642, ss5848171970, ss5848704105, ss5974229799, ss5979858693 NC_000008.10:27328510:G:A NC_000008.11:27470993:G:A (self)
RCV000116713.12, RCV000295942.4, RCV000715431.2, RCV001510319.4, 54090078, 3592990, 19901329, 654735, 63448051, 5770698943, ss1457613777, ss2301784081, ss3026298734, ss3648881682, ss3721677303, ss3726526067, ss3771433266, ss3810954879, ss3963523328, ss4780091088, ss5237041725, ss5237651173, ss5276537967, ss5314422916, ss5473169185, ss5566564143, ss5729610947, ss5809567767, ss5856312961, ss5888264210 NC_000008.11:27470993:G:A NC_000008.11:27470993:G:A (self)
ss14332909, ss17229104, ss19760835, ss22741011 NT_023666.16:5702795:G:A NC_000008.11:27470993:G:A (self)
ss3465405, ss65726943, ss66557409, ss67256445, ss67654878, ss69045360, ss70734798, ss71304800, ss75808017, ss76901603, ss79136422, ss84052250, ss98061232, ss99307550, ss104517831, ss122043434, ss134440240, ss153914690, ss159392490, ss159716719, ss160550946, ss161151708, ss171271519, ss173361760 NT_167187.1:15186656:G:A NC_000008.11:27470993:G:A (self)
24175517, ss3916998123 NC_000008.10:27328510:G:C NC_000008.11:27470993:G:C (self)
24175517, ss2748023172, ss2864754654, ss3916998123 NC_000008.10:27328510:G:T NC_000008.11:27470993:G:T (self)
5770698943, ss4780091089 NC_000008.11:27470993:G:T NC_000008.11:27470993: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.

11 citations for rs2472553
PMID Title Author Year Journal
19307444 Examination of the nicotine dependence (NICSNP) consortium findings in the Iowa adoption studies population. Philibert RA et al. 2009 Nicotine & tobacco research
20736995 Resequencing of nicotinic acetylcholine receptor genes and association of common and rare variants with the Fagerström test for nicotine dependence. Wessel J et al. 2010 Neuropsychopharmacology
21079997 Uncovering hidden variance: pair-wise SNP analysis accounts for additional variance in nicotine dependence. Culverhouse RC et al. 2011 Human genetics
21606948 Varenicline for smoking cessation: nausea severity and variation in nicotinic receptor genes. Swan GE et al. 2012 The pharmacogenomics journal
21625490 Genome-wide association study for atopy and allergic rhinitis in a Singapore Chinese population. Andiappan AK et al. 2011 PloS one
24253422 Significant associations of CHRNA2 and CHRNA6 with nicotine dependence in European American and African American populations. Wang S et al. 2014 Human genetics
24467848 A signal peptide missense mutation associated with nicotine dependence alters α2*-nicotinic acetylcholine receptor function. Dash B et al. 2014 Neuropharmacology
26044620 Gene network analysis shows immune-signaling and ERK1/2 as novel genetic markers for multiple addiction phenotypes: alcohol, smoking and opioid addiction. Reyes-Gibby CC et al. 2015 BMC systems biology
27166759 Converging findings from linkage and association analyses on susceptibility genes for smoking and other addictions. Yang J et al. 2016 Molecular psychiatry
28762314 Insights Into Nicotinic Receptor Signaling in Nicotine Addiction: Implications for Prevention and Treatment. Liu W et al. 2018 Current neuropharmacology
29621993 Cholinergic receptor nicotinic alpha 5 subunit polymorphisms are associated with smoking cessation success in women. Tomaz PRX et al. 2018 BMC medical genetics
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