rs16969968

Homo sapiens
G>A
CHRNA5 : Missense Variant
Check p-value
SNV (Single Nucleotide Variation)
A=0267 (32400/121044,ExAC)
A=0235 (7055/29960,GnomAD)
A=0211 (6168/29118,TOPMED)
A=0150 (749/5008,1000G)
A=0323 (1246/3854,ALSPAC)
A=0326 (1210/3708,TWINSUK)
chr15:78590583 (GRCh38.p7) (15q25.1)
ND
GWASdb2
See rs on genome

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 15NC_000015.10:g.78590583G>A
GRCh37.p13 chr 15NC_000015.9:g.78882925G>A
CHRNA5 RefSeqGeneNG_023328.1:g.30064G>A

Gene: CHRNA5, cholinergic receptor nicotinic alpha 5 subunit(plus strand)

Molecule type Change Amino acid[Codon] SO Term
CHRNA5 transcript variant 2NM_001307945.1:c.N/AIntron Variant
CHRNA5 transcript variant 1NM_000745.3:c.119...NM_000745.3:c.1192G>AD [GAT]> N [AAT]Coding Sequence Variant
neuronal acetylcholine receptor subunit alpha-5 isoform 1 precursorNP_000736.2:p.Asp...NP_000736.2:p.Asp398AsnD [Asp]> N [Asn]Missense Variant
CHRNA5 transcript variant X3XM_005254142.3:c.N/AIntron Variant
CHRNA5 transcript variant X2XM_017021881.1:c.N/AIntron Variant
CHRNA5 transcript variant X1XR_001751067.1:n....XR_001751067.1:n.1391G>AG>ANon Coding Transcript Variant

Genomic View

Chromatin Interaction

There is no significant Hi-C chromatin interaction data for this SNP.

Enhancer Annotation (GRCh37.p13)

Chromosome Start End Region Distance ( -/+ : Up/Downstream )
chr157883465278834702E067-48223
chr157883465278834702E069-48223
chr157883485878834908E069-48017
chr157883506878835124E069-47801
chr157883512578835267E069-47658
chr157883541478835508E069-47417
chr157883557978835628E069-47297
chr157883465278834702E070-48223
chr157885686878857013E072-25912
chr157883465278834702E073-48223
chr157883465278834702E081-48223
chr157883485878834908E081-48017
chr157892992678929999E08147001
chr157893003378930244E08147108
chr157883465278834702E082-48223
chr157883485878834908E082-48017
chr157886578678866130E082-16795
chr157891955378919674E08236628
chr157891979978919961E08236874
chr157893003378930244E08247108







Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr157885705278859300E067-23625
chr157891174978913845E06828824
chr157885705278859300E069-23625
chr157885705278859300E070-23625
chr157885705278859300E072-23625
chr157885705278859300E073-23625
chr157885705278859300E074-23625
chr157885705278859300E081-23625
chr157885705278859300E082-23625
chr157891174978913845E08228824
chr157893271878932860E08249793









Mpgyi