rs10519567

Homo sapiens
G>A / G>T
GABRB3 : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
A=0149 (4484/29922,GnomAD)
A=0188 (944/5008,1000G)
A=0110 (423/3854,ALSPAC)
A=0091 (339/3708,TWINSUK)
chr15:26738703 (GRCh38.p7) (15q12)
ND
GWASdb2
1   publication(s)
See rs on genome
0 Enhancer around
0 Promoter around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 15NC_000015.10:g.26738703G>A
GRCh38.p7 chr 15NC_000015.10:g.26738703G>T
GRCh37.p13 chr 15NC_000015.9:g.26983850G>A
GRCh37.p13 chr 15NC_000015.9:g.26983850G>T
GABRB3 RefSeqGeneNG_012836.1:g.40078C>T
GABRB3 RefSeqGeneNG_012836.1:g.40078C>A

Gene: GABRB3, gamma-aminobutyric acid type A receptor beta3 subunit(minus strand)

Molecule type Change Amino acid[Codon] SO Term
GABRB3 transcript variant 1NM_000814.5:c.N/AIntron Variant
GABRB3 transcript variant 5NM_001278631.1:c.N/AIntron Variant
GABRB3 transcript variant 2NM_021912.4:c.N/AIntron Variant
GABRB3 transcript variant 3NM_001191320.1:c.N/AGenic Upstream Transcript Variant
GABRB3 transcript variant 4NM_001191321.2:c.N/AGenic Upstream Transcript Variant
GABRB3 transcript variant 6NR_103801.1:n.N/AGenic Upstream Transcript Variant
GABRB3 transcript variant X1XM_011521428.2:c.N/AGenic Upstream Transcript Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322G=0.744A=0.256
1000GenomesAmericanSub694G=0.900A=0.100
1000GenomesEast AsianSub1008G=0.679A=0.321
1000GenomesEuropeSub1006G=0.920A=0.080
1000GenomesGlobalStudy-wide5008G=0.812A=0.188
1000GenomesSouth AsianSub978G=0.860A=0.140
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854G=0.890A=0.110
The Genome Aggregation DatabaseAfricanSub8702G=0.753A=0.247
The Genome Aggregation DatabaseAmericanSub838G=0.880A=0.120
The Genome Aggregation DatabaseEast AsianSub1608G=0.698A=0.302
The Genome Aggregation DatabaseEuropeSub18472G=0.908A=0.091
The Genome Aggregation DatabaseGlobalStudy-wide29922G=0.850A=0.149
The Genome Aggregation DatabaseOtherSub302G=0.780A=0.220
UK 10K study - TwinsTWIN COHORTStudy-wide3708G=0.909A=0.091
PMID Title Author Journal
19268276Genome-wide association study of smoking initiation and current smoking.Vink JMAm J Hum Genet

P-Value

SNP ID p-value Traits Study
rs105195670.000581nicotine smoking19268276

eQTL of rs10519567 in Brain tissues (GTEx Analysis Release V7)

Position (v37) eGene GeneID Variant p-value TSS Tissue
There is no eQTL annotation for this SNP

meQTL of rs10519567 in Fetal Brain

Probe ID Position Gene beta p-value
There is no meQTL annotation for this SNP

Genomic View

Chromatin Interaction

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