rs2052383

Homo sapiens
G>A / G>T
None
Check p-value
SNV (Single Nucleotide Variation)
G==0300 (8989/29888,GnomAD)
G==0360 (1805/5008,1000G)
G==0198 (762/3854,ALSPAC)
G==0183 (677/3708,TWINSUK)
chr13:105547179 (GRCh38.p7) (13q33.2)
ND
GWASdb2
1   publication(s)
See rs on genome
0 Enhancer around
0 Promoter around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 13NC_000013.11:g.105547179G>A
GRCh38.p7 chr 13NC_000013.11:g.105547179G>T
GRCh37.p13 chr 13NC_000013.10:g.106199528G>A
GRCh37.p13 chr 13NC_000013.10:g.106199528G>T

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322G=0.599T=0.401
1000GenomesAmericanSub694G=0.140T=0.860
1000GenomesEast AsianSub1008G=0.409T=0.591
1000GenomesEuropeSub1006G=0.198T=0.802
1000GenomesGlobalStudy-wide5008G=0.360T=0.640
1000GenomesSouth AsianSub978G=0.310T=0.690
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854G=0.198T=0.802
The Genome Aggregation DatabaseAfricanSub8682G=0.534T=0.466
The Genome Aggregation DatabaseAmericanSub838G=0.100T=0.90,
The Genome Aggregation DatabaseEast AsianSub1606G=0.386T=0.614
The Genome Aggregation DatabaseEuropeSub18460G=0.194T=0.805
The Genome Aggregation DatabaseGlobalStudy-wide29888G=0.300T=0.699
The Genome Aggregation DatabaseOtherSub302G=0.190T=0.81,
UK 10K study - TwinsTWIN COHORTStudy-wide3708G=0.183T=0.817
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
rs20523833.85E-05nicotine smoking19268276

eQTL of rs2052383 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 rs2052383 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.