rs12550040

Homo sapiens
G>A / G>T
None
Check p-value
SNV (Single Nucleotide Variation)
T=0147 (4420/29940,GnomAD)
T=0116 (582/5008,1000G)
T=0195 (751/3854,ALSPAC)
T=0198 (734/3708,TWINSUK)
chr8:41109645 (GRCh38.p7) (8p11.21)
AD
GWASdb2
1   publication(s)
See rs on genome
0 Enhancer around
0 Promoter around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 8NC_000008.11:g.41109645G>A
GRCh38.p7 chr 8NC_000008.11:g.41109645G>T
GRCh37.p13 chr 8NC_000008.10:g.40967164G>A
GRCh37.p13 chr 8NC_000008.10:g.40967164G>T

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322G=0.920T=0.080
1000GenomesAmericanSub694G=0.820T=0.180
1000GenomesEast AsianSub1008G=0.953T=0.047
1000GenomesEuropeSub1006G=0.811T=0.189
1000GenomesGlobalStudy-wide5008G=0.884T=0.116
1000GenomesSouth AsianSub978G=0.880T=0.120
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854G=0.805T=0.195
The Genome Aggregation DatabaseAfricanSub8714G=0.904T=0.096
The Genome Aggregation DatabaseAmericanSub834G=0.840T=0.16,
The Genome Aggregation DatabaseEast AsianSub1620G=0.957T=0.043
The Genome Aggregation DatabaseEuropeSub18470G=0.819T=0.180
The Genome Aggregation DatabaseGlobalStudy-wide29940G=0.852T=0.147
The Genome Aggregation DatabaseOtherSub302G=0.840T=0.16,
UK 10K study - TwinsTWIN COHORTStudy-wide3708G=0.802T=0.198
PMID Title Author Journal
21703634A meta-analysis of two genome-wide association studies identifies 3 new loci for alcohol dependence.Wang KSJ Psychiatr Res

P-Value

SNP ID p-value Traits Study
rs125500404.18E-05alcohol dependence21703634

eQTL of rs12550040 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 rs12550040 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.