rs12730805

Homo sapiens
C>A
None
Check p-value
SNV (Single Nucleotide Variation)
A=0107 (3213/29950,GnomAD)
A=0108 (3144/29118,TOPMED)
A=0058 (288/5008,1000G)
A=0167 (644/3854,ALSPAC)
A=0176 (651/3708,TWINSUK)
chr1:162903430 (GRCh38.p7) (1q23.3)
AD
GWASdb2
1   publication(s)
See rs on genome
5 Enhancers around
0 Promoter around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 1NC_000001.11:g.162903430C>A
GRCh37.p13 chr 1NC_000001.10:g.162873220C>A

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322C=0.994A=0.006
1000GenomesAmericanSub694C=0.890A=0.110
1000GenomesEast AsianSub1008C=0.995A=0.005
1000GenomesEuropeSub1006C=0.840A=0.160
1000GenomesGlobalStudy-wide5008C=0.942A=0.058
1000GenomesSouth AsianSub978C=0.960A=0.040
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854C=0.833A=0.167
The Genome Aggregation DatabaseAfricanSub8732C=0.973A=0.027
The Genome Aggregation DatabaseAmericanSub838C=0.900A=0.100
The Genome Aggregation DatabaseEast AsianSub1616C=0.998A=0.002
The Genome Aggregation DatabaseEuropeSub18462C=0.846A=0.153
The Genome Aggregation DatabaseGlobalStudy-wide29950C=0.892A=0.107
The Genome Aggregation DatabaseOtherSub302C=0.830A=0.170
Trans-Omics for Precision MedicineGlobalStudy-wide29118C=0.892A=0.108
UK 10K study - TwinsTWIN COHORTStudy-wide3708C=0.824A=0.176
PMID Title Author Journal
20201924Genome-wide association study of alcohol dependence implicates a region on chromosome 11.Edenberg HJAlcohol Clin Exp Res

P-Value

SNP ID p-value Traits Study
rs127308050.00079alcohol dependence20201924

eQTL of rs12730805 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 rs12730805 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.

Enhancer Annotation (GRCh37.p13)

Chromosome Start End Region Distance ( -/+ : Up/Downstream )
chr1162831509162831700E068-41520
chr1162832172162832351E068-40869
chr1162832172162832351E071-40869
chr1162851953162852520E073-20700
chr1162874465162874773E0731245