rs55730008

Homo sapiens
T>C
None
Check p-value
SNV (Single Nucleotide Variation)
C=0090 (2718/29978,GnomAD)
C=0096 (2806/29118,TOPMED)
C=0125 (626/5008,1000G)
C=0108 (417/3854,ALSPAC)
C=0121 (447/3708,TWINSUK)
chr14:80096744 (GRCh38.p7) (14q31.1)
AD
GWASCatalog
1   publication(s)
See rs on genome
15 Enhancers around
21 Promoters around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 14NC_000014.9:g.80096744T>C
GRCh37.p13 chr 14NC_000014.8:g.80563087T>C

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322T=0.949C=0.051
1000GenomesAmericanSub694T=0.900C=0.100
1000GenomesEast AsianSub1008T=0.803C=0.197
1000GenomesEuropeSub1006T=0.870C=0.130
1000GenomesGlobalStudy-wide5008T=0.875C=0.125
1000GenomesSouth AsianSub978T=0.840C=0.160
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854T=0.892C=0.108
The Genome Aggregation DatabaseAfricanSub8726T=0.950C=0.050
The Genome Aggregation DatabaseAmericanSub838T=0.910C=0.090
The Genome Aggregation DatabaseEast AsianSub1616T=0.834C=0.166
The Genome Aggregation DatabaseEuropeSub18496T=0.897C=0.102
The Genome Aggregation DatabaseGlobalStudy-wide29978T=0.909C=0.090
The Genome Aggregation DatabaseOtherSub302T=0.880C=0.120
Trans-Omics for Precision MedicineGlobalStudy-wide29118T=0.903C=0.096
UK 10K study - TwinsTWIN COHORTStudy-wide3708T=0.879C=0.121
PMID Title Author Journal
29460428Genomewide Association Study of Alcohol Dependence and Related Traits in a Thai Population.Gelernter JAlcohol Clin Exp Res

P-Value

SNP ID p-value Traits Study
rs557300081E-06alcohol dependence29460428

eQTL of rs55730008 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 rs55730008 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 )
chr148054490880545146E067-17941
chr148054490880545146E068-17941
chr148052172880521845E069-41242
chr148054490880545146E069-17941
chr148054490880545146E070-17941
chr148054527880545328E070-17759
chr148054583180545905E070-17182
chr148054705380547289E070-15798
chr148054798280548036E070-15051
chr148054490880545146E071-17941
chr148054527880545328E071-17759
chr148052172880521845E072-41242
chr148054490880545146E072-17941
chr148054490880545146E073-17941
chr148052172880521845E074-41242








Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr148052214380522222E067-40865
chr148052226980522319E067-40768
chr148052233380522522E067-40565
chr148052252980522985E067-40102
chr148052214380522222E068-40865
chr148052226980522319E068-40768
chr148052233380522522E068-40565
chr148052252980522985E068-40102
chr148052233380522522E069-40565
chr148052252980522985E069-40102
chr148052214380522222E071-40865
chr148052226980522319E071-40768
chr148052233380522522E071-40565
chr148052252980522985E071-40102
chr148052214380522222E072-40865
chr148052226980522319E072-40768
chr148052233380522522E072-40565
chr148052214380522222E073-40865
chr148052226980522319E073-40768
chr148052233380522522E073-40565
chr148052252980522985E073-40102