rs17115444

Homo sapiens
T>C
None
Check p-value
SNV (Single Nucleotide Variation)
C=0074 (2235/29948,GnomAD)
C=0101 (2945/29118,TOPMED)
C=0086 (430/5008,1000G)
C=0045 (175/3854,ALSPAC)
C=0045 (168/3708,TWINSUK)
chr14:44719763 (GRCh38.p7) (14q21.2)
AD
GWASdb2
1   publication(s)
See rs on genome
0 Enhancer around
0 Promoter around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 14NC_000014.9:g.44719763T>C
GRCh37.p13 chr 14NC_000014.8:g.45188966T>C

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322T=0.803C=0.197
1000GenomesAmericanSub694T=0.960C=0.040
1000GenomesEast AsianSub1008T=0.989C=0.011
1000GenomesEuropeSub1006T=0.944C=0.056
1000GenomesGlobalStudy-wide5008T=0.914C=0.086
1000GenomesSouth AsianSub978T=0.920C=0.080
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854T=0.955C=0.045
The Genome Aggregation DatabaseAfricanSub8722T=0.835C=0.165
The Genome Aggregation DatabaseAmericanSub836T=0.950C=0.050
The Genome Aggregation DatabaseEast AsianSub1618T=0.990C=0.010
The Genome Aggregation DatabaseEuropeSub18472T=0.960C=0.039
The Genome Aggregation DatabaseGlobalStudy-wide29948T=0.925C=0.074
The Genome Aggregation DatabaseOtherSub300T=0.940C=0.060
Trans-Omics for Precision MedicineGlobalStudy-wide29118T=0.898C=0.101
UK 10K study - TwinsTWIN COHORTStudy-wide3708T=0.955C=0.045
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
rs171154440.00027alcohol dependence(early age of onset)20201924
rs171154440.00093alcohol dependence20201924

eQTL of rs17115444 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 rs17115444 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.