rs17049541

Homo sapiens
G>A
None
Check p-value
SNV (Single Nucleotide Variation)
A=0032 (969/29942,GnomAD)
A=0049 (1443/29118,TOPMED)
A=0062 (309/5008,1000G)
A=0000 (1/3854,ALSPAC)
A=0000 (1/3708,TWINSUK)
chr3:8778715 (GRCh38.p7) (3p25.3)
AD
GWASdb2
1   publication(s)
See rs on genome
23 Enhancers around
12 Promoters around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 3NC_000003.12:g.8778715G>A
GRCh37.p13 chr 3NC_000003.11:g.8820401G>A
CAV3 RefSeqGene LRG_329

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322G=0.846A=0.154
1000GenomesAmericanSub694G=0.990A=0.010
1000GenomesEast AsianSub1008G=0.998A=0.002
1000GenomesEuropeSub1006G=1.000A=0.000
1000GenomesGlobalStudy-wide5008G=0.938A=0.062
1000GenomesSouth AsianSub978G=0.900A=0.100
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854G=1.000A=0.000
The Genome Aggregation DatabaseAfricanSub8696G=0.890A=0.110
The Genome Aggregation DatabaseAmericanSub838G=0.990A=0.010
The Genome Aggregation DatabaseEast AsianSub1620G=0.996A=0.004
The Genome Aggregation DatabaseEuropeSub18486G=0.999A=0.000
The Genome Aggregation DatabaseGlobalStudy-wide29942G=0.967A=0.032
The Genome Aggregation DatabaseOtherSub302G=1.000A=0.000
Trans-Omics for Precision MedicineGlobalStudy-wide29118G=0.950A=0.049
UK 10K study - TwinsTWIN COHORTStudy-wide3708G=1.000A=0.000
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
rs170495410.000915alcohol dependence20201924

eQTL of rs17049541 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 rs17049541 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 )
chr388266108826714E0686209
chr388268618826972E0686460
chr388119638812115E069-8286
chr387753368775540E070-44861
chr387995208799611E070-20790
chr387997458800217E070-20184
chr388157618815811E070-4590
chr388158658816136E070-4265
chr388161748816335E070-4066
chr388169198816969E070-3432
chr388170508817170E070-3231
chr388266108826714E0706209
chr388268618826972E0706460
chr388119638812115E071-8286
chr388266108826714E0716209
chr388268618826972E0716460
chr388169198816969E074-3432
chr388210358821115E074634
chr388266108826714E0746209
chr388268618826972E0746460
chr388119638812115E081-8286
chr388266108826714E0826209
chr388268618826972E0826460







Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr388100218810319E067-10082
chr388103268811769E067-8632
chr388091238809979E068-10422
chr388100218810319E068-10082
chr388103268811769E068-8632
chr388100218810319E070-10082
chr388100218810319E072-10082
chr388103268811769E073-8632
chr388100218810319E074-10082
chr388103268811769E074-8632
chr388100218810319E082-10082
chr388103268811769E082-8632