rs3917449

Homo sapiens
G>A
None
Check p-value
SNV (Single Nucleotide Variation)
A=0298 (8907/29882,GnomAD)
A=0306 (8930/29118,TOPMED)
A=0383 (1918/5008,1000G)
A=0242 (933/3854,ALSPAC)
A=0229 (848/3708,TWINSUK)
chr1:169722078 (GRCh38.p7) (1q24.2)
AD
GWASdb2
1   publication(s)
See rs on genome
3 Enhancers around
7 Promoters around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 1NC_000001.11:g.169722078G>A
GRCh37.p13 chr 1NC_000001.10:g.169691219G>A
SELE RefSeqGeneNG_012124.1:g.17002C>T

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322G=0.629A=0.371
1000GenomesAmericanSub694G=0.620A=0.380
1000GenomesEast AsianSub1008G=0.498A=0.502
1000GenomesEuropeSub1006G=0.717A=0.283
1000GenomesGlobalStudy-wide5008G=0.617A=0.383
1000GenomesSouth AsianSub978G=0.620A=0.380
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854G=0.758A=0.242
The Genome Aggregation DatabaseAfricanSub8680G=0.656A=0.344
The Genome Aggregation DatabaseAmericanSub838G=0.570A=0.430
The Genome Aggregation DatabaseEast AsianSub1606G=0.548A=0.452
The Genome Aggregation DatabaseEuropeSub18458G=0.742A=0.257
The Genome Aggregation DatabaseGlobalStudy-wide29882G=0.701A=0.298
The Genome Aggregation DatabaseOtherSub300G=0.690A=0.310
Trans-Omics for Precision MedicineGlobalStudy-wide29118G=0.693A=0.306
UK 10K study - TwinsTWIN COHORTStudy-wide3708G=0.771A=0.229
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
rs39174490.0000535alcoholismpha002891
rs39174490.0000535alcohol dependence20201924

eQTL of rs3917449 in Brain tissues (GTEx Analysis Release V7)

Position (v37) eGene GeneID Variant p-value TSS Tissue
Chr1:169691219RN7SL333PENSG00000239494.2G>A3.6310e-3-137678Cerebellar_Hemisphere

meQTL of rs3917449 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 )
chr1169663053169664067E071-27152
chr1169664116169664389E071-26830
chr1169661474169662757E074-28462


Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr1169680599169681493E067-9726
chr1169680599169681493E068-9726
chr1169680599169681493E069-9726
chr1169680599169681493E071-9726
chr1169680599169681493E072-9726
chr1169680599169681493E073-9726
chr1169680599169681493E074-9726