rs17144687

Homo sapiens
A>C
None
Check p-value
SNV (Single Nucleotide Variation)
C=0046 (1395/29950,GnomAD)
C=0050 (1474/29118,TOPMED)
C=0040 (200/5008,1000G)
C=0027 (104/3854,ALSPAC)
C=0024 (90/3708,TWINSUK)
chr5:118824240 (GRCh38.p7) (5q23.1)
AD
GWASdb2
1   publication(s)
See rs on genome
15 Enhancers around
0 Promoter around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 5NC_000005.10:g.118824240A>C
GRCh37.p13 chr 5NC_000005.9:g.118159935A>C

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322A=0.920C=0.080
1000GenomesAmericanSub694A=0.970C=0.030
1000GenomesEast AsianSub1008A=0.980C=0.020
1000GenomesEuropeSub1006A=0.969C=0.031
1000GenomesGlobalStudy-wide5008A=0.960C=0.040
1000GenomesSouth AsianSub978A=0.980C=0.020
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854A=0.973C=0.027
The Genome Aggregation DatabaseAfricanSub8720A=0.935C=0.065
The Genome Aggregation DatabaseAmericanSub838A=0.930C=0.070
The Genome Aggregation DatabaseEast AsianSub1606A=0.967C=0.033
The Genome Aggregation DatabaseEuropeSub18484A=0.961C=0.038
The Genome Aggregation DatabaseGlobalStudy-wide29950A=0.953C=0.046
The Genome Aggregation DatabaseOtherSub302A=0.990C=0.010
Trans-Omics for Precision MedicineGlobalStudy-wide29118A=0.949C=0.050
UK 10K study - TwinsTWIN COHORTStudy-wide3708A=0.976C=0.024
PMID Title Author Journal
23953852Genome-wide association studies of maximum number of drinks.Pan YJ Psychiatr Res

P-Value

SNP ID p-value Traits Study
rs171446879.27E-08alcohol consumption23953852

eQTL of rs17144687 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 rs17144687 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 )
chr5118127228118127329E067-32606
chr5118127406118128249E067-31686
chr5118127228118127329E068-32606
chr5118127228118127329E069-32606
chr5118127406118128249E069-31686
chr5118127228118127329E070-32606
chr5118129696118129752E070-30183
chr5118127228118127329E071-32606
chr5118121555118121648E072-38287
chr5118127228118127329E072-32606
chr5118127228118127329E073-32606
chr5118127406118128249E073-31686
chr5118127228118127329E074-32606
chr5118127406118128249E074-31686
chr5118127228118127329E081-32606