rs1572840

Homo sapiens
G>A
GP5 : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
A=0159 (4764/29964,GnomAD)
A=0175 (5098/29118,TOPMED)
A=0141 (705/5008,1000G)
A=0143 (552/3854,ALSPAC)
A=0142 (527/3708,TWINSUK)
chr3:194398854 (GRCh38.p7) (3q29)
AD
GWASdb2
1   publication(s)
See rs on genome
32 Enhancers around
9 Promoters around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 3NC_000003.12:g.194398854G>A
GRCh37.p13 chr 3NC_000003.11:g.194119583G>A

Gene: GP5, glycoprotein V platelet(minus strand)

Molecule type Change Amino acid[Codon] SO Term
GP5 transcriptNM_004488.2:c.N/AIntron Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322G=0.773A=0.227
1000GenomesAmericanSub694G=0.900A=0.100
1000GenomesEast AsianSub1008G=0.946A=0.054
1000GenomesEuropeSub1006G=0.862A=0.138
1000GenomesGlobalStudy-wide5008G=0.859A=0.141
1000GenomesSouth AsianSub978G=0.850A=0.150
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854G=0.857A=0.143
The Genome Aggregation DatabaseAfricanSub8710G=0.790A=0.210
The Genome Aggregation DatabaseAmericanSub838G=0.880A=0.120
The Genome Aggregation DatabaseEast AsianSub1622G=0.948A=0.052
The Genome Aggregation DatabaseEuropeSub18492G=0.854A=0.145
The Genome Aggregation DatabaseGlobalStudy-wide29964G=0.841A=0.159
The Genome Aggregation DatabaseOtherSub302G=0.800A=0.200
Trans-Omics for Precision MedicineGlobalStudy-wide29118G=0.824A=0.175
UK 10K study - TwinsTWIN COHORTStudy-wide3708G=0.858A=0.142
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
rs15728400.00046alcohol dependence20201924

eQTL of rs1572840 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 rs1572840 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 )
chr3194085187194085286E068-34297
chr3194122718194122780E0683135
chr3194085314194086193E069-33390
chr3194090878194091015E069-28568
chr3194091609194091706E069-27877
chr3194085187194085286E070-34297
chr3194085314194086193E070-33390
chr3194096190194096576E070-23007
chr3194096752194096986E070-22597
chr3194100521194100582E070-19001
chr3194100641194100691E070-18892
chr3194100741194100821E070-18762
chr3194101191194101265E070-18318
chr3194102405194102531E070-17052
chr3194102549194102657E070-16926
chr3194115895194116399E070-3184
chr3194085187194085286E071-34297
chr3194085314194086193E071-33390
chr3194085187194085286E072-34297
chr3194085314194086193E072-33390
chr3194122887194122941E0723304
chr3194085314194086193E073-33390
chr3194085314194086193E074-33390
chr3194085314194086193E081-33390
chr3194100521194100582E081-19001
chr3194100641194100691E081-18892
chr3194100741194100821E081-18762
chr3194101191194101265E081-18318
chr3194115895194116399E081-3184
chr3194116678194117581E081-2002
chr3194115895194116399E082-3184
chr3194116678194117581E082-2002









Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr3194119074194119185E067-398
chr3194117611194119047E068-536
chr3194119074194119185E068-398
chr3194119074194119185E069-398
chr3194117611194119047E071-536
chr3194119074194119185E072-398
chr3194119074194119185E073-398
chr3194119074194119185E081-398
chr3194119074194119185E082-398