rs237240

Homo sapiens
C>T
HIP1 : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
T=0093 (7840/84316,ExAC)
T=0081 (2436/29964,GnomAD)
T=0085 (2475/29118,TOPMED)
C==0082 (1069/13006,GO-ESP)
T=0099 (495/5008,1000G)
T=0064 (245/3854,ALSPAC)
T=0076 (281/3708,TWINSUK)
chr7:75581343 (GRCh38.p7) (7q11.23)
AD
GWASdb2
1   publication(s)
See rs on genome
13 Enhancers around
0 Promoter around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 7NC_000007.14:g.75581343C>T
GRCh37.p13 chr 7 fix patch HG1257_PATCHNW_003871064.1:g.3110579C>T
HIP1 RefSeqGeneNG_023251.2:g.162619G>A
GRCh37.p13 chr 7NC_000007.13:g.75210659C>T

Gene: HIP1, huntingtin interacting protein 1(minus strand)

Molecule type Change Amino acid[Codon] SO Term
HIP1 transcript variant 2NM_001243198.2:c.N/AIntron Variant
HIP1 transcript variant 1NM_005338.6:c.N/AIntron Variant
HIP1 transcript variant X3XM_005250304.2:c.N/AIntron Variant
HIP1 transcript variant X4XM_005250305.2:c.N/AIntron Variant
HIP1 transcript variant X1XM_011516116.2:c.N/AIntron Variant
HIP1 transcript variant X2XM_017012099.1:c.N/AIntron Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322C=0.886T=0.114
1000GenomesAmericanSub694C=0.920T=0.080
1000GenomesEast AsianSub1008C=0.927T=0.073
1000GenomesEuropeSub1006C=0.920T=0.080
1000GenomesGlobalStudy-wide5008C=0.901T=0.099
1000GenomesSouth AsianSub978C=0.860T=0.140
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854C=0.936T=0.064
The Exome Aggregation ConsortiumAmericanSub14814C=0.905T=0.094
The Exome Aggregation ConsortiumAsianSub19294C=0.872T=0.127
The Exome Aggregation ConsortiumEuropeSub49584C=0.921T=0.078
The Exome Aggregation ConsortiumGlobalStudy-wide84316C=0.907T=0.093
The Exome Aggregation ConsortiumOtherSub624C=0.880T=0.120
The Genome Aggregation DatabaseAfricanSub8720C=0.889T=0.111
The Genome Aggregation DatabaseAmericanSub838C=0.950T=0.050
The Genome Aggregation DatabaseEast AsianSub1616C=0.931T=0.069
The Genome Aggregation DatabaseEuropeSub18488C=0.929T=0.070
The Genome Aggregation DatabaseGlobalStudy-wide29964C=0.918T=0.081
The Genome Aggregation DatabaseOtherSub302C=0.970T=0.030
Trans-Omics for Precision MedicineGlobalStudy-wide29118C=0.915T=0.085
UK 10K study - TwinsTWIN COHORTStudy-wide3708C=0.924T=0.076
PMID Title Author Journal
21529783A quantitative-trait genome-wide association study of alcoholism risk in the community: findings and implications.Heath ACBiol Psychiatry

P-Value

SNP ID p-value Traits Study
rs2372402.9E-05alcoholism (heaviness of drinking)21529783

eQTL of rs237240 in Brain tissues (GTEx Analysis Release V7)

Position (v37) eGene GeneID Variant p-value TSS Tissue
Chr7:75210659NCF1CENSG00000165178.8C>T2.0550e-3622811Caudate_basal_ganglia

meQTL of rs237240 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 )
chr730676533068113E070-42466
chr730682373068513E070-42066
chr730781153078261E070-32318
chr730783213078439E070-32140
chr730785143078598E070-31981
chr730666633066946E081-43633
chr730670093067401E081-43178
chr730682373068513E081-42066
chr730686123068761E081-41818
chr730689423069047E081-41532
chr730935313093598E081-16981
chr731230463123217E08112467
chr731237463123816E08113167