rs462145

Homo sapiens
A>G
WFDC3 : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
A==0406 (12136/29890,GnomAD)
A==0458 (2296/5008,1000G)
A==0363 (1400/3854,ALSPAC)
A==0373 (1383/3708,TWINSUK)
chr20:45749572 (GRCh38.p7) (20q13.12)
AD
GWASdb2
1   publication(s)
See rs on genome

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 20NC_000020.11:g.45749572A>G
GRCh37.p13 chr 20NC_000020.10:g.44378211A>G

Gene: WFDC3, WAP four-disulfide core domain 3(minus strand)

Molecule type Change Amino acid[Codon] SO Term
WFDC3 transcriptNM_080614.1:c.N/AGenic Downstream Transcript Variant
WFDC3 transcript variant X2XM_017027668.1:c.N/AIntron Variant
WFDC3 transcript variant X1XM_011528553.2:c.N/AGenic Downstream Transcript Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322A=0.500G=0.500
1000GenomesAmericanSub694A=0.300G=0.700
1000GenomesEast AsianSub1008A=0.473G=0.527
1000GenomesEuropeSub1006A=0.387G=0.613
1000GenomesGlobalStudy-wide5008A=0.458G=0.542
1000GenomesSouth AsianSub978A=0.570G=0.430
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854A=0.363G=0.637
The Genome Aggregation DatabaseAfricanSub8704A=0.461G=0.539
The Genome Aggregation DatabaseAmericanSub838A=0.290G=0.710
The Genome Aggregation DatabaseEast AsianSub1612A=0.514G=0.486
The Genome Aggregation DatabaseEuropeSub18434A=0.373G=0.626
The Genome Aggregation DatabaseGlobalStudy-wide29890A=0.406G=0.594
The Genome Aggregation DatabaseOtherSub302A=0.520G=0.480
UK 10K study - TwinsTWIN COHORTStudy-wide3708A=0.373G=0.627
PMID Title Author Journal
21314694Genomewide association analysis of symptoms of alcohol dependence in the molecular genetics of schizophrenia (MGS2) control sample.Kendler KSAlcohol Clin Exp Res

P-Value

SNP ID p-value Traits Study
rs4621450.000896alcohol dependence21314694

eQTL of rs462145 in Brain tissues (GTEx Analysis Release V7)

Position (v37) eGene GeneID Variant p-value TSS Tissue
Chr20:44378211WFDC3ENSG00000124116.14A>G3.1956e-18-42360Cerebellum
Chr20:44378211SNX21ENSG00000124104.14A>G9.8821e-13-84238Cerebellum
Chr20:44378211WFDC3ENSG00000124116.14A>G6.7687e-18-42360Frontal_Cortex_BA9
Chr20:44378211WFDC3ENSG00000124116.14A>G7.2384e-17-42360Hypothalamus
Chr20:44378211WFDC3ENSG00000124116.14A>G2.0973e-22-42360Cortex
Chr20:44378211WFDC3ENSG00000124116.14A>G4.2979e-12-42360Cerebellar_Hemisphere
Chr20:44378211SNX21ENSG00000124104.14A>G1.0439e-10-84238Cerebellar_Hemisphere
Chr20:44378211WFDC3ENSG00000124116.14A>G3.9571e-23-42360Caudate_basal_ganglia
Chr20:44378211WFDC3ENSG00000124116.14A>G1.3786e-6-42360Brain_Spinal_cord_cervical
Chr20:44378211WFDC3ENSG00000124116.14A>G1.5287e-17-42360Hippocampus
Chr20:44378211WFDC3ENSG00000124116.14A>G2.3005e-9-42360Substantia_nigra
Chr20:44378211WFDC3ENSG00000124116.14A>G3.3630e-17-42360Putamen_basal_ganglia
Chr20:44378211WFDC3ENSG00000124116.14A>G1.0744e-18-42360Anterior_cingulate_cortex
Chr20:44378211WFDC3ENSG00000124116.14A>G1.0070e-19-42360Nucleus_accumbens_basal_ganglia
Chr20:44378211WFDC3ENSG00000124116.14A>G3.4559e-10-42360Amygdala

meQTL of rs462145 in Fetal Brain

Probe ID Position Gene beta p-value
cg23252815chr20:44420276DNTTIP1|WFDC3-0.04287125201339148.4400e-13
cg14780681chr20:44420720DNTTIP1|WFDC3-0.005801491457490311.5064e-9

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 )
chr204440665944408661E06728448
chr204440665944408661E06828448
chr204439942344400464E06921212
chr204440665944408661E06928448
chr204439942344400464E07021212
chr204440048744400643E07022276
chr204439942344400464E07121212
chr204440665944408661E07228448
chr204439942344400464E07321212
chr204440048744400643E07322276
chr204440665944408661E07328448
chr204439942344400464E07421212
chr204440665944408661E07428448
chr204441986044419917E07441649
chr204439942344400464E08221212
chr204440288544402976E08224674









Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr204442014844421786E06741937
chr204442014844421786E06841937
chr204442014844421786E06941937
chr204442014844421786E07041937
chr204442014844421786E07141937
chr204442014844421786E07241937
chr204442014844421786E07341937
chr204442014844421786E07441937
chr204442014844421786E08141937
chr204442014844421786E08241937