rs2532812

Homo sapiens
G>A
PDZD8 : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
A=0066 (1985/29974,GnomAD)
A=0075 (2200/29118,TOPMED)
A=0062 (310/5008,1000G)
A=0052 (201/3854,ALSPAC)
A=0059 (217/3708,TWINSUK)
chr10:117292277 (GRCh38.p7) (10q25.3)
AD
GWASdb2
1   publication(s)
See rs on genome
0 Promoter around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 10NC_000010.11:g.117292277G>A
GRCh37.p13 chr 10NC_000010.10:g.119051788G>A

Gene: PDZD8, PDZ domain containing 8(minus strand)

Molecule type Change Amino acid[Codon] SO Term
PDZD8 transcriptNM_173791.4:c.N/AIntron Variant
PDZD8 transcript variant X1XM_005269518.3:c.N/AIntron Variant
PDZD8 transcript variant X4XM_011539265.1:c.N/AIntron Variant
PDZD8 transcript variant X5XM_011539266.2:c.N/AGenic Downstream Transcript Variant
PDZD8 transcript variant X2XR_945601.1:n.N/AIntron Variant
PDZD8 transcript variant X3XR_945602.1:n.N/AIntron Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322G=0.891A=0.109
1000GenomesAmericanSub694G=0.950A=0.050
1000GenomesEast AsianSub1008G=0.986A=0.014
1000GenomesEuropeSub1006G=0.951A=0.049
1000GenomesGlobalStudy-wide5008G=0.938A=0.062
1000GenomesSouth AsianSub978G=0.930A=0.070
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854G=0.948A=0.052
The Genome Aggregation DatabaseAfricanSub8716G=0.894A=0.106
The Genome Aggregation DatabaseAmericanSub838G=0.970A=0.030
The Genome Aggregation DatabaseEast AsianSub1622G=0.993A=0.007
The Genome Aggregation DatabaseEuropeSub18496G=0.946A=0.053
The Genome Aggregation DatabaseGlobalStudy-wide29974G=0.933A=0.066
The Genome Aggregation DatabaseOtherSub302G=0.890A=0.110
Trans-Omics for Precision MedicineGlobalStudy-wide29118G=0.924A=0.075
UK 10K study - TwinsTWIN COHORTStudy-wide3708G=0.941A=0.059
PMID Title Author Journal
21703634A meta-analysis of two genome-wide association studies identifies 3 new loci for alcohol dependence.Wang KSJ Psychiatr Res

P-Value

SNP ID p-value Traits Study
rs25328123.63E-05alcohol dependence21703634

eQTL of rs2532812 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 rs2532812 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 )
chr10119042579119042633E067-9155
chr10119042733119042823E067-8965
chr10119081834119081905E06730046
chr10119081928119082035E06730140
chr10119042733119042823E068-8965
chr10119043292119043373E068-8415
chr10119043503119043754E068-8034
chr10119043775119043825E068-7963
chr10119043292119043373E069-8415
chr10119081834119081905E06930046
chr10119005189119005279E070-46509
chr10119005287119005380E070-46408
chr10119005909119005959E070-45829
chr10119011871119012094E070-39694
chr10119012470119012529E070-39259
chr10119012624119012688E070-39100
chr10119012891119012962E070-38826
chr10119018524119018574E070-33214
chr10119018588119018687E070-33101
chr10119018787119019100E070-32688
chr10119019157119019269E070-32519
chr10119042579119042633E070-9155
chr10119042733119042823E070-8965
chr10119051371119051411E070-377
chr10119051475119051626E070-162
chr10119042733119042823E071-8965
chr10119043292119043373E071-8415
chr10119081623119081673E07129835
chr10119081720119081790E07129932
chr10119081834119081905E07130046
chr10119081928119082035E07130140
chr10119042579119042633E072-9155
chr10119042733119042823E072-8965
chr10119043292119043373E072-8415
chr10119081834119081905E07230046
chr10119081834119081905E07330046
chr10119081928119082035E07330140
chr10119042579119042633E074-9155
chr10119042733119042823E074-8965
chr10119043292119043373E074-8415