rs363294

Homo sapiens
C>T
PDZD8 : Missense Variant
Check p-value
SNV (Single Nucleotide Variation)
T=0049 (6023/121176,ExAC)
T=0037 (1135/29976,GnomAD)
T=0031 (913/29118,TOPMED)
C==0041 (534/13006,GO-ESP)
T=0033 (163/5008,1000G)
T=0052 (200/3854,ALSPAC)
T=0058 (216/3708,TWINSUK)
chr10:117284043 (GRCh38.p7) (10q25.3)
AD
GWASdb2
3   publication(s)
See rs on genome
40 Enhancers around
3 Promoters around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 10NC_000010.11:g.117284043C>T
GRCh37.p13 chr 10NC_000010.10:g.119043554C>T

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

Molecule type Change Amino acid[Codon] SO Term
PDZD8 transcriptNM_173791.4:c.269...NM_173791.4:c.2690G>AR [CGA]> Q [CAA]Coding Sequence Variant
PDZ domain-containing protein 8NP_776152.1:p.Arg...NP_776152.1:p.Arg897GlnR [Arg]> Q [Gln]Missense Variant
PDZD8 transcript variant X4XM_011539265.1:c.N/AGenic Downstream Transcript Variant
PDZD8 transcript variant X5XM_011539266.2:c.N/AGenic Downstream Transcript Variant
PDZD8 transcript variant X1XM_005269518.3:c....XM_005269518.3:c.2567G>AR [CGA]> Q [CAA]Coding Sequence Variant
PDZ domain-containing protein 8 isoform X1XP_005269575.1:p....XP_005269575.1:p.Arg856GlnR [Arg]> Q [Gln]Missense Variant
PDZD8 transcript variant X2XR_945601.1:n.N/AGenic Downstream Transcript Variant
PDZD8 transcript variant X3XR_945602.1:n.N/AGenic Downstream Transcript Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322C=0.997T=0.003
1000GenomesAmericanSub694C=0.960T=0.040
1000GenomesEast AsianSub1008C=0.986T=0.014
1000GenomesEuropeSub1006C=0.951T=0.049
1000GenomesGlobalStudy-wide5008C=0.967T=0.033
1000GenomesSouth AsianSub978C=0.930T=0.070
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854C=0.948T=0.052
The Exome Aggregation ConsortiumAmericanSub21970C=0.983T=0.016
The Exome Aggregation ConsortiumAsianSub25084C=0.942T=0.057
The Exome Aggregation ConsortiumEuropeSub73220C=0.943T=0.056
The Exome Aggregation ConsortiumGlobalStudy-wide121176C=0.950T=0.049
The Exome Aggregation ConsortiumOtherSub902C=0.960T=0.040
The Genome Aggregation DatabaseAfricanSub8726C=0.990T=0.010
The Genome Aggregation DatabaseAmericanSub838C=0.970T=0.030
The Genome Aggregation DatabaseEast AsianSub1622C=0.993T=0.007
The Genome Aggregation DatabaseEuropeSub18488C=0.947T=0.053
The Genome Aggregation DatabaseGlobalStudy-wide29976C=0.962T=0.037
The Genome Aggregation DatabaseOtherSub302C=0.890T=0.110
Trans-Omics for Precision MedicineGlobalStudy-wide29118C=0.968T=0.031
UK 10K study - TwinsTWIN COHORTStudy-wide3708C=0.942T=0.058
PMID Title Author Journal
21703634A meta-analysis of two genome-wide association studies identifies 3 new loci for alcohol dependence.Wang KSJ Psychiatr Res
16385451A scan of chromosome 10 identifies a novel locus showing strong association with late-onset Alzheimer disease.Grupe AAm J Hum Genet
20468064Association study of 182 candidate genes in anorexia nervosa.Pinheiro APAm J Med Genet B Neuropsychiatr Genet

P-Value

SNP ID p-value Traits Study
rs3632945.56E-05alcohol dependence21703634

eQTL of rs363294 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 rs363294 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 )
chr10119042579119042633E067-921
chr10119042733119042823E067-731
chr10119081834119081905E06738280
chr10119081928119082035E06738374
chr10119042733119042823E068-731
chr10119043292119043373E068-181
chr10119043503119043754E0680
chr10119043775119043825E068221
chr10119043292119043373E069-181
chr10119081834119081905E06938280
chr10119005189119005279E070-38275
chr10119005287119005380E070-38174
chr10119005909119005959E070-37595
chr10119011871119012094E070-31460
chr10119012470119012529E070-31025
chr10119012624119012688E070-30866
chr10119012891119012962E070-30592
chr10119018524119018574E070-24980
chr10119018588119018687E070-24867
chr10119018787119019100E070-24454
chr10119019157119019269E070-24285
chr10119042579119042633E070-921
chr10119042733119042823E070-731
chr10119051371119051411E0707817
chr10119051475119051626E0707921
chr10119042733119042823E071-731
chr10119043292119043373E071-181
chr10119081623119081673E07138069
chr10119081720119081790E07138166
chr10119081834119081905E07138280
chr10119081928119082035E07138374
chr10119042579119042633E072-921
chr10119042733119042823E072-731
chr10119043292119043373E072-181
chr10119081834119081905E07238280
chr10119081834119081905E07338280
chr10119081928119082035E07338374
chr10119042579119042633E074-921
chr10119042733119042823E074-731
chr10119043292119043373E074-181








Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr10119000011119001773E070-41781
chr10119000011119001773E072-41781
chr10119000011119001773E082-41781