rs3816831

Homo sapiens
G>A
PDZRN3 : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
A=0141 (17093/121178,ExAC)
A=0129 (3884/29948,GnomAD)
A=0103 (3018/29118,TOPMED)
G==0123 (1603/13006,GO-ESP)
A=0113 (567/5008,1000G)
A=0162 (624/3854,ALSPAC)
A=0165 (612/3708,TWINSUK)
chr3:73401047 (GRCh38.p7) (3p13)
AD
GWASdb2
1   publication(s)
See rs on genome
79 Enhancers around
4 Promoters around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 3NC_000003.12:g.73401047G>A
GRCh37.p13 chr 3NC_000003.11:g.73450198G>A

Gene: PDZRN3, PDZ domain containing ring finger 3(minus strand)

Molecule type Change Amino acid[Codon] SO Term
PDZRN3 transcript variant 2NM_001303139.1:c.N/AIntron Variant
PDZRN3 transcript variant 3NM_001303140.1:c.N/AIntron Variant
PDZRN3 transcript variant 4NM_001303141.1:c.N/AIntron Variant
PDZRN3 transcript variant 5NM_001303142.1:c.N/AIntron Variant
PDZRN3 transcript variant 1NM_015009.2:c.N/AIntron Variant
PDZRN3 transcript variant X1XM_017005942.1:c.N/AIntron Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322G=0.957A=0.043
1000GenomesAmericanSub694G=0.900A=0.100
1000GenomesEast AsianSub1008G=0.870A=0.130
1000GenomesEuropeSub1006G=0.860A=0.140
1000GenomesGlobalStudy-wide5008G=0.887A=0.113
1000GenomesSouth AsianSub978G=0.830A=0.170
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854G=0.838A=0.162
The Exome Aggregation ConsortiumAmericanSub21952G=0.927A=0.073
The Exome Aggregation ConsortiumAsianSub25116G=0.851A=0.148
The Exome Aggregation ConsortiumEuropeSub73204G=0.840A=0.159
The Exome Aggregation ConsortiumGlobalStudy-wide121178G=0.858A=0.141
The Exome Aggregation ConsortiumOtherSub906G=0.870A=0.130
The Genome Aggregation DatabaseAfricanSub8710G=0.949A=0.051
The Genome Aggregation DatabaseAmericanSub838G=0.900A=0.100
The Genome Aggregation DatabaseEast AsianSub1620G=0.891A=0.109
The Genome Aggregation DatabaseEuropeSub18478G=0.829A=0.170
The Genome Aggregation DatabaseGlobalStudy-wide29948G=0.870A=0.129
The Genome Aggregation DatabaseOtherSub302G=0.890A=0.110
Trans-Omics for Precision MedicineGlobalStudy-wide29118G=0.896A=0.103
UK 10K study - TwinsTWIN COHORTStudy-wide3708G=0.835A=0.165
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
rs38168310.000379alcohol dependence21314694

eQTL of rs3816831 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 rs3816831 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 )
chr37345860773458858E0678409
chr37348062973481049E06730431
chr37348110373481195E06730905
chr37348133273481834E06731134
chr37349667773496733E06746479
chr37349888173499144E06748683
chr37349934673499400E06749148
chr37349975173499905E06749553
chr37345019673451600E0680
chr37348133273481834E06831134
chr37348216473482403E06831966
chr37348241673482542E06832218
chr37348668173486761E06836483
chr37348700073487445E06836802
chr37349760073497650E06847402
chr37349784473497986E06847646
chr37349802473498214E06847826
chr37348133273481834E06931134
chr37348700073487445E06936802
chr37342753973427589E070-22609
chr37345366573453872E0703467
chr37345425773454340E0704059
chr37345500873455375E0704810
chr37345550573455565E0705307
chr37345572673455905E0705528
chr37345697873457051E0706780
chr37345843473458606E0708236
chr37346785473468118E07017656
chr37346847973469415E07018281
chr37346947873469554E07019280
chr37348668173486761E07036483
chr37348700073487445E07036802
chr37348789973488061E07037701
chr37349297973493035E07042781
chr37349361573493668E07043417
chr37349375473493824E07043556
chr37349741273497469E07047214
chr37349760073497650E07047402
chr37349784473497986E07047646
chr37349802473498214E07047826
chr37349829673498453E07048098
chr37349888173499144E07048683
chr37349934673499400E07049148
chr37349975173499905E07049553
chr37345019673451600E0710
chr37348285373483223E07132655
chr37348668173486761E07136483
chr37348700073487445E07136802
chr37349135673491466E07141158
chr37346025673460357E07210058
chr37347608673476140E07225888
chr37347630873476487E07226110
chr37347654473476819E07226346
chr37348668173486761E07236483
chr37348700073487445E07236802
chr37346785473468118E07317656
chr37347608673476140E07325888
chr37348133273481834E07331134
chr37348285373483223E07332655
chr37348444873484535E07334250
chr37348668173486761E07336483
chr37348700073487445E07336802
chr37349784473497986E07347646
chr37348668173486761E07436483
chr37348700073487445E07436802
chr37340024073400368E081-49830
chr37340053173400751E081-49447
chr37340076773401068E081-49130
chr37347630873476487E08126110
chr37347654473476819E08126346
chr37347682973476883E08126631
chr37348444873484535E08134250
chr37349802473498214E08147826
chr37349829673498453E08148098
chr37349888173499144E08148683
chr37349934673499400E08149148
chr37349975173499905E08149553
chr37340024073400368E082-49830
chr37340053173400751E082-49447










Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr37341550173415561E068-34637
chr37341550173415561E071-34637
chr37341550173415561E072-34637
chr37341550173415561E074-34637