rs12632755

Homo sapiens
C>T
PDZRN3 : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
T=0399 (11944/29924,GnomAD)
T=0304 (8877/29118,TOPMED)
T=0409 (2046/5008,1000G)
T=0443 (1709/3854,ALSPAC)
T=0449 (1664/3708,TWINSUK)
chr3:73499184 (GRCh38.p7) (3p13)
AD
GWASdb2
1   publication(s)
See rs on genome
242 Enhancers around
0 Promoter around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 3NC_000003.12:g.73499184C>T
GRCh37.p13 chr 3NC_000003.11:g.73548335C>T

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 1NM_015009.2:c.N/AIntron Variant
PDZRN3 transcript variant 4NM_001303141.1:c.N/AGenic Upstream Transcript Variant
PDZRN3 transcript variant 5NM_001303142.1:c.N/AGenic Upstream Transcript Variant
PDZRN3 transcript variant X1XM_017005942.1:c.N/AIntron Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322C=0.958T=0.042
1000GenomesAmericanSub694C=0.470T=0.530
1000GenomesEast AsianSub1008C=0.313T=0.687
1000GenomesEuropeSub1006C=0.540T=0.460
1000GenomesGlobalStudy-wide5008C=0.591T=0.409
1000GenomesSouth AsianSub978C=0.520T=0.480
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854C=0.557T=0.443
The Genome Aggregation DatabaseAfricanSub8714C=0.892T=0.108
The Genome Aggregation DatabaseAmericanSub832C=0.430T=0.570
The Genome Aggregation DatabaseEast AsianSub1622C=0.318T=0.682
The Genome Aggregation DatabaseEuropeSub18454C=0.495T=0.504
The Genome Aggregation DatabaseGlobalStudy-wide29924C=0.600T=0.399
The Genome Aggregation DatabaseOtherSub302C=0.640T=0.360
Trans-Omics for Precision MedicineGlobalStudy-wide29118C=0.695T=0.304
UK 10K study - TwinsTWIN COHORTStudy-wide3708C=0.551T=0.449
PMID Title Author Journal
20201924Genome-wide association study of alcohol dependence implicates a region on chromosome 11.Edenberg HJAlcohol Clin Exp Res

P-Value

SNP ID p-value Traits Study
rs126327550.00042alcohol dependence(early age of onset)20201924
rs126327550.00056alcohol dependence20201924

eQTL of rs12632755 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 rs12632755 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 )
chr37349888173499144E067-49191
chr37349934673499400E067-48935
chr37349975173499905E067-48430
chr37349993073500418E067-47917
chr37350046673501085E067-47250
chr37350115273501202E067-47133
chr37350130273501406E067-46929
chr37351651273516566E067-31769
chr37353495573535005E067-13330
chr37353508673535256E067-13079
chr37353530073535484E067-12851
chr37355333173553737E0674996
chr37355794773558271E0679612
chr37355837773558455E06710042
chr37356049373560606E06712158
chr37356067473561765E06712339
chr37356227873562759E06713943
chr37356564873566285E06717313
chr37356844073568597E06720105
chr37356875173569065E06720416
chr37356918973569279E06720854
chr37356930273569379E06720967
chr37356976273569832E06721427
chr37359585073597995E06747515
chr37359804673598121E06749711
chr37353682173537031E068-11304
chr37353705473537128E068-11207
chr37355333173553737E0684996
chr37356049373560606E06812158
chr37356067473561765E06812339
chr37356959473569728E06821259
chr37356976273569832E06821427
chr37356992373570797E06821588
chr37359224273592292E06843907
chr37359277873592856E06844443
chr37359585073597995E06847515
chr37359804673598121E06849711
chr37353508673535256E069-13079
chr37353530073535484E069-12851
chr37353984773540471E069-7864
chr37355272773553236E0694392
chr37355333173553737E0694996
chr37355735373557435E0699018
chr37356049373560606E06912158
chr37356227873562759E06913943
chr37356918973569279E06920854
chr37356930273569379E06920967
chr37356959473569728E06921259
chr37356976273569832E06921427
chr37357846573579089E06930130
chr37359224273592292E06943907
chr37359585073597995E06947515
chr37359804673598121E06949711
chr37349888173499144E070-49191
chr37349934673499400E070-48935
chr37349975173499905E070-48430
chr37349993073500418E070-47917
chr37350046673501085E070-47250
chr37350115273501202E070-47133
chr37350130273501406E070-46929
chr37350177673501998E070-46337
chr37350286173503111E070-45224
chr37350314773503205E070-45130
chr37351500573515055E070-33280
chr37351521273515477E070-32858
chr37351566473515732E070-32603
chr37352068473520793E070-27542
chr37352105073521157E070-27178
chr37352118673521466E070-26869
chr37352148673521552E070-26783
chr37352157273521672E070-26663
chr37352244673522543E070-25792
chr37352286273523511E070-24824
chr37353105573531276E070-17059
chr37353215773532373E070-15962
chr37353253773532618E070-15717
chr37353287473532938E070-15397
chr37353334673533454E070-14881
chr37353349273534108E070-14227
chr37353462373534702E070-13633
chr37353495573535005E070-13330
chr37353508673535256E070-13079
chr37353530073535484E070-12851
chr37353645873536518E070-11817
chr37353661473536724E070-11611
chr37353903873539262E070-9073
chr37353939273539512E070-8823
chr37353963873539692E070-8643
chr37353984773540471E070-7864
chr37354170273541881E070-6454
chr37354227373542328E070-6007
chr37354247173542596E070-5739
chr37354265273542703E070-5632
chr37354293173543022E070-5313
chr37354314173543342E070-4993
chr37354412973544179E070-4156
chr37354484173544882E070-3453
chr37354507873545186E070-3149
chr37354607973546168E070-2167
chr37354728173547372E070-963
chr37354804873548098E070-237
chr37354821573548387E0700
chr37354853273548654E070197
chr37354903173549111E070696
chr37354959873549689E0701263
chr37355030173550394E0701966
chr37355272773553236E0704392
chr37355333173553737E0704996
chr37355381073553864E0705475
chr37355410873554273E0705773
chr37355673073556925E0708395
chr37355735373557435E0709018
chr37355745773557875E0709122
chr37355794773558271E0709612
chr37355837773558455E07010042
chr37355858573559791E07010250
chr37356023873560288E07011903
chr37356227873562759E07013943
chr37356293273563004E07014597
chr37356321773563677E07014882
chr37356564873566285E07017313
chr37356807773568179E07019742
chr37356844073568597E07020105
chr37356875173569065E07020416
chr37356918973569279E07020854
chr37356930273569379E07020967
chr37356959473569728E07021259
chr37357087673570943E07022541
chr37357098273571237E07022647
chr37357123873571338E07022903
chr37357666773576821E07028332
chr37357696973577113E07028634
chr37357736973577516E07029034
chr37357846573579089E07030130
chr37358510173585379E07036766
chr37358558873585638E07037253
chr37358580273586663E07037467
chr37358751373587604E07039178
chr37358793373587983E07039598
chr37359224273592292E07043907
chr37359277873592856E07044443
chr37359367573593725E07045340
chr37359386773594118E07045532
chr37359585073597995E07047515
chr37353984773540471E071-7864
chr37354061173540700E071-7635
chr37354084773540891E071-7444
chr37354105973541109E071-7226
chr37354149973541614E071-6721
chr37354170273541881E071-6454
chr37355735373557435E0719018
chr37355745773557875E0719122
chr37355794773558271E0719612
chr37355837773558455E07110042
chr37356023873560288E07111903
chr37356049373560606E07112158
chr37356067473561765E07112339
chr37356227873562759E07113943
chr37356844073568597E07120105
chr37359277873592856E07144443
chr37359585073597995E07147515
chr37359804673598121E07149711
chr37353508673535256E072-13079
chr37353530073535484E072-12851
chr37354314173543342E072-4993
chr37354804873548098E072-237
chr37354821573548387E0720
chr37354853273548654E072197
chr37354903173549111E072696
chr37355333173553737E0724996
chr37356023873560288E07211903
chr37356049373560606E07212158
chr37356875173569065E07220416
chr37356918973569279E07220854
chr37356930273569379E07220967
chr37356959473569728E07221259
chr37356976273569832E07221427
chr37356992373570797E07221588
chr37357666773576821E07228332
chr37357696973577113E07228634
chr37357736973577516E07229034
chr37357777073577999E07229435
chr37357846573579089E07230130
chr37357919673579450E07230861
chr37358510173585379E07236766
chr37358558873585638E07237253
chr37359585073597995E07247515
chr37359804673598121E07249711
chr37352068473520793E073-27542
chr37352105073521157E073-27178
chr37352118673521466E073-26869
chr37353495573535005E073-13330
chr37353508673535256E073-13079
chr37353530073535484E073-12851
chr37354149973541614E073-6721
chr37354170273541881E073-6454
chr37355735373557435E0739018
chr37355745773557875E0739122
chr37355794773558271E0739612
chr37355837773558455E07310042
chr37355858573559791E07310250
chr37356023873560288E07311903
chr37356049373560606E07312158
chr37356067473561765E07312339
chr37356564873566285E07317313
chr37356918973569279E07320854
chr37356930273569379E07320967
chr37356959473569728E07321259
chr37356976273569832E07321427
chr37356992373570797E07321588
chr37357919673579450E07330861
chr37359224273592292E07343907
chr37359277873592856E07344443
chr37359585073597995E07347515
chr37359804673598121E07349711
chr37355171373552248E0743378
chr37356023873560288E07411903
chr37356049373560606E07412158
chr37356992373570797E07421588
chr37349888173499144E081-49191
chr37349934673499400E081-48935
chr37349975173499905E081-48430
chr37352068473520793E081-27542
chr37356023873560288E08111903
chr37356049373560606E08112158
chr37356067473561765E08112339
chr37356918973569279E08120854
chr37356930273569379E08120967
chr37356959473569728E08121259
chr37356976273569832E08121427
chr37356992373570797E08121588
chr37357087673570943E08122541
chr37357098273571237E08122647
chr37357123873571338E08122903
chr37357777073577999E08129435
chr37359386773594118E08145532
chr37356067473561765E08212339
chr37356527173565397E08216936
chr37356976273569832E08221427
chr37356992373570797E08221588
chr37357829373578400E08229958
chr37357846573579089E08230130