rs12632758

Homo sapiens
C>T
PDZRN3 : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
T=0424 (12698/29910,GnomAD)
T=0346 (10078/29118,TOPMED)
T=0429 (2149/5008,1000G)
T=0443 (1708/3854,ALSPAC)
T=0448 (1662/3708,TWINSUK)
chr3:73499249 (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.73499249C>T
GRCh37.p13 chr 3NC_000003.11:g.73548400C>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=0.860T=0.140
1000GenomesAmericanSub694C=0.460T=0.540
1000GenomesEast AsianSub1008C=0.343T=0.657
1000GenomesEuropeSub1006C=0.540T=0.460
1000GenomesGlobalStudy-wide5008C=0.571T=0.429
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 DatabaseAfricanSub8708C=0.802T=0.198
The Genome Aggregation DatabaseAmericanSub834C=0.430T=0.570
The Genome Aggregation DatabaseEast AsianSub1616C=0.343T=0.657
The Genome Aggregation DatabaseEuropeSub18450C=0.494T=0.505
The Genome Aggregation DatabaseGlobalStudy-wide29910C=0.575T=0.424
The Genome Aggregation DatabaseOtherSub302C=0.640T=0.360
Trans-Omics for Precision MedicineGlobalStudy-wide29118C=0.653T=0.346
UK 10K study - TwinsTWIN COHORTStudy-wide3708C=0.552T=0.448
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
rs126327580.00049alcohol dependence(early age of onset)20201924
rs126327580.00065alcohol dependence20201924

eQTL of rs12632758 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 rs12632758 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 )
chr37349888173499144E067-49256
chr37349934673499400E067-49000
chr37349975173499905E067-48495
chr37349993073500418E067-47982
chr37350046673501085E067-47315
chr37350115273501202E067-47198
chr37350130273501406E067-46994
chr37351651273516566E067-31834
chr37353495573535005E067-13395
chr37353508673535256E067-13144
chr37353530073535484E067-12916
chr37355333173553737E0674931
chr37355794773558271E0679547
chr37355837773558455E0679977
chr37356049373560606E06712093
chr37356067473561765E06712274
chr37356227873562759E06713878
chr37356564873566285E06717248
chr37356844073568597E06720040
chr37356875173569065E06720351
chr37356918973569279E06720789
chr37356930273569379E06720902
chr37356976273569832E06721362
chr37359585073597995E06747450
chr37359804673598121E06749646
chr37353682173537031E068-11369
chr37353705473537128E068-11272
chr37355333173553737E0684931
chr37356049373560606E06812093
chr37356067473561765E06812274
chr37356959473569728E06821194
chr37356976273569832E06821362
chr37356992373570797E06821523
chr37359224273592292E06843842
chr37359277873592856E06844378
chr37359585073597995E06847450
chr37359804673598121E06849646
chr37353508673535256E069-13144
chr37353530073535484E069-12916
chr37353984773540471E069-7929
chr37355272773553236E0694327
chr37355333173553737E0694931
chr37355735373557435E0698953
chr37356049373560606E06912093
chr37356227873562759E06913878
chr37356918973569279E06920789
chr37356930273569379E06920902
chr37356959473569728E06921194
chr37356976273569832E06921362
chr37357846573579089E06930065
chr37359224273592292E06943842
chr37359585073597995E06947450
chr37359804673598121E06949646
chr37349888173499144E070-49256
chr37349934673499400E070-49000
chr37349975173499905E070-48495
chr37349993073500418E070-47982
chr37350046673501085E070-47315
chr37350115273501202E070-47198
chr37350130273501406E070-46994
chr37350177673501998E070-46402
chr37350286173503111E070-45289
chr37350314773503205E070-45195
chr37351500573515055E070-33345
chr37351521273515477E070-32923
chr37351566473515732E070-32668
chr37352068473520793E070-27607
chr37352105073521157E070-27243
chr37352118673521466E070-26934
chr37352148673521552E070-26848
chr37352157273521672E070-26728
chr37352244673522543E070-25857
chr37352286273523511E070-24889
chr37353105573531276E070-17124
chr37353215773532373E070-16027
chr37353253773532618E070-15782
chr37353287473532938E070-15462
chr37353334673533454E070-14946
chr37353349273534108E070-14292
chr37353462373534702E070-13698
chr37353495573535005E070-13395
chr37353508673535256E070-13144
chr37353530073535484E070-12916
chr37353645873536518E070-11882
chr37353661473536724E070-11676
chr37353903873539262E070-9138
chr37353939273539512E070-8888
chr37353963873539692E070-8708
chr37353984773540471E070-7929
chr37354170273541881E070-6519
chr37354227373542328E070-6072
chr37354247173542596E070-5804
chr37354265273542703E070-5697
chr37354293173543022E070-5378
chr37354314173543342E070-5058
chr37354412973544179E070-4221
chr37354484173544882E070-3518
chr37354507873545186E070-3214
chr37354607973546168E070-2232
chr37354728173547372E070-1028
chr37354804873548098E070-302
chr37354821573548387E070-13
chr37354853273548654E070132
chr37354903173549111E070631
chr37354959873549689E0701198
chr37355030173550394E0701901
chr37355272773553236E0704327
chr37355333173553737E0704931
chr37355381073553864E0705410
chr37355410873554273E0705708
chr37355673073556925E0708330
chr37355735373557435E0708953
chr37355745773557875E0709057
chr37355794773558271E0709547
chr37355837773558455E0709977
chr37355858573559791E07010185
chr37356023873560288E07011838
chr37356227873562759E07013878
chr37356293273563004E07014532
chr37356321773563677E07014817
chr37356564873566285E07017248
chr37356807773568179E07019677
chr37356844073568597E07020040
chr37356875173569065E07020351
chr37356918973569279E07020789
chr37356930273569379E07020902
chr37356959473569728E07021194
chr37357087673570943E07022476
chr37357098273571237E07022582
chr37357123873571338E07022838
chr37357666773576821E07028267
chr37357696973577113E07028569
chr37357736973577516E07028969
chr37357846573579089E07030065
chr37358510173585379E07036701
chr37358558873585638E07037188
chr37358580273586663E07037402
chr37358751373587604E07039113
chr37358793373587983E07039533
chr37359224273592292E07043842
chr37359277873592856E07044378
chr37359367573593725E07045275
chr37359386773594118E07045467
chr37359585073597995E07047450
chr37353984773540471E071-7929
chr37354061173540700E071-7700
chr37354084773540891E071-7509
chr37354105973541109E071-7291
chr37354149973541614E071-6786
chr37354170273541881E071-6519
chr37355735373557435E0718953
chr37355745773557875E0719057
chr37355794773558271E0719547
chr37355837773558455E0719977
chr37356023873560288E07111838
chr37356049373560606E07112093
chr37356067473561765E07112274
chr37356227873562759E07113878
chr37356844073568597E07120040
chr37359277873592856E07144378
chr37359585073597995E07147450
chr37359804673598121E07149646
chr37353508673535256E072-13144
chr37353530073535484E072-12916
chr37354314173543342E072-5058
chr37354804873548098E072-302
chr37354821573548387E072-13
chr37354853273548654E072132
chr37354903173549111E072631
chr37355333173553737E0724931
chr37356023873560288E07211838
chr37356049373560606E07212093
chr37356875173569065E07220351
chr37356918973569279E07220789
chr37356930273569379E07220902
chr37356959473569728E07221194
chr37356976273569832E07221362
chr37356992373570797E07221523
chr37357666773576821E07228267
chr37357696973577113E07228569
chr37357736973577516E07228969
chr37357777073577999E07229370
chr37357846573579089E07230065
chr37357919673579450E07230796
chr37358510173585379E07236701
chr37358558873585638E07237188
chr37359585073597995E07247450
chr37359804673598121E07249646
chr37352068473520793E073-27607
chr37352105073521157E073-27243
chr37352118673521466E073-26934
chr37353495573535005E073-13395
chr37353508673535256E073-13144
chr37353530073535484E073-12916
chr37354149973541614E073-6786
chr37354170273541881E073-6519
chr37355735373557435E0738953
chr37355745773557875E0739057
chr37355794773558271E0739547
chr37355837773558455E0739977
chr37355858573559791E07310185
chr37356023873560288E07311838
chr37356049373560606E07312093
chr37356067473561765E07312274
chr37356564873566285E07317248
chr37356918973569279E07320789
chr37356930273569379E07320902
chr37356959473569728E07321194
chr37356976273569832E07321362
chr37356992373570797E07321523
chr37357919673579450E07330796
chr37359224273592292E07343842
chr37359277873592856E07344378
chr37359585073597995E07347450
chr37359804673598121E07349646
chr37355171373552248E0743313
chr37356023873560288E07411838
chr37356049373560606E07412093
chr37356992373570797E07421523
chr37349888173499144E081-49256
chr37349934673499400E081-49000
chr37349975173499905E081-48495
chr37352068473520793E081-27607
chr37356023873560288E08111838
chr37356049373560606E08112093
chr37356067473561765E08112274
chr37356918973569279E08120789
chr37356930273569379E08120902
chr37356959473569728E08121194
chr37356976273569832E08121362
chr37356992373570797E08121523
chr37357087673570943E08122476
chr37357098273571237E08122582
chr37357123873571338E08122838
chr37357777073577999E08129370
chr37359386773594118E08145467
chr37356067473561765E08212274
chr37356527173565397E08216871
chr37356976273569832E08221362
chr37356992373570797E08221523
chr37357829373578400E08229893
chr37357846573579089E08230065