rs12303266

Homo sapiens
C>T
PPM1H : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
T=0182 (5458/29934,GnomAD)
T=0208 (6060/29118,TOPMED)
T=0181 (904/5008,1000G)
T=0138 (532/3854,ALSPAC)
T=0141 (523/3708,TWINSUK)
chr12:62774165 (GRCh38.p7) (12q14.2)
AD
GWASdb2
1   publication(s)
See rs on genome
0 Promoter around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 12NC_000012.12:g.62774165C>T
GRCh37.p13 chr 12NC_000012.11:g.63167945C>T

Gene: PPM1H, protein phosphatase, Mg2+/Mn2+ dependent 1H(minus strand)

Molecule type Change Amino acid[Codon] SO Term
PPM1H transcriptNM_020700.1:c.N/AIntron Variant
PPM1H transcript variant X1XM_011538578.2:c.N/AIntron Variant
PPM1H transcript variant X3XM_011538579.1:c.N/AIntron Variant
PPM1H transcript variant X2XM_017019676.1:c.N/AIntron Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322C=0.685T=0.315
1000GenomesAmericanSub694C=0.900T=0.100
1000GenomesEast AsianSub1008C=0.909T=0.091
1000GenomesEuropeSub1006C=0.874T=0.126
1000GenomesGlobalStudy-wide5008C=0.819T=0.181
1000GenomesSouth AsianSub978C=0.800T=0.200
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854C=0.862T=0.138
The Genome Aggregation DatabaseAfricanSub8706C=0.695T=0.305
The Genome Aggregation DatabaseAmericanSub838C=0.910T=0.090
The Genome Aggregation DatabaseEast AsianSub1620C=0.900T=0.100
The Genome Aggregation DatabaseEuropeSub18468C=0.863T=0.136
The Genome Aggregation DatabaseGlobalStudy-wide29934C=0.817T=0.182
The Genome Aggregation DatabaseOtherSub302C=0.840T=0.160
Trans-Omics for Precision MedicineGlobalStudy-wide29118C=0.791T=0.208
UK 10K study - TwinsTWIN COHORTStudy-wide3708C=0.859T=0.141
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
rs123032667.49E-05alcohol dependence21703634

eQTL of rs12303266 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 rs12303266 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 )
chr126311806463119317E067-48628
chr126312234563122513E067-45432
chr126312256063122702E067-45243
chr126312272663123003E067-44942
chr126312302063123279E067-44666
chr126312445963124760E067-43185
chr126312483463126358E067-41587
chr126313284663133892E067-34053
chr126313397363134125E067-33820
chr126313424263134362E067-33583
chr126313496763135370E067-32575
chr126313576163135811E067-32134
chr126314241763142732E067-25213
chr126314294363143025E067-24920
chr126314316563143455E067-24490
chr126314347763143527E067-24418
chr126314372463143774E067-24171
chr126314395163144039E067-23906
chr126314429363144338E067-23607
chr126314458063144770E067-23175
chr126314477663144874E067-23071
chr126314503963145268E067-22677
chr126314542063145617E067-22328
chr126314566863145835E067-22110
chr126315050963150615E067-17330
chr126315066063150807E067-17138
chr126315084263150896E067-17049
chr126316043863160609E067-7336
chr126316088763160994E067-6951
chr126316103263161183E067-6762
chr126316122763161297E067-6648
chr126316130663161583E067-6362
chr126317938963180412E06711444
chr126318211463182208E06714169
chr126318241963182557E06714474
chr126318678663186966E06718841
chr126318704163187173E06719096
chr126318736063187505E06719415
chr126318751663188137E06719571
chr126319688263197069E06728937
chr126319725563197305E06729310
chr126311806463119317E068-48628
chr126312234563122513E068-45432
chr126312256063122702E068-45243
chr126312272663123003E068-44942
chr126312302063123279E068-44666
chr126312329863123657E068-44288
chr126312402063124287E068-43658
chr126312430063124449E068-43496
chr126312445963124760E068-43185
chr126312483463126358E068-41587
chr126314477663144874E068-23071
chr126314503963145268E068-22677
chr126316088763160994E068-6951
chr126316435763164532E068-3413
chr126316454663165420E068-2525
chr126317768163178178E0689736
chr126318736063187505E06819415
chr126318751663188137E06819571
chr126318822963188560E06820284
chr126320633863206420E06838393
chr126320651363206559E06838568
chr126321131263212421E06843367
chr126312201163122071E069-45874
chr126312234563122513E069-45432
chr126312256063122702E069-45243
chr126312272663123003E069-44942
chr126312302063123279E069-44666
chr126312329863123657E069-44288
chr126312402063124287E069-43658
chr126312430063124449E069-43496
chr126312445963124760E069-43185
chr126313223563132792E069-35153
chr126313284663133892E069-34053
chr126313397363134125E069-33820
chr126313424263134362E069-33583
chr126314458063144770E069-23175
chr126314477663144874E069-23071
chr126314503963145268E069-22677
chr126314542063145617E069-22328
chr126314566863145835E069-22110
chr126315155463151608E069-16337
chr126315169463151928E069-16017
chr126315195263152382E069-15563
chr126316043863160609E069-7336
chr126316088763160994E069-6951
chr126316103263161183E069-6762
chr126316122763161297E069-6648
chr126316130663161583E069-6362
chr126316185363161950E069-5995
chr126316206763162117E069-5828
chr126316557263165774E069-2171
chr126318195063182070E06914005
chr126318211463182208E06914169
chr126318241963182557E06914474
chr126318704163187173E06919096
chr126318736063187505E06919415
chr126318751663188137E06919571
chr126318822963188560E06920284
chr126318857363188623E06920628
chr126321131263212421E06943367
chr126318751663188137E07019571
chr126311806463119317E071-48628
chr126312256063122702E071-45243
chr126312272663123003E071-44942
chr126312302063123279E071-44666
chr126312329863123657E071-44288
chr126312445963124760E071-43185
chr126312483463126358E071-41587
chr126313284663133892E071-34053
chr126313397363134125E071-33820
chr126313424263134362E071-33583
chr126313445663134550E071-33395
chr126313468963134739E071-33206
chr126313576163135811E071-32134
chr126313839763138741E071-29204
chr126313887263138932E071-29013
chr126313917063139405E071-28540
chr126314294363143025E071-24920
chr126314316563143455E071-24490
chr126314347763143527E071-24418
chr126314372463143774E071-24171
chr126314395163144039E071-23906
chr126314429363144338E071-23607
chr126314503963145268E071-22677
chr126314542063145617E071-22328
chr126314566863145835E071-22110
chr126315169463151928E071-16017
chr126315195263152382E071-15563
chr126316043863160609E071-7336
chr126316088763160994E071-6951
chr126316103263161183E071-6762
chr126316122763161297E071-6648
chr126316130663161583E071-6362
chr126316296463163056E071-4889
chr126316314863163250E071-4695
chr126316327063163449E071-4496
chr126316351863164207E071-3738
chr126316435763164532E071-3413
chr126316454663165420E071-2525
chr126316557263165774E071-2171
chr126317768163178178E0719736
chr126317843363178755E07110488
chr126317938963180412E07111444
chr126318149263181719E07113547
chr126318173463181837E07113789
chr126318195063182070E07114005
chr126318211463182208E07114169
chr126318678663186966E07118841
chr126318704163187173E07119096
chr126318736063187505E07119415
chr126318751663188137E07119571
chr126319688263197069E07128937
chr126319725563197305E07129310
chr126319772163197771E07129776
chr126319780763197912E07129862
chr126320633863206420E07138393
chr126320651363206559E07138568
chr126320674763207305E07138802
chr126320732763207583E07139382
chr126321121563211259E07143270
chr126321131263212421E07143367
chr126311806463119317E072-48628
chr126312201163122071E072-45874
chr126312234563122513E072-45432
chr126312256063122702E072-45243
chr126312272663123003E072-44942
chr126312302063123279E072-44666
chr126312329863123657E072-44288
chr126312402063124287E072-43658
chr126312483463126358E072-41587
chr126313142063131701E072-36244
chr126313193763132199E072-35746
chr126313223563132792E072-35153
chr126313397363134125E072-33820
chr126313424263134362E072-33583
chr126313445663134550E072-33395
chr126313468963134739E072-33206
chr126313496763135370E072-32575
chr126313576163135811E072-32134
chr126313606563136162E072-31783
chr126313629363136343E072-31602
chr126313839763138741E072-29204
chr126313887263138932E072-29013
chr126314458063144770E072-23175
chr126314477663144874E072-23071
chr126314503963145268E072-22677
chr126316043863160609E072-7336
chr126316088763160994E072-6951
chr126316103263161183E072-6762
chr126316122763161297E072-6648
chr126316130663161583E072-6362
chr126316185363161950E072-5995
chr126317048263170536E0722537
chr126317055363170656E0722608
chr126317071763170855E0722772
chr126317088763170996E0722942
chr126317105363171148E0723108
chr126317118863171271E0723243
chr126317768163178178E0729736
chr126317938963180412E07211444
chr126318048963180624E07212544
chr126318071963180791E07212774
chr126318082563181239E07212880
chr126318126563181372E07213320
chr126318173463181837E07213789
chr126318195063182070E07214005
chr126318211463182208E07214169
chr126318241963182557E07214474
chr126318736063187505E07219415
chr126320732763207583E07239382
chr126312234563122513E073-45432
chr126312256063122702E073-45243
chr126312272663123003E073-44942
chr126312302063123279E073-44666
chr126312483463126358E073-41587
chr126313284663133892E073-34053
chr126313397363134125E073-33820
chr126313424263134362E073-33583
chr126316043863160609E073-7336
chr126316088763160994E073-6951
chr126316557263165774E073-2171
chr126317938963180412E07311444
chr126318678663186966E07318841
chr126318704163187173E07319096
chr126318736063187505E07319415
chr126318751663188137E07319571
chr126312234563122513E074-45432
chr126312256063122702E074-45243
chr126312272663123003E074-44942
chr126312302063123279E074-44666
chr126313223563132792E074-35153
chr126313284663133892E074-34053
chr126313397363134125E074-33820
chr126313424263134362E074-33583
chr126313445663134550E074-33395
chr126313468963134739E074-33206
chr126313496763135370E074-32575
chr126313576163135811E074-32134
chr126313606563136162E074-31783
chr126313629363136343E074-31602
chr126314458063144770E074-23175
chr126314477663144874E074-23071
chr126314503963145268E074-22677
chr126314542063145617E074-22328
chr126314566863145835E074-22110
chr126316088763160994E074-6951
chr126317768163178178E0749736
chr126318211463182208E07414169
chr126318241963182557E07414474
chr126318736063187505E07419415
chr126318751663188137E07419571
chr126318822963188560E07420284
chr126319725563197305E07429310
chr126319772163197771E07429776
chr126319780763197912E07429862
chr126320732763207583E07439382
chr126313048063131283E081-36662
chr126316454663165420E081-2525
chr126317768163178178E0819736
chr126318578363185877E08117838
chr126318596563186148E08118020
chr126318615563186660E08118210
chr126318678663186966E08118841
chr126318704163187173E08119096
chr126318736063187505E08119415
chr126318751663188137E08119571
chr126313001563130076E082-37869
chr126313142063131701E082-36244
chr126313193763132199E082-35746
chr126313223563132792E082-35153
chr126317768163178178E0829736
chr126318492463185022E08216979
chr126318531663185388E08217371