rs3808565

Homo sapiens
A>G
PPP2R2A : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
G=0086 (10366/120180,ExAC)
G=0086 (2605/29964,GnomAD)
G=0079 (2318/29118,TOPMED)
A==0059 (771/13004,GO-ESP)
G=0145 (724/5008,1000G)
G=0038 (146/3854,ALSPAC)
G=0036 (132/3708,TWINSUK)
chr8:26370124 (GRCh38.p7) (8p21.2)
AD
GWASdb2
2   publication(s)
See rs on genome
481 Enhancers around
10 Promoters around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 8NC_000008.11:g.26370124A>G
GRCh37.p13 chr 8NC_000008.10:g.26227640A>G

Gene: PPP2R2A, protein phosphatase 2 regulatory subunit B, alpha(plus strand)

Molecule type Change Amino acid[Codon] SO Term
PPP2R2A transcript variant 2NM_001177591.1:c.N/AIntron Variant
PPP2R2A transcript variant 1NM_002717.3:c.N/AIntron Variant
PPP2R2A transcript variant X2XM_005273559.1:c.N/AIntron Variant
PPP2R2A transcript variant X6XM_005273560.1:c.N/AIntron Variant
PPP2R2A transcript variant X1XM_011544565.1:c.N/AIntron Variant
PPP2R2A transcript variant X4XM_011544566.1:c.N/AIntron Variant
PPP2R2A transcript variant X5XM_011544567.2:c.N/AIntron Variant
PPP2R2A transcript variant X8XM_011544568.1:c.N/AIntron Variant
PPP2R2A transcript variant X7XM_011544569.1:c.N/AIntron Variant
PPP2R2A transcript variant X8XR_949430.2:n.N/AIntron Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322A=0.893G=0.107
1000GenomesAmericanSub694A=0.950G=0.050
1000GenomesEast AsianSub1008A=0.567G=0.433
1000GenomesEuropeSub1006A=0.969G=0.031
1000GenomesGlobalStudy-wide5008A=0.855G=0.145
1000GenomesSouth AsianSub978A=0.920G=0.080
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854A=0.962G=0.038
The Exome Aggregation ConsortiumAmericanSub21674A=0.912G=0.087
The Exome Aggregation ConsortiumAsianSub24920A=0.802G=0.197
The Exome Aggregation ConsortiumEuropeSub72686A=0.952G=0.047
The Exome Aggregation ConsortiumGlobalStudy-wide120180A=0.913G=0.086
The Exome Aggregation ConsortiumOtherSub900A=0.910G=0.090
The Genome Aggregation DatabaseAfricanSub8718A=0.899G=0.101
The Genome Aggregation DatabaseAmericanSub838A=0.920G=0.080
The Genome Aggregation DatabaseEast AsianSub1610A=0.593G=0.407
The Genome Aggregation DatabaseEuropeSub18496A=0.946G=0.053
The Genome Aggregation DatabaseGlobalStudy-wide29964A=0.913G=0.086
The Genome Aggregation DatabaseOtherSub302A=0.950G=0.050
Trans-Omics for Precision MedicineGlobalStudy-wide29118A=0.920G=0.079
UK 10K study - TwinsTWIN COHORTStudy-wide3708A=0.964G=0.036
PMID Title Author Journal
20201924Genome-wide association study of alcohol dependence implicates a region on chromosome 11.Edenberg HJAlcohol Clin Exp Res
21872824Evaluation of PPP2R2A as a prostate cancer susceptibility gene: a comprehensive germline and somatic study.Cheng YCancer Genet

P-Value

SNP ID p-value Traits Study
rs38085650.000281alcohol dependence20201924

eQTL of rs3808565 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 rs3808565 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 )
chr82617767726177761E067-49879
chr82617776326177803E067-49837
chr82617785926177910E067-49730
chr82617796326178176E067-49464
chr82617835426179346E067-48294
chr82617940126179483E067-48157
chr82617955426179697E067-47943
chr82617985726179912E067-47728
chr82618000526180088E067-47552
chr82618013626180658E067-46982
chr82618069626180782E067-46858
chr82618116626181617E067-46023
chr82618448726185548E067-42092
chr82618809726188243E067-39397
chr82618837526188435E067-39205
chr82618852526188579E067-39061
chr82618866826188787E067-38853
chr82618906326189169E067-38471
chr82618924326189293E067-38347
chr82618961826189699E067-37941
chr82618974726189804E067-37836
chr82618994326190004E067-37636
chr82619006126190156E067-37484
chr82619066826190738E067-36902
chr82619101526191103E067-36537
chr82619245726192663E067-34977
chr82619270626192834E067-34806
chr82619334526193546E067-34094
chr82619505726195097E067-32543
chr82619515526195223E067-32417
chr82619573926195826E067-31814
chr82619785026197890E067-29750
chr82619916126199423E067-28217
chr82620002826200125E067-27515
chr82620160226201709E067-25931
chr82620173326201820E067-25820
chr82620900826209071E067-18569
chr82620918026209306E067-18334
chr82620930826209419E067-18221
chr82620951226209658E067-17982
chr82620967526209941E067-17699
chr82621666726216961E067-10679
chr82621709726217151E067-10489
chr82621743326217483E067-10157
chr82621793726218025E067-9615
chr82621849826218538E067-9102
chr82624238926242439E06714749
chr82624257326242680E06714933
chr82624270426242862E06715064
chr82624292126243007E06715281
chr82624310626243526E06715466
chr82624353826243870E06715898
chr82624394226244106E06716302
chr82624661726246671E06718977
chr82624682626246927E06719186
chr82624705726247112E06719417
chr82624719326247342E06719553
chr82624745426247498E06719814
chr82624767026247729E06720030
chr82626119726261385E06733557
chr82626143926262131E06733799
chr82626258526263185E06734945
chr82627369026273750E06746050
chr82627404426274166E06746404
chr82627637526276922E06748735
chr82627693426277013E06749294
chr82627703226277082E06749392
chr82617767726177761E068-49879
chr82617776326177803E068-49837
chr82617785926177910E068-49730
chr82617796326178176E068-49464
chr82617835426179346E068-48294
chr82617940126179483E068-48157
chr82617955426179697E068-47943
chr82617985726179912E068-47728
chr82618000526180088E068-47552
chr82618013626180658E068-46982
chr82618069626180782E068-46858
chr82618116626181617E068-46023
chr82618163726181717E068-45923
chr82618219126182241E068-45399
chr82618279726182951E068-44689
chr82618305526183205E068-44435
chr82618324326183297E068-44343
chr82618339726183441E068-44199
chr82618374626183851E068-43789
chr82618394126184033E068-43607
chr82618419526184453E068-43187
chr82618448726185548E068-42092
chr82618699626187752E068-39888
chr82618798626188046E068-39594
chr82618809726188243E068-39397
chr82618837526188435E068-39205
chr82618852526188579E068-39061
chr82618866826188787E068-38853
chr82618906326189169E068-38471
chr82618924326189293E068-38347
chr82618961826189699E068-37941
chr82618974726189804E068-37836
chr82618994326190004E068-37636
chr82619006126190156E068-37484
chr82619066826190738E068-36902
chr82619101526191103E068-36537
chr82619170026192022E068-35618
chr82619245726192663E068-34977
chr82619270626192834E068-34806
chr82619413126194171E068-33469
chr82619430726194373E068-33267
chr82619448626194635E068-33005
chr82619482926194882E068-32758
chr82619505726195097E068-32543
chr82619515526195223E068-32417
chr82619573926195826E068-31814
chr82619654926196619E068-31021
chr82619685926196939E068-30701
chr82619785026197890E068-29750
chr82619916126199423E068-28217
chr82620002826200125E068-27515
chr82620828026208330E068-19310
chr82620837926208442E068-19198
chr82620900826209071E068-18569
chr82620918026209306E068-18334
chr82620930826209419E068-18221
chr82620951226209658E068-17982
chr82620967526209941E068-17699
chr82621620926216249E068-11391
chr82621639026216614E068-11026
chr82621666726216961E068-10679
chr82621709726217151E068-10489
chr82621743326217483E068-10157
chr82624238926242439E06814749
chr82624257326242680E06814933
chr82624270426242862E06815064
chr82624292126243007E06815281
chr82624310626243526E06815466
chr82624353826243870E06815898
chr82626143926262131E06833799
chr82627637526276922E06848735
chr82627693426277013E06849294
chr82627703226277082E06849392
chr82627729426277449E06849654
chr82617767726177761E069-49879
chr82617776326177803E069-49837
chr82617785926177910E069-49730
chr82617796326178176E069-49464
chr82617835426179346E069-48294
chr82617955426179697E069-47943
chr82617985726179912E069-47728
chr82618000526180088E069-47552
chr82618013626180658E069-46982
chr82618069626180782E069-46858
chr82618163726181717E069-45923
chr82618219126182241E069-45399
chr82618339726183441E069-44199
chr82618374626183851E069-43789
chr82618394126184033E069-43607
chr82618419526184453E069-43187
chr82618448726185548E069-42092
chr82618699626187752E069-39888
chr82618798626188046E069-39594
chr82618809726188243E069-39397
chr82618837526188435E069-39205
chr82618852526188579E069-39061
chr82618866826188787E069-38853
chr82618906326189169E069-38471
chr82618924326189293E069-38347
chr82618961826189699E069-37941
chr82618974726189804E069-37836
chr82618994326190004E069-37636
chr82619006126190156E069-37484
chr82619066826190738E069-36902
chr82619101526191103E069-36537
chr82619170026192022E069-35618
chr82619448626194635E069-33005
chr82619482926194882E069-32758
chr82619505726195097E069-32543
chr82619515526195223E069-32417
chr82619573926195826E069-31814
chr82619654926196619E069-31021
chr82619685926196939E069-30701
chr82619916126199423E069-28217
chr82620002826200125E069-27515
chr82620930826209419E069-18221
chr82620951226209658E069-17982
chr82620967526209941E069-17699
chr82621620926216249E069-11391
chr82621639026216614E069-11026
chr82621666726216961E069-10679
chr82621709726217151E069-10489
chr82621743326217483E069-10157
chr82621793726218025E069-9615
chr82622780026227864E069160
chr82622790626227960E069266
chr82624238926242439E06914749
chr82624257326242680E06914933
chr82624270426242862E06915064
chr82624292126243007E06915281
chr82624310626243526E06915466
chr82624353826243870E06915898
chr82624394226244106E06916302
chr82624414726244191E06916507
chr82626143926262131E06933799
chr82626258526263185E06934945
chr82627369026273750E06946050
chr82627404426274166E06946404
chr82627637526276922E06948735
chr82627693426277013E06949294
chr82627703226277082E06949392
chr82627729426277449E06949654
chr82617767726177761E070-49879
chr82617835426179346E070-48294
chr82624238926242439E07014749
chr82624257326242680E07014933
chr82624270426242862E07015064
chr82624292126243007E07015281
chr82624310626243526E07015466
chr82627637526276922E07048735
chr82627693426277013E07049294
chr82627703226277082E07049392
chr82617767726177761E071-49879
chr82617776326177803E071-49837
chr82617785926177910E071-49730
chr82617796326178176E071-49464
chr82617835426179346E071-48294
chr82617940126179483E071-48157
chr82617955426179697E071-47943
chr82617985726179912E071-47728
chr82618000526180088E071-47552
chr82618013626180658E071-46982
chr82618069626180782E071-46858
chr82618116626181617E071-46023
chr82618163726181717E071-45923
chr82618219126182241E071-45399
chr82618448726185548E071-42092
chr82618573326185783E071-41857
chr82618798626188046E071-39594
chr82618809726188243E071-39397
chr82618837526188435E071-39205
chr82618852526188579E071-39061
chr82618866826188787E071-38853
chr82618906326189169E071-38471
chr82618924326189293E071-38347
chr82618961826189699E071-37941
chr82618974726189804E071-37836
chr82618994326190004E071-37636
chr82619006126190156E071-37484
chr82619066826190738E071-36902
chr82619101526191103E071-36537
chr82619170026192022E071-35618
chr82619245726192663E071-34977
chr82619270626192834E071-34806
chr82619448626194635E071-33005
chr82619482926194882E071-32758
chr82619505726195097E071-32543
chr82619515526195223E071-32417
chr82619654926196619E071-31021
chr82619916126199423E071-28217
chr82620002826200125E071-27515
chr82620160226201709E071-25931
chr82620173326201820E071-25820
chr82620930826209419E071-18221
chr82620951226209658E071-17982
chr82620967526209941E071-17699
chr82621054326210657E071-16983
chr82621374126214013E071-13627
chr82621639026216614E071-11026
chr82621666726216961E071-10679
chr82621709726217151E071-10489
chr82622197626222054E071-5586
chr82622359626223646E071-3994
chr82623231926232419E0714679
chr82623958926239707E07111949
chr82624238926242439E07114749
chr82624257326242680E07114933
chr82624270426242862E07115064
chr82624292126243007E07115281
chr82624310626243526E07115466
chr82624353826243870E07115898
chr82624394226244106E07116302
chr82624414726244191E07116507
chr82624558026245624E07117940
chr82624682626246927E07119186
chr82624705726247112E07119417
chr82624719326247342E07119553
chr82624745426247498E07119814
chr82624767026247729E07120030
chr82626143926262131E07133799
chr82626258526263185E07134945
chr82627637526276922E07148735
chr82627693426277013E07149294
chr82627703226277082E07149392
chr82627729426277449E07149654
chr82617767726177761E072-49879
chr82617776326177803E072-49837
chr82617785926177910E072-49730
chr82617796326178176E072-49464
chr82617835426179346E072-48294
chr82617940126179483E072-48157
chr82617955426179697E072-47943
chr82617985726179912E072-47728
chr82618000526180088E072-47552
chr82618013626180658E072-46982
chr82618069626180782E072-46858
chr82618116626181617E072-46023
chr82618163726181717E072-45923
chr82618219126182241E072-45399
chr82618374626183851E072-43789
chr82618394126184033E072-43607
chr82618419526184453E072-43187
chr82618448726185548E072-42092
chr82618837526188435E072-39205
chr82618852526188579E072-39061
chr82618866826188787E072-38853
chr82618906326189169E072-38471
chr82618924326189293E072-38347
chr82618961826189699E072-37941
chr82618974726189804E072-37836
chr82618994326190004E072-37636
chr82619006126190156E072-37484
chr82619066826190738E072-36902
chr82619101526191103E072-36537
chr82619245726192663E072-34977
chr82619270626192834E072-34806
chr82619334526193546E072-34094
chr82619654926196619E072-31021
chr82619685926196939E072-30701
chr82619916126199423E072-28217
chr82620002826200125E072-27515
chr82620589826206177E072-21463
chr82620624726206350E072-21290
chr82620649226206540E072-21100
chr82620660726206698E072-20942
chr82620687126206921E072-20719
chr82620930826209419E072-18221
chr82620951226209658E072-17982
chr82620967526209941E072-17699
chr82621054326210657E072-16983
chr82621074126210801E072-16839
chr82621374126214013E072-13627
chr82624238926242439E07214749
chr82624257326242680E07214933
chr82624270426242862E07215064
chr82624292126243007E07215281
chr82624310626243526E07215466
chr82624353826243870E07215898
chr82624661726246671E07218977
chr82625035026250391E07222710
chr82625047726250671E07222837
chr82626143926262131E07233799
chr82626258526263185E07234945
chr82627359426273648E07245954
chr82627369026273750E07246050
chr82627404426274166E07246404
chr82627637526276922E07248735
chr82627693426277013E07249294
chr82627703226277082E07249392
chr82617767726177761E073-49879
chr82617776326177803E073-49837
chr82617785926177910E073-49730
chr82617796326178176E073-49464
chr82617835426179346E073-48294
chr82617940126179483E073-48157
chr82617955426179697E073-47943
chr82617985726179912E073-47728
chr82618000526180088E073-47552
chr82618013626180658E073-46982
chr82618069626180782E073-46858
chr82618116626181617E073-46023
chr82618163726181717E073-45923
chr82618219126182241E073-45399
chr82618279726182951E073-44689
chr82618448726185548E073-42092
chr82620002826200125E073-27515
chr82620918026209306E073-18334
chr82620930826209419E073-18221
chr82620951226209658E073-17982
chr82620967526209941E073-17699
chr82627637526276922E07348735
chr82627693426277013E07349294
chr82617767726177761E074-49879
chr82617776326177803E074-49837
chr82617785926177910E074-49730
chr82617796326178176E074-49464
chr82617835426179346E074-48294
chr82617940126179483E074-48157
chr82617955426179697E074-47943
chr82617985726179912E074-47728
chr82618000526180088E074-47552
chr82618013626180658E074-46982
chr82618069626180782E074-46858
chr82618116626181617E074-46023
chr82618163726181717E074-45923
chr82618419526184453E074-43187
chr82618448726185548E074-42092
chr82618699626187752E074-39888
chr82618798626188046E074-39594
chr82618809726188243E074-39397
chr82618837526188435E074-39205
chr82618852526188579E074-39061
chr82618866826188787E074-38853
chr82618906326189169E074-38471
chr82618924326189293E074-38347
chr82618961826189699E074-37941
chr82618974726189804E074-37836
chr82618994326190004E074-37636
chr82619006126190156E074-37484
chr82619066826190738E074-36902
chr82619101526191103E074-36537
chr82619170026192022E074-35618
chr82619245726192663E074-34977
chr82619270626192834E074-34806
chr82619334526193546E074-34094
chr82619413126194171E074-33469
chr82619430726194373E074-33267
chr82619448626194635E074-33005
chr82619482926194882E074-32758
chr82619505726195097E074-32543
chr82619515526195223E074-32417
chr82619654926196619E074-31021
chr82619916126199423E074-28217
chr82620002826200125E074-27515
chr82620809926208196E074-19444
chr82620918026209306E074-18334
chr82620930826209419E074-18221
chr82620951226209658E074-17982
chr82620967526209941E074-17699
chr82621620926216249E074-11391
chr82621639026216614E074-11026
chr82621666726216961E074-10679
chr82622197626222054E074-5586
chr82624238926242439E07414749
chr82624257326242680E07414933
chr82624270426242862E07415064
chr82624292126243007E07415281
chr82624310626243526E07415466
chr82624353826243870E07415898
chr82624394226244106E07416302
chr82624414726244191E07416507
chr82624427926244331E07416639
chr82624661726246671E07418977
chr82626143926262131E07433799
chr82626258526263185E07434945
chr82627637526276922E07448735
chr82627693426277013E07449294
chr82627703226277082E07449392
chr82627729426277449E07449654
chr82624238926242439E08114749
chr82624257326242680E08114933
chr82624270426242862E08115064
chr82624292126243007E08115281
chr82624310626243526E08115466
chr82624353826243870E08115898
chr82624394226244106E08116302
chr82624414726244191E08116507
chr82624558026245624E08117940
chr82624661726246671E08118977
chr82624682626246927E08119186
chr82624705726247112E08119417
chr82624719326247342E08119553
chr82624745426247498E08119814
chr82624767026247729E08120030
chr82625035026250391E08122710
chr82625047726250671E08122837
chr82627552926275584E08147889
chr82627603926276089E08148399
chr82627637526276922E08148735
chr82627729426277449E08149654
chr82623958926239707E08211949
chr82624558026245624E08217940
chr82624593226245986E08218292
chr82624612226246172E08218482
chr82624643626246480E08218796
chr82624661726246671E08218977
chr82624682626246927E08219186
chr82624705726247112E08219417
chr82624719326247342E08219553
chr82627603926276089E08248399
chr82627637526276922E08248735
chr82627693426277013E08249294
chr82627703226277082E08249392
chr82627729426277449E08249654










Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr82623976926242250E06712129
chr82623976926242250E06812129
chr82623976926242250E06912129
chr82623976926242250E07012129
chr82623976926242250E07112129
chr82623976926242250E07212129
chr82623976926242250E07312129
chr82623976926242250E07412129
chr82623976926242250E08112129
chr82623976926242250E08212129