rs11079657

Homo sapiens
A>G
PRKCA : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
A==0357 (10693/29896,GnomAD)
A==0418 (12185/29118,TOPMED)
A==0430 (2151/5008,1000G)
A==0230 (887/3854,ALSPAC)
A==0219 (811/3708,TWINSUK)
chr17:66435948 (GRCh38.p7) (17q24.2)
AD
GWASdb2
3   publication(s)
See rs on genome
0 Promoter around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 17NC_000017.11:g.66435948A>G
GRCh37.p13 chr 17NC_000017.10:g.64432066A>G
PRKCA RefSeqGeneNG_012206.1:g.138141A>G

Gene: PRKCA, protein kinase C alpha(plus strand)

Molecule type Change Amino acid[Codon] SO Term
PRKCA transcriptNM_002737.2:c.N/AIntron Variant
PRKCA transcript variant X1XM_017024836.1:c.N/AIntron Variant
PRKCA transcript variant X5XM_017024841.1:c.N/AIntron Variant
PRKCA transcript variant X2XM_017024837.1:c.N/AGenic Upstream Transcript Variant
PRKCA transcript variant X3XM_017024838.1:c.N/AGenic Upstream Transcript Variant
PRKCA transcript variant X4XM_017024839.1:c.N/AGenic Upstream Transcript Variant
PRKCA transcript variant X5XM_017024840.1:c.N/AGenic Upstream Transcript Variant
PRKCA transcript variant X6XR_001752558.1:n.N/AIntron Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322A=0.651G=0.349
1000GenomesAmericanSub694A=0.470G=0.530
1000GenomesEast AsianSub1008A=0.373G=0.627
1000GenomesEuropeSub1006A=0.240G=0.760
1000GenomesGlobalStudy-wide5008A=0.430G=0.570
1000GenomesSouth AsianSub978A=0.350G=0.650
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854A=0.230G=0.770
The Genome Aggregation DatabaseAfricanSub8690A=0.597G=0.403
The Genome Aggregation DatabaseAmericanSub838A=0.460G=0.540
The Genome Aggregation DatabaseEast AsianSub1614A=0.355G=0.645
The Genome Aggregation DatabaseEuropeSub18454A=0.242G=0.757
The Genome Aggregation DatabaseGlobalStudy-wide29896A=0.357G=0.642
The Genome Aggregation DatabaseOtherSub300A=0.250G=0.750
Trans-Omics for Precision MedicineGlobalStudy-wide29118A=0.418G=0.581
UK 10K study - TwinsTWIN COHORTStudy-wide3708A=0.219G=0.781
PMID Title Author Journal
20201924Genome-wide association study of alcohol dependence implicates a region on chromosome 11.Edenberg HJAlcohol Clin Exp Res
19576566PRKCA: a positional candidate gene for body mass index and asthma.Murphy AAm J Hum Genet
20816195Analyses of shared genetic factors between asthma and obesity in children.Melen EJ Allergy Clin Immunol

P-Value

SNP ID p-value Traits Study
rs110796570.000572alcohol dependence20201924

eQTL of rs11079657 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 rs11079657 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 )
chr176438279064383988E067-48078
chr176438402764384176E067-47890
chr176438900864389127E067-42939
chr176438929564389420E067-42646
chr176439181464392158E067-39908
chr176440009964400834E067-31232
chr176440118764401237E067-30829
chr176440129064401356E067-30710
chr176440140864401458E067-30608
chr176440154264401693E067-30373
chr176440173764401809E067-30257
chr176440185564402548E067-29518
chr176440255564402687E067-29379
chr176440271064402875E067-29191
chr176441247264412714E067-19352
chr176441927364420413E067-11653
chr176442594964426068E067-5998
chr176442627064426320E067-5746
chr176442652264426562E067-5504
chr176442691364427332E067-4734
chr176442735764428581E067-3485
chr176443019164430241E067-1825
chr176443027064430354E067-1712
chr176443040364430455E067-1611
chr176443048364430609E067-1457
chr176443279864433109E067732
chr176443677964436912E0674713
chr176443705064437123E0674984
chr176444563464445925E06713568
chr176444624264446387E06714176
chr176444639964446656E06714333
chr176444675964446819E06714693
chr176444684964446919E06714783
chr176444698664447143E06714920
chr176445037464450424E06718308
chr176445103964451102E06718973
chr176445115064451512E06719084
chr176445167364451781E06719607
chr176445206664452116E06720000
chr176445646564456635E06724399
chr176445676564457046E06724699
chr176445797364458489E06725907
chr176445853564458585E06726469
chr176445879064458842E06726724
chr176445896964459468E06726903
chr176446188864462715E06729822
chr176446285364463618E06730787
chr176446439564465434E06732329
chr176446712464467233E06735058
chr176446730664467425E06735240
chr176446743364467557E06735367
chr176446766964467719E06735603
chr176447084664471422E06738780
chr176447406364474113E06741997
chr176438279064383988E068-48078
chr176438402764384176E068-47890
chr176438422464384299E068-47767
chr176438859164388844E068-43222
chr176438900864389127E068-42939
chr176440009964400834E068-31232
chr176440118764401237E068-30829
chr176440129064401356E068-30710
chr176440140864401458E068-30608
chr176440154264401693E068-30373
chr176440173764401809E068-30257
chr176440185564402548E068-29518
chr176440255564402687E068-29379
chr176441063364412404E068-19662
chr176441247264412714E068-19352
chr176441279064413037E068-19029
chr176441651064416623E068-15443
chr176441673664416910E068-15156
chr176441695164417503E068-14563
chr176441927364420413E068-11653
chr176442088664420932E068-11134
chr176442094064421009E068-11057
chr176442145164421518E068-10548
chr176442220664422342E068-9724
chr176442243964423046E068-9020
chr176442594964426068E068-5998
chr176442652264426562E068-5504
chr176442691364427332E068-4734
chr176442735764428581E068-3485
chr176442867364428799E068-3267
chr176442880364428863E068-3203
chr176442889864428948E068-3118
chr176442898964429101E068-2965
chr176442928964429628E068-2438
chr176443019164430241E068-1825
chr176443027064430354E068-1712
chr176443139364431462E068-604
chr176443161664431683E068-383
chr176443210764432147E06841
chr176443238164432460E068315
chr176443246664432521E068400
chr176443259664432705E068530
chr176443279864433109E068732
chr176443359664433825E0681530
chr176443391864433968E0681852
chr176443413264434191E0682066
chr176443431064434537E0682244
chr176443660064436751E0684534
chr176443677964436912E0684713
chr176443705064437123E0684984
chr176443716864437786E0685102
chr176443935864439677E0687292
chr176444380964443902E06811743
chr176444399764444051E06811931
chr176445103964451102E06818973
chr176445115064451512E06819084
chr176445167364451781E06819607
chr176445206664452116E06820000
chr176445570264456437E06823636
chr176445646564456635E06824399
chr176445676564457046E06824699
chr176445726664457316E06825200
chr176445745464457818E06825388
chr176445786364457954E06825797
chr176445797364458489E06825907
chr176445853564458585E06826469
chr176445879064458842E06826724
chr176445896964459468E06826903
chr176446164664461834E06829580
chr176446188864462715E06829822
chr176446285364463618E06830787
chr176446405164464161E06831985
chr176446439564465434E06832329
chr176446556764465661E06833501
chr176446576664466172E06833700
chr176446619064466295E06834124
chr176446937964469677E06837313
chr176447004864470779E06837982
chr176447084664471422E06838780
chr176447156764471629E06839501
chr176447288164472982E06840815
chr176447650964476780E06844443
chr176447709064477230E06845024
chr176447736364477443E06845297
chr176447753364477704E06845467
chr176448148164481753E06849415
chr176448183464481959E06849768
chr176438279064383988E069-48078
chr176438402764384176E069-47890
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chr176439862764398681E069-33385
chr176439928564399335E069-32731
chr176439958064399645E069-32421
chr176440009964400834E069-31232
chr176440118764401237E069-30829
chr176440129064401356E069-30710
chr176440140864401458E069-30608
chr176440154264401693E069-30373
chr176440173764401809E069-30257
chr176440185564402548E069-29518
chr176440255564402687E069-29379
chr176440271064402875E069-29191
chr176441063364412404E069-19662
chr176441247264412714E069-19352
chr176441279064413037E069-19029
chr176441927364420413E069-11653
chr176442088664420932E069-11134
chr176442094064421009E069-11057
chr176442145164421518E069-10548
chr176442220664422342E069-9724
chr176442594964426068E069-5998
chr176442627064426320E069-5746
chr176442652264426562E069-5504
chr176442691364427332E069-4734
chr176442735764428581E069-3485
chr176442867364428799E069-3267
chr176442880364428863E069-3203
chr176442889864428948E069-3118
chr176442898964429101E069-2965
chr176442928964429628E069-2438
chr176443019164430241E069-1825
chr176443027064430354E069-1712
chr176443040364430455E069-1611
chr176443048364430609E069-1457
chr176443066764430762E069-1304
chr176443078364430941E069-1125
chr176443104264431086E069-980
chr176443112164431174E069-892
chr176443139364431462E069-604
chr176443238164432460E069315
chr176443246664432521E069400
chr176443259664432705E069530
chr176443279864433109E069732
chr176443359664433825E0691530
chr176443660064436751E0694534
chr176443677964436912E0694713
chr176443705064437123E0694984
chr176443854464438701E0696478
chr176443883264438882E0696766
chr176443888964438985E0696823
chr176443935864439677E0697292
chr176444136064441538E0699294
chr176444177264441848E0699706
chr176444223064442280E06910164
chr176444268064442902E06910614
chr176444361764443716E06911551
chr176444380964443902E06911743
chr176444399764444051E06911931
chr176444624264446387E06914176
chr176444639964446656E06914333
chr176444675964446819E06914693
chr176444684964446919E06914783
chr176444698664447143E06914920
chr176445103964451102E06918973
chr176445115064451512E06919084
chr176445167364451781E06919607
chr176445206664452116E06920000
chr176445570264456437E06923636
chr176445646564456635E06924399
chr176445676564457046E06924699
chr176445726664457316E06925200
chr176445745464457818E06925388
chr176445786364457954E06925797
chr176445797364458489E06925907
chr176445853564458585E06926469
chr176445879064458842E06926724
chr176445896964459468E06926903
chr176446285364463618E06930787
chr176446405164464161E06931985
chr176446439564465434E06932329
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chr176446576664466172E06933700
chr176446619064466295E06934124
chr176447084664471422E06938780
chr176447156764471629E06939501
chr176448148164481753E06949415
chr176448183464481959E06949768
chr176438267264382757E070-49309
chr176438279064383988E070-48078
chr176438402764384176E070-47890
chr176438754764387617E070-44449
chr176438773764387787E070-44279
chr176438859164388844E070-43222
chr176438900864389127E070-42939
chr176438929564389420E070-42646
chr176438963964389788E070-42278
chr176439046664390562E070-41504
chr176439062764390677E070-41389
chr176439082964390908E070-41158
chr176439392464394120E070-37946
chr176439422964394382E070-37684
chr176439441964394490E070-37576
chr176439453864394603E070-37463
chr176439465264395031E070-37035
chr176439505164395194E070-36872
chr176439540864395476E070-36590
chr176439551764395916E070-36150
chr176439912264399162E070-32904
chr176439928564399335E070-32731
chr176439958064399645E070-32421
chr176440009964400834E070-31232
chr176440118764401237E070-30829
chr176440129064401356E070-30710
chr176440140864401458E070-30608
chr176440154264401693E070-30373
chr176440173764401809E070-30257
chr176440185564402548E070-29518
chr176440255564402687E070-29379
chr176440271064402875E070-29191
chr176440355264403621E070-28445
chr176440907864409361E070-22705
chr176440957464409683E070-22383
chr176440970464409921E070-22145
chr176441032164410413E070-21653
chr176441050964410602E070-21464
chr176441063364412404E070-19662
chr176441247264412714E070-19352
chr176441279064413037E070-19029
chr176441796264418012E070-14054
chr176441814964418257E070-13809
chr176441828964418671E070-13395
chr176441872964418866E070-13200
chr176441927364420413E070-11653
chr176442088664420932E070-11134
chr176442094064421009E070-11057
chr176442594964426068E070-5998
chr176442627064426320E070-5746
chr176442691364427332E070-4734
chr176442867364428799E070-3267
chr176442880364428863E070-3203
chr176442889864428948E070-3118
chr176442898964429101E070-2965
chr176442928964429628E070-2438
chr176443019164430241E070-1825
chr176443027064430354E070-1712
chr176443040364430455E070-1611
chr176443048364430609E070-1457
chr176443066764430762E070-1304
chr176443078364430941E070-1125
chr176443104264431086E070-980
chr176443112164431174E070-892
chr176443139364431462E070-604
chr176443161664431683E070-383
chr176443210764432147E07041
chr176443238164432460E070315
chr176443246664432521E070400
chr176443259664432705E070530
chr176443279864433109E070732
chr176443359664433825E0701530
chr176443391864433968E0701852
chr176443413264434191E0702066
chr176443431064434537E0702244
chr176443486764434974E0702801
chr176443586464435946E0703798
chr176443660064436751E0704534
chr176443677964436912E0704713
chr176443935864439677E0707292
chr176443976164440017E0707695
chr176444025464440532E0708188
chr176444064664440715E0708580
chr176444071664440766E0708650
chr176444103364441147E0708967
chr176444119264441242E0709126
chr176444126064441349E0709194
chr176444136064441538E0709294
chr176444177264441848E0709706
chr176444563464445925E07013568
chr176445103964451102E07018973
chr176445115064451512E07019084
chr176445646564456635E07024399
chr176445676564457046E07024699
chr176445745464457818E07025388
chr176445786364457954E07025797
chr176445797364458489E07025907
chr176445853564458585E07026469
chr176445879064458842E07026724
chr176445896964459468E07026903
chr176446439564465434E07032329
chr176446937964469677E07037313
chr176447004864470779E07037982
chr176447084664471422E07038780
chr176447266364472772E07040597
chr176447288164472982E07040815
chr176447638564476446E07044319
chr176447650964476780E07044443
chr176447709064477230E07045024
chr176447736364477443E07045297
chr176447753364477704E07045467
chr176447771164477789E07045645
chr176448148164481753E07049415
chr176448183464481959E07049768
chr176438221264382367E071-49699
chr176438249464382564E071-49502
chr176438267264382757E071-49309
chr176438279064383988E071-48078
chr176438402764384176E071-47890
chr176439181464392158E071-39908
chr176439223964392299E071-39767
chr176439392464394120E071-37946
chr176439422964394382E071-37684
chr176439441964394490E071-37576
chr176439453864394603E071-37463
chr176439465264395031E071-37035
chr176439505164395194E071-36872
chr176440009964400834E071-31232
chr176440118764401237E071-30829
chr176440129064401356E071-30710
chr176440140864401458E071-30608
chr176440154264401693E071-30373
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chr176440185564402548E071-29518
chr176440255564402687E071-29379
chr176440271064402875E071-29191
chr176441247264412714E071-19352
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chr176441927364420413E071-11653
chr176442088664420932E071-11134
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chr176442145164421518E071-10548
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chr176442735764428581E071-3485
chr176442867364428799E071-3267
chr176442880364428863E071-3203
chr176442889864428948E071-3118
chr176442898964429101E071-2965
chr176442928964429628E071-2438
chr176443019164430241E071-1825
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chr176443040364430455E071-1611
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chr176443066764430762E071-1304
chr176443078364430941E071-1125
chr176443104264431086E071-980
chr176443112164431174E071-892
chr176443139364431462E071-604
chr176443238164432460E071315
chr176443246664432521E071400
chr176443259664432705E071530
chr176443279864433109E071732
chr176443391864433968E0711852
chr176443413264434191E0712066
chr176443431064434537E0712244
chr176443586464435946E0713798
chr176443660064436751E0714534
chr176443677964436912E0714713
chr176443705064437123E0714984
chr176443716864437786E0715102
chr176443782864438021E0715762
chr176443802564438112E0715959
chr176443824764438326E0716181
chr176443854464438701E0716478
chr176443883264438882E0716766
chr176443888964438985E0716823
chr176443935864439677E0717292
chr176443976164440017E0717695
chr176444025464440532E0718188
chr176444064664440715E0718580
chr176444071664440766E0718650
chr176444103364441147E0718967
chr176444119264441242E0719126
chr176444624264446387E07114176
chr176444639964446656E07114333
chr176444675964446819E07114693
chr176444684964446919E07114783
chr176444698664447143E07114920
chr176445037464450424E07118308
chr176445103964451102E07118973
chr176445115064451512E07119084
chr176445167364451781E07119607
chr176445570264456437E07123636
chr176445646564456635E07124399
chr176445676564457046E07124699
chr176445726664457316E07125200
chr176445745464457818E07125388
chr176445786364457954E07125797
chr176445797364458489E07125907
chr176445853564458585E07126469
chr176445879064458842E07126724
chr176445896964459468E07126903
chr176446164664461834E07129580
chr176446188864462715E07129822
chr176446285364463618E07130787
chr176446405164464161E07131985
chr176446439564465434E07132329
chr176446556764465661E07133501
chr176446576664466172E07133700
chr176446619064466295E07134124
chr176447084664471422E07138780
chr176448148164481753E07149415
chr176448183464481959E07149768
chr176438279064383988E072-48078
chr176438402764384176E072-47890
chr176438859164388844E072-43222
chr176438900864389127E072-42939
chr176439958064399645E072-32421
chr176440009964400834E072-31232
chr176440118764401237E072-30829
chr176440129064401356E072-30710
chr176440140864401458E072-30608
chr176440154264401693E072-30373
chr176440173764401809E072-30257
chr176440185564402548E072-29518
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