rs973753

Homo sapiens
C>T
PRKCA : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
C==0251 (7524/29936,GnomAD)
C==0252 (7342/29118,TOPMED)
C==0239 (1198/5008,1000G)
C==0165 (635/3854,ALSPAC)
C==0176 (652/3708,TWINSUK)
chr17:66432564 (GRCh38.p7) (17q24.2)
AD
GWASdb2
1   publication(s)
See rs on genome
0 Promoter around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 17NC_000017.11:g.66432564C>T
GRCh37.p13 chr 17NC_000017.10:g.64428682C>T
PRKCA RefSeqGeneNG_012206.1:g.134757C>T

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
1000GenomesAfricanSub1322C=0.417T=0.583
1000GenomesAmericanSub694C=0.240T=0.760
1000GenomesEast AsianSub1008C=0.218T=0.782
1000GenomesEuropeSub1006C=0.159T=0.841
1000GenomesGlobalStudy-wide5008C=0.239T=0.761
1000GenomesSouth AsianSub978C=0.100T=0.900
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854C=0.165T=0.835
The Genome Aggregation DatabaseAfricanSub8706C=0.383T=0.617
The Genome Aggregation DatabaseAmericanSub838C=0.290T=0.710
The Genome Aggregation DatabaseEast AsianSub1614C=0.250T=0.750
The Genome Aggregation DatabaseEuropeSub18476C=0.189T=0.810
The Genome Aggregation DatabaseGlobalStudy-wide29936C=0.251T=0.748
The Genome Aggregation DatabaseOtherSub302C=0.160T=0.840
Trans-Omics for Precision MedicineGlobalStudy-wide29118C=0.252T=0.747
UK 10K study - TwinsTWIN COHORTStudy-wide3708C=0.176T=0.824
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
rs9737530.0000473alcoholismpha002891
rs9737530.0000473alcohol dependence20201924

eQTL of rs973753 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 rs973753 in Fetal Brain

Probe ID Position Gene beta p-value
There is no meQTL annotation for this SNP

Genomic View

Chromatin Interaction

Enhancer Annotation (GRCh37.p13)

Chromosome Start End Region Distance ( -/+ : Up/Downstream )
chr176437890464378998E067-49684
chr176438279064383988E067-44694
chr176438402764384176E067-44506
chr176438900864389127E067-39555
chr176438929564389420E067-39262
chr176439181464392158E067-36524
chr176440009964400834E067-27848
chr176440118764401237E067-27445
chr176440129064401356E067-27326
chr176440140864401458E067-27224
chr176440154264401693E067-26989
chr176440173764401809E067-26873
chr176440185564402548E067-26134
chr176440255564402687E067-25995
chr176440271064402875E067-25807
chr176441247264412714E067-15968
chr176441927364420413E067-8269
chr176442594964426068E067-2614
chr176442627064426320E067-2362
chr176442652264426562E067-2120
chr176442691364427332E067-1350
chr176442735764428581E067-101
chr176443019164430241E0671509
chr176443027064430354E0671588
chr176443040364430455E0671721
chr176443048364430609E0671801
chr176443279864433109E0674116
chr176443677964436912E0678097
chr176443705064437123E0678368
chr176444563464445925E06716952
chr176444624264446387E06717560
chr176444639964446656E06717717
chr176444675964446819E06718077
chr176444684964446919E06718167
chr176444698664447143E06718304
chr176445037464450424E06721692
chr176445103964451102E06722357
chr176445115064451512E06722468
chr176445167364451781E06722991
chr176445206664452116E06723384
chr176445646564456635E06727783
chr176445676564457046E06728083
chr176445797364458489E06729291
chr176445853564458585E06729853
chr176445879064458842E06730108
chr176445896964459468E06730287
chr176446188864462715E06733206
chr176446285364463618E06734171
chr176446439564465434E06735713
chr176446712464467233E06738442
chr176446730664467425E06738624
chr176446743364467557E06738751
chr176446766964467719E06738987
chr176447084664471422E06742164
chr176447406364474113E06745381
chr176438279064383988E068-44694
chr176438402764384176E068-44506
chr176438422464384299E068-44383
chr176438859164388844E068-39838
chr176438900864389127E068-39555
chr176440009964400834E068-27848
chr176440118764401237E068-27445
chr176440129064401356E068-27326
chr176440140864401458E068-27224
chr176440154264401693E068-26989
chr176440173764401809E068-26873
chr176440185564402548E068-26134
chr176440255564402687E068-25995
chr176441063364412404E068-16278
chr176441247264412714E068-15968
chr176441279064413037E068-15645
chr176441651064416623E068-12059
chr176441673664416910E068-11772
chr176441695164417503E068-11179
chr176441927364420413E068-8269
chr176442088664420932E068-7750
chr176442094064421009E068-7673
chr176442145164421518E068-7164
chr176442220664422342E068-6340
chr176442243964423046E068-5636
chr176442594964426068E068-2614
chr176442652264426562E068-2120
chr176442691364427332E068-1350
chr176442735764428581E068-101
chr176442867364428799E0680
chr176442880364428863E068121
chr176442889864428948E068216
chr176442898964429101E068307
chr176442928964429628E068607
chr176443019164430241E0681509
chr176443027064430354E0681588
chr176443139364431462E0682711
chr176443161664431683E0682934
chr176443210764432147E0683425
chr176443238164432460E0683699
chr176443246664432521E0683784
chr176443259664432705E0683914
chr176443279864433109E0684116
chr176443359664433825E0684914
chr176443391864433968E0685236
chr176443413264434191E0685450
chr176443431064434537E0685628
chr176443660064436751E0687918
chr176443677964436912E0688097
chr176443705064437123E0688368
chr176443716864437786E0688486
chr176443935864439677E06810676
chr176444380964443902E06815127
chr176444399764444051E06815315
chr176445103964451102E06822357
chr176445115064451512E06822468
chr176445167364451781E06822991
chr176445206664452116E06823384
chr176445570264456437E06827020
chr176445646564456635E06827783
chr176445676564457046E06828083
chr176445726664457316E06828584
chr176445745464457818E06828772
chr176445786364457954E06829181
chr176445797364458489E06829291
chr176445853564458585E06829853
chr176445879064458842E06830108
chr176445896964459468E06830287
chr176446164664461834E06832964
chr176446188864462715E06833206
chr176446285364463618E06834171
chr176446405164464161E06835369
chr176446439564465434E06835713
chr176446556764465661E06836885
chr176446576664466172E06837084
chr176446619064466295E06837508
chr176446937964469677E06840697
chr176447004864470779E06841366
chr176447084664471422E06842164
chr176447156764471629E06842885
chr176447288164472982E06844199
chr176447650964476780E06847827
chr176447709064477230E06848408
chr176447736364477443E06848681
chr176447753364477704E06848851
chr176438279064383988E069-44694
chr176438402764384176E069-44506
chr176438422464384299E069-44383
chr176439862764398681E069-30001
chr176439928564399335E069-29347
chr176439958064399645E069-29037
chr176440009964400834E069-27848
chr176440118764401237E069-27445
chr176440129064401356E069-27326
chr176440140864401458E069-27224
chr176440154264401693E069-26989
chr176440173764401809E069-26873
chr176440185564402548E069-26134
chr176440255564402687E069-25995
chr176440271064402875E069-25807
chr176441063364412404E069-16278
chr176441247264412714E069-15968
chr176441279064413037E069-15645
chr176441927364420413E069-8269
chr176442088664420932E069-7750
chr176442094064421009E069-7673
chr176442145164421518E069-7164
chr176442220664422342E069-6340
chr176442594964426068E069-2614
chr176442627064426320E069-2362
chr176442652264426562E069-2120
chr176442691364427332E069-1350
chr176442735764428581E069-101
chr176442867364428799E0690
chr176442880364428863E069121
chr176442889864428948E069216
chr176442898964429101E069307
chr176442928964429628E069607
chr176443019164430241E0691509
chr176443027064430354E0691588
chr176443040364430455E0691721
chr176443048364430609E0691801
chr176443066764430762E0691985
chr176443078364430941E0692101
chr176443104264431086E0692360
chr176443112164431174E0692439
chr176443139364431462E0692711
chr176443238164432460E0693699
chr176443246664432521E0693784
chr176443259664432705E0693914
chr176443279864433109E0694116
chr176443359664433825E0694914
chr176443660064436751E0697918
chr176443677964436912E0698097
chr176443705064437123E0698368
chr176443854464438701E0699862
chr176443883264438882E06910150
chr176443888964438985E06910207
chr176443935864439677E06910676
chr176444136064441538E06912678
chr176444177264441848E06913090
chr176444223064442280E06913548
chr176444268064442902E06913998
chr176444361764443716E06914935
chr176444380964443902E06915127
chr176444399764444051E06915315
chr176444624264446387E06917560
chr176444639964446656E06917717
chr176444675964446819E06918077
chr176444684964446919E06918167
chr176444698664447143E06918304
chr176445103964451102E06922357
chr176445115064451512E06922468
chr176445167364451781E06922991
chr176445206664452116E06923384
chr176445570264456437E06927020
chr176445646564456635E06927783
chr176445676564457046E06928083
chr176445726664457316E06928584
chr176445745464457818E06928772
chr176445786364457954E06929181
chr176445797364458489E06929291
chr176445853564458585E06929853
chr176445879064458842E06930108
chr176445896964459468E06930287
chr176446285364463618E06934171
chr176446405164464161E06935369
chr176446439564465434E06935713
chr176446556764465661E06936885
chr176446576664466172E06937084
chr176446619064466295E06937508
chr176447084664471422E06942164
chr176447156764471629E06942885
chr176438267264382757E070-45925
chr176438279064383988E070-44694
chr176438402764384176E070-44506
chr176438754764387617E070-41065
chr176438773764387787E070-40895
chr176438859164388844E070-39838
chr176438900864389127E070-39555
chr176438929564389420E070-39262
chr176438963964389788E070-38894
chr176439046664390562E070-38120
chr176439062764390677E070-38005
chr176439082964390908E070-37774
chr176439392464394120E070-34562
chr176439422964394382E070-34300
chr176439441964394490E070-34192
chr176439453864394603E070-34079
chr176439465264395031E070-33651
chr176439505164395194E070-33488
chr176439540864395476E070-33206
chr176439551764395916E070-32766
chr176439912264399162E070-29520
chr176439928564399335E070-29347
chr176439958064399645E070-29037
chr176440009964400834E070-27848
chr176440118764401237E070-27445
chr176440129064401356E070-27326
chr176440140864401458E070-27224
chr176440154264401693E070-26989
chr176440173764401809E070-26873
chr176440185564402548E070-26134
chr176440255564402687E070-25995
chr176440271064402875E070-25807
chr176440355264403621E070-25061
chr176440907864409361E070-19321
chr176440957464409683E070-18999
chr176440970464409921E070-18761
chr176441032164410413E070-18269
chr176441050964410602E070-18080
chr176441063364412404E070-16278
chr176441247264412714E070-15968
chr176441279064413037E070-15645
chr176441796264418012E070-10670
chr176441814964418257E070-10425
chr176441828964418671E070-10011
chr176441872964418866E070-9816
chr176441927364420413E070-8269
chr176442088664420932E070-7750
chr176442094064421009E070-7673
chr176442594964426068E070-2614
chr176442627064426320E070-2362
chr176442691364427332E070-1350
chr176442867364428799E0700
chr176442880364428863E070121
chr176442889864428948E070216
chr176442898964429101E070307
chr176442928964429628E070607
chr176443019164430241E0701509
chr176443027064430354E0701588
chr176443040364430455E0701721
chr176443048364430609E0701801
chr176443066764430762E0701985
chr176443078364430941E0702101
chr176443104264431086E0702360
chr176443112164431174E0702439
chr176443139364431462E0702711
chr176443161664431683E0702934
chr176443210764432147E0703425
chr176443238164432460E0703699
chr176443246664432521E0703784
chr176443259664432705E0703914
chr176443279864433109E0704116
chr176443359664433825E0704914
chr176443391864433968E0705236
chr176443413264434191E0705450
chr176443431064434537E0705628
chr176443486764434974E0706185
chr176443586464435946E0707182
chr176443660064436751E0707918
chr176443677964436912E0708097
chr176443935864439677E07010676
chr176443976164440017E07011079
chr176444025464440532E07011572
chr176444064664440715E07011964
chr176444071664440766E07012034
chr176444103364441147E07012351
chr176444119264441242E07012510
chr176444126064441349E07012578
chr176444136064441538E07012678
chr176444177264441848E07013090
chr176444563464445925E07016952
chr176445103964451102E07022357
chr176445115064451512E07022468
chr176445646564456635E07027783
chr176445676564457046E07028083
chr176445745464457818E07028772
chr176445786364457954E07029181
chr176445797364458489E07029291
chr176445853564458585E07029853
chr176445879064458842E07030108
chr176445896964459468E07030287
chr176446439564465434E07035713
chr176446937964469677E07040697
chr176447004864470779E07041366
chr176447084664471422E07042164
chr176447266364472772E07043981
chr176447288164472982E07044199
chr176447638564476446E07047703
chr176447650964476780E07047827
chr176447709064477230E07048408
chr176447736364477443E07048681
chr176447753364477704E07048851
chr176447771164477789E07049029
chr176438221264382367E071-46315
chr176438249464382564E071-46118
chr176438267264382757E071-45925
chr176438279064383988E071-44694
chr176438402764384176E071-44506
chr176439181464392158E071-36524
chr176439223964392299E071-36383
chr176439392464394120E071-34562
chr176439422964394382E071-34300
chr176439441964394490E071-34192
chr176439453864394603E071-34079
chr176439465264395031E071-33651
chr176439505164395194E071-33488
chr176440009964400834E071-27848
chr176440118764401237E071-27445
chr176440129064401356E071-27326
chr176440140864401458E071-27224
chr176440154264401693E071-26989
chr176440173764401809E071-26873
chr176440185564402548E071-26134
chr176440255564402687E071-25995
chr176440271064402875E071-25807
chr176441247264412714E071-15968
chr176441279064413037E071-15645
chr176441927364420413E071-8269
chr176442088664420932E071-7750
chr176442094064421009E071-7673
chr176442145164421518E071-7164
chr176442627064426320E071-2362
chr176442652264426562E071-2120
chr176442691364427332E071-1350
chr176442735764428581E071-101
chr176442867364428799E0710
chr176442880364428863E071121
chr176442889864428948E071216
chr176442898964429101E071307
chr176442928964429628E071607
chr176443019164430241E0711509
chr176443027064430354E0711588
chr176443040364430455E0711721
chr176443048364430609E0711801
chr176443066764430762E0711985
chr176443078364430941E0712101
chr176443104264431086E0712360
chr176443112164431174E0712439
chr176443139364431462E0712711
chr176443238164432460E0713699
chr176443246664432521E0713784
chr176443259664432705E0713914
chr176443279864433109E0714116
chr176443391864433968E0715236
chr176443413264434191E0715450
chr176443431064434537E0715628
chr176443586464435946E0717182
chr176443660064436751E0717918
chr176443677964436912E0718097
chr176443705064437123E0718368
chr176443716864437786E0718486
chr176443782864438021E0719146
chr176443802564438112E0719343
chr176443824764438326E0719565
chr176443854464438701E0719862
chr176443883264438882E07110150
chr176443888964438985E07110207
chr176443935864439677E07110676
chr176443976164440017E07111079
chr176444025464440532E07111572
chr176444064664440715E07111964
chr176444071664440766E07112034
chr176444103364441147E07112351
chr176444119264441242E07112510
chr176444624264446387E07117560
chr176444639964446656E07117717
chr176444675964446819E07118077
chr176444684964446919E07118167
chr176444698664447143E07118304
chr176445037464450424E07121692
chr176445103964451102E07122357
chr176445115064451512E07122468
chr176445167364451781E07122991
chr176445570264456437E07127020
chr176445646564456635E07127783
chr176445676564457046E07128083
chr176445726664457316E07128584
chr176445745464457818E07128772
chr176445786364457954E07129181
chr176445797364458489E07129291
chr176445853564458585E07129853
chr176445879064458842E07130108
chr176445896964459468E07130287
chr176446164664461834E07132964
chr176446188864462715E07133206
chr176446285364463618E07134171
chr176446405164464161E07135369
chr176446439564465434E07135713
chr176446556764465661E07136885
chr176446576664466172E07137084
chr176446619064466295E07137508
chr176447084664471422E07142164
chr176438279064383988E072-44694
chr176438402764384176E072-44506
chr176438859164388844E072-39838
chr176438900864389127E072-39555
chr176439958064399645E072-29037
chr176440009964400834E072-27848
chr176440118764401237E072-27445
chr176440129064401356E072-27326
chr176440140864401458E072-27224
chr176440154264401693E072-26989
chr176440173764401809E072-26873
chr176440185564402548E072-26134
chr176440255564402687E072-25995
chr176440901264409077E072-19605
chr176440907864409361E072-19321
chr176441247264412714E072-15968
chr176441279064413037E072-15645
chr176441343464413855E072-14827
chr176441403664414086E072-14596
chr176441673664416910E072-11772
chr176441695164417503E072-11179
chr176442691364427332E072-1350
chr176442735764428581E072-101
chr176442867364428799E0720
chr176442880364428863E072121
chr176442889864428948E072216
chr176442898964429101E072307
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