rs4794814

Homo sapiens
G>A
CDK12 : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
G==0367 (11000/29900,GnomAD)
G==0448 (13055/29118,TOPMED)
G==0360 (1805/5008,1000G)
G==0253 (974/3854,ALSPAC)
G==0261 (967/3708,TWINSUK)
chr17:39540599 (GRCh38.p7) (17q12)
AD
GWASdb2
1   publication(s)
See rs on genome
209 Enhancers around
17 Promoters around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 17NC_000017.11:g.39540599G>A
GRCh37.p13 chr 17NC_000017.10:g.37696852G>A

Gene: CDK12, cyclin-dependent kinase 12(plus strand)

Molecule type Change Amino acid[Codon] SO Term
CDK12 transcript variant 2NM_015083.2:c.N/AGenic Downstream Transcript Variant
CDK12 transcript variant 1NM_016507.3:c.N/AGenic Downstream Transcript Variant
CDK12 transcript variant X3XM_011524893.2:c.N/AIntron Variant
CDK12 transcript variant X4XM_011524894.2:c.N/AIntron Variant
CDK12 transcript variant X5XM_011524895.2:c.N/AIntron Variant
CDK12 transcript variant X6XM_011524896.2:c.N/AIntron Variant
CDK12 transcript variant X8XM_011524897.2:c.N/AIntron Variant
CDK12 transcript variant X9XM_011524898.2:c.N/AIntron Variant
CDK12 transcript variant X10XM_011524899.2:c.N/AIntron Variant
CDK12 transcript variant X13XM_011524900.2:c.N/AIntron Variant
CDK12 transcript variant X14XM_011524901.2:c.N/AIntron Variant
CDK12 transcript variant X11XM_011524902.2:c.N/AIntron Variant
CDK12 transcript variant X12XM_011524903.2:c.N/AIntron Variant
CDK12 transcript variant X18XM_011524905.2:c.N/AIntron Variant
CDK12 transcript variant X19XM_011524906.2:c.N/AIntron Variant
CDK12 transcript variant X20XM_011524907.2:c.N/AIntron Variant
CDK12 transcript variant X7XM_017024744.1:c.N/AIntron Variant
CDK12 transcript variant X8XM_017024745.1:c.N/AIntron Variant
CDK12 transcript variant X12XM_017024746.1:c.N/AIntron Variant
CDK12 transcript variant X15XM_017024747.1:c.N/AIntron Variant
CDK12 transcript variant X16XM_017024748.1:c.N/AIntron Variant
CDK12 transcript variant X17XM_017024749.1:c.N/AIntron Variant
CDK12 transcript variant X21XM_017024750.1:c.N/AIntron Variant
CDK12 transcript variant X22XM_017024751.1:c.N/AIntron Variant
CDK12 transcript variant X23XM_017024752.1:c.N/AIntron Variant
CDK12 transcript variant X26XM_017024753.1:c.N/AIntron Variant
CDK12 transcript variant X1XM_005257456.3:c.N/AGenic Downstream Transcript Variant
CDK12 transcript variant X25XM_005257458.4:c.N/AGenic Downstream Transcript Variant
CDK12 transcript variant X2XM_011524892.2:c.N/AGenic Downstream Transcript Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322G=0.719A=0.281
1000GenomesAmericanSub694G=0.330A=0.670
1000GenomesEast AsianSub1008G=0.262A=0.738
1000GenomesEuropeSub1006G=0.250A=0.750
1000GenomesGlobalStudy-wide5008G=0.360A=0.640
1000GenomesSouth AsianSub978G=0.110A=0.890
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854G=0.253A=0.747
The Genome Aggregation DatabaseAfricanSub8694G=0.667A=0.333
The Genome Aggregation DatabaseAmericanSub836G=0.300A=0.700
The Genome Aggregation DatabaseEast AsianSub1614G=0.304A=0.696
The Genome Aggregation DatabaseEuropeSub18456G=0.236A=0.764
The Genome Aggregation DatabaseGlobalStudy-wide29900G=0.367A=0.632
The Genome Aggregation DatabaseOtherSub300G=0.340A=0.660
Trans-Omics for Precision MedicineGlobalStudy-wide29118G=0.448A=0.551
UK 10K study - TwinsTWIN COHORTStudy-wide3708G=0.261A=0.739
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
rs47948140.000982alcohol dependence20201924

eQTL of rs4794814 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 rs4794814 in Fetal Brain

Probe ID Position Gene beta p-value
cg07936489chr17:37558343FBXL200.01885059980113279.8035e-14
cg15445000chr17:37608096MED1-0.04545176211558271.1448e-11
cg00129232chr17:37814104STARD30.006061364624372924.4652e-10
cg20243544chr17:37824526PNMT-0.01456299949468336.8706e-10
cg07936489chr17:37558343FBXL200.01885069.8000e-14

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 )
chr173768235937682484E067-14368
chr173772848537728767E06731633
chr173772903337729184E06732181
chr173772919337729316E06732341
chr173771735637717425E06820504
chr173771746437717514E06820612
chr173771919737719618E06822345
chr173771979137720096E06822939
chr173772022937720303E06823377
chr173772031737720947E06823465
chr173772542737725737E06828575
chr173772588437726075E06829032
chr173768235937682484E069-14368
chr173771979137720096E06922939
chr173772022937720303E06923377
chr173772031737720947E06923465
chr173772542737725737E06928575
chr173772848537728767E06931633
chr173772903337729184E06932181
chr173772919337729316E06932341
chr173770482037705114E0707968
chr173770513337705247E0708281
chr173770525037705451E0708398
chr173771173137711952E07014879
chr173771245637712574E07015604
chr173771257537712739E07015723
chr173771276337712972E07015911
chr173771307937713129E07016227
chr173771369137713773E07016839
chr173771388737713947E07017035
chr173771397737714039E07017125
chr173771407237714122E07017220
chr173771729037717340E07020438
chr173771735637717425E07020504
chr173771746437717514E07020612
chr173771769737718041E07020845
chr173771862737719124E07021775
chr173772031737720947E07023465
chr173772098037721182E07024128
chr173772121737721328E07024365
chr173772247037722570E07025618
chr173772260637723060E07025754
chr173772347937723574E07026627
chr173772400837724224E07027156
chr173772447337724531E07027621
chr173772542737725737E07028575
chr173772588437726075E07029032
chr173772610937726173E07029257
chr173772631237726378E07029460
chr173772645137726495E07029599
chr173772652637726579E07029674
chr173772659137726666E07029739
chr173772776937727819E07030917
chr173772833137728448E07031479
chr173772848537728767E07031633
chr173772903337729184E07032181
chr173772919337729316E07032341
chr173773209837732189E07035246
chr173773240437732507E07035552
chr173773254437732815E07035692
chr173773293137732981E07036079
chr173773299337733111E07036141
chr173773503337735118E07038181
chr173773523237735323E07038380
chr173773544137735902E07038589
chr173773590737736488E07039055
chr173767354937673764E071-23088
chr173767384937673895E071-22957
chr173768210937682171E071-14681
chr173768235937682484E071-14368
chr173772022937720303E07123377
chr173772031737720947E07123465
chr173768210937682171E072-14681
chr173768235937682484E072-14368
chr173770945437710157E07212602
chr173772542737725737E07228575
chr173772588437726075E07229032
chr173772610937726173E07229257
chr173772631237726378E07229460
chr173772848537728767E07231633
chr173772903337729184E07232181
chr173772919337729316E07232341
chr173768235937682484E073-14368
chr173771919737719618E07322345
chr173771979137720096E07322939
chr173772022937720303E07323377
chr173772031737720947E07323465
chr173772542737725737E07328575
chr173773240437732507E07335552
chr173773254437732815E07335692
chr173773293137732981E07336079
chr173773299337733111E07336141
chr173767354937673764E074-23088
chr173767384937673895E074-22957
chr173768210937682171E074-14681
chr173768235937682484E074-14368
chr173768541437685471E074-11381
chr173768584537685981E074-10871
chr173770392937704658E0817077
chr173770482037705114E0817968
chr173770513337705247E0818281
chr173770525037705451E0818398
chr173770802437708319E08111172
chr173770833137708457E08111479
chr173770857837708660E08111726
chr173771173137711952E08114879
chr173771245637712574E08115604
chr173771257537712739E08115723
chr173771276337712972E08115911
chr173771307937713129E08116227
chr173771369137713773E08116839
chr173771729037717340E08120438
chr173771735637717425E08120504
chr173771746437717514E08120612
chr173771769737718041E08120845
chr173771862737719124E08121775
chr173771919737719618E08122345
chr173771979137720096E08122939
chr173772031737720947E08123465
chr173772098037721182E08124128
chr173772121737721328E08124365
chr173772202537722147E08125173
chr173772247037722570E08125618
chr173772260637723060E08125754
chr173772347937723574E08126627
chr173772400837724224E08127156
chr173772447337724531E08127621
chr173772542737725737E08128575
chr173772588437726075E08129032
chr173772610937726173E08129257
chr173772631237726378E08129460
chr173772645137726495E08129599
chr173772652637726579E08129674
chr173772659137726666E08129739
chr173772776937727819E08130917
chr173772833137728448E08131479
chr173772848537728767E08131633
chr173772903337729184E08132181
chr173772919337729316E08132341
chr173773104237731295E08134190
chr173773133537731409E08134483
chr173773147637731632E08134624
chr173773190537731945E08135053
chr173773209837732189E08135246
chr173773240437732507E08135552
chr173773254437732815E08135692
chr173773293137732981E08136079
chr173773299337733111E08136141
chr173773470637734756E08137854
chr173773503337735118E08138181
chr173773523237735323E08138380
chr173773544137735902E08138589
chr173773590737736488E08139055
chr173773755537737605E08140703
chr173773790737738304E08141055
chr173773833937738389E08141487
chr173773844337738658E08141591
chr173770482037705114E0827968
chr173770903837709111E08212186
chr173770945437710157E08212602
chr173771245637712574E08215604
chr173771257537712739E08215723
chr173771276337712972E08215911
chr173771307937713129E08216227
chr173771441237714462E08217560
chr173771598337716059E08219131
chr173771645937716503E08219607
chr173771689937716949E08220047
chr173771697437717024E08220122
chr173771729037717340E08220438
chr173771735637717425E08220504
chr173771746437717514E08220612
chr173771769737718041E08220845
chr173771862737719124E08221775
chr173771919737719618E08222345
chr173772098037721182E08224128
chr173772121737721328E08224365
chr173772202537722147E08225173
chr173772247037722570E08225618
chr173772260637723060E08225754
chr173772347937723574E08226627
chr173772400837724224E08227156
chr173772447337724531E08227621
chr173772542737725737E08228575
chr173772588437726075E08229032
chr173772610937726173E08229257
chr173772631237726378E08229460
chr173772645137726495E08229599
chr173772652637726579E08229674
chr173772659137726666E08229739
chr173772776937727819E08230917
chr173772833137728448E08231479
chr173773104237731295E08234190
chr173773133537731409E08234483
chr173773147637731632E08234624
chr173773190537731945E08235053
chr173773209837732189E08235246
chr173773240437732507E08235552
chr173773254437732815E08235692
chr173773293137732981E08236079
chr173773299337733111E08236141
chr173773411137734251E08237259
chr173773430037734340E08237448
chr173773434937734454E08237497
chr173773470637734756E08237854
chr173773503337735118E08238181
chr173773523237735323E08238380
chr173773544137735902E08238589
chr173773590737736488E08239055










Promoter Annotation (GRCh37.p13)

Chromosome Start End Region Distance(-/+:Up/Downstream)
chr173772955037729616E06732698
chr173772962137730632E06732769
chr173772955037729616E06832698
chr173772962137730632E06832769
chr173772955037729616E06932698
chr173772962137730632E06932769
chr173772955037729616E07032698
chr173772962137730632E07032769
chr173772955037729616E07132698
chr173772962137730632E07132769
chr173772955037729616E07232698
chr173772962137730632E07232769
chr173772955037729616E07332698
chr173772962137730632E07332769
chr173772962137730632E07432769
chr173772955037729616E08232698
chr173772962137730632E08232769