rs7033109

Homo sapiens
C>T
KANK1 : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
C==0248 (7439/29930,GnomAD)
C==0257 (7502/29116,TOPMED)
C==0322 (1612/5008,1000G)
C==0186 (715/3854,ALSPAC)
C==0180 (666/3708,TWINSUK)
chr9:614905 (GRCh38.p7) (9p24.3)
AD
GWASdb2
1   publication(s)
See rs on genome
352 Enhancers around
0 Promoter around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 9NC_000009.12:g.614905C>T
GRCh37.p13 chr 9NC_000009.11:g.614905C>T
KANK1 RefSeqGeneNG_016331.2:g.149612C>T

Gene: KANK1, KN motif and ankyrin repeat domains 1(plus strand)

Molecule type Change Amino acid[Codon] SO Term
KANK1 transcript variant 3NM_001256876.1:c.N/AIntron Variant
KANK1 transcript variant 4NM_001256877.1:c.N/AIntron Variant
KANK1 transcript variant 1NM_015158.3:c.N/AIntron Variant
KANK1 transcript variant 2NM_153186.4:c.N/AGenic Upstream Transcript Variant
KANK1 transcript variant X2XM_005251411.2:c.N/AIntron Variant
KANK1 transcript variant X5XM_011517819.1:c.N/AIntron Variant
KANK1 transcript variant X6XM_011517820.1:c.N/AIntron Variant
KANK1 transcript variant X1XM_017014511.1:c.N/AIntron Variant
KANK1 transcript variant X3XM_017014512.1:c.N/AIntron Variant
KANK1 transcript variant X4XM_017014513.1:c.N/AIntron Variant
KANK1 transcript variant X9XM_017014514.1:c.N/AIntron Variant
KANK1 transcript variant X10XM_017014515.1:c.N/AIntron Variant
KANK1 transcript variant X11XM_017014516.1:c.N/AIntron Variant
KANK1 transcript variant X12XM_017014517.1:c.N/AIntron Variant
KANK1 transcript variant X13XM_017014518.1:c.N/AIntron Variant
KANK1 transcript variant X14XM_017014519.1:c.N/AIntron Variant
KANK1 transcript variant X15XM_017014520.1:c.N/AIntron Variant
KANK1 transcript variant X16XM_017014521.1:c.N/AIntron Variant
KANK1 transcript variant X17XM_017014522.1:c.N/AIntron Variant
KANK1 transcript variant X18XM_017014523.1:c.N/AIntron Variant
KANK1 transcript variant X19XM_017014524.1:c.N/AIntron Variant
KANK1 transcript variant X20XM_017014525.1:c.N/AIntron Variant
KANK1 transcript variant X21XM_017014526.1:c.N/AIntron Variant
KANK1 transcript variant X29XM_017014528.1:c.N/AIntron Variant
KANK1 transcript variant X24XM_005251414.3:c.N/AGenic Upstream Transcript Variant
KANK1 transcript variant X22XM_005251415.2:c.N/AGenic Upstream Transcript Variant
KANK1 transcript variant X26XM_005251416.2:c.N/AGenic Upstream Transcript Variant
KANK1 transcript variant X23XM_005251417.3:c.N/AGenic Upstream Transcript Variant
KANK1 transcript variant X25XM_005251418.2:c.N/AGenic Upstream Transcript Variant
KANK1 transcript variant X27XM_005251419.2:c.N/AGenic Upstream Transcript Variant
KANK1 transcript variant X8XM_006716743.2:c.N/AGenic Upstream Transcript Variant
KANK1 transcript variant X7XM_011517821.1:c.N/AGenic Upstream Transcript Variant
KANK1 transcript variant X28XM_017014527.1:c.N/AGenic Upstream Transcript Variant
KANK1 transcript variant X30XM_017014529.1:c.N/AGenic Upstream Transcript Variant
KANK1 transcript variant X31XM_017014530.1:c.N/AGenic Upstream Transcript Variant
KANK1 transcript variant X32XM_017014531.1:c.N/AGenic Upstream Transcript Variant
KANK1 transcript variant X33XM_017014532.1:c.N/AGenic Upstream Transcript Variant
KANK1 transcript variant X34XM_017014533.1:c.N/AGenic Upstream Transcript Variant
KANK1 transcript variant X35XM_017014534.1:c.N/AGenic Upstream Transcript Variant
KANK1 transcript variant X36XM_017014535.1:c.N/AGenic Upstream Transcript Variant
KANK1 transcript variant X37XM_017014536.1:c.N/AGenic Upstream Transcript Variant
KANK1 transcript variant X38XM_017014537.1:c.N/AGenic Upstream Transcript Variant
KANK1 transcript variant X39XM_017014538.1:c.N/AGenic Upstream Transcript Variant
KANK1 transcript variant X41XM_017014539.1:c.N/AGenic Upstream Transcript Variant
KANK1 transcript variant X42XM_017014540.1:c.N/AGenic Upstream Transcript Variant
KANK1 transcript variant X43XM_017014541.1:c.N/AGenic Upstream Transcript Variant
KANK1 transcript variant X44XM_017014542.1:c.N/AGenic Upstream Transcript Variant
KANK1 transcript variant X40XR_001746257.1:n.N/AIntron Variant
KANK1 transcript variant X45XR_001746258.1:n.N/AGenic Upstream Transcript Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322C=0.312T=0.688
1000GenomesAmericanSub694C=0.300T=0.700
1000GenomesEast AsianSub1008C=0.559T=0.441
1000GenomesEuropeSub1006C=0.210T=0.790
1000GenomesGlobalStudy-wide5008C=0.322T=0.678
1000GenomesSouth AsianSub978C=0.220T=0.780
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854C=0.186T=0.814
The Genome Aggregation DatabaseAfricanSub8698C=0.273T=0.727
The Genome Aggregation DatabaseAmericanSub838C=0.270T=0.730
The Genome Aggregation DatabaseEast AsianSub1618C=0.613T=0.387
The Genome Aggregation DatabaseEuropeSub18474C=0.202T=0.797
The Genome Aggregation DatabaseGlobalStudy-wide29930C=0.248T=0.751
The Genome Aggregation DatabaseOtherSub302C=0.350T=0.650
Trans-Omics for Precision MedicineGlobalStudy-wide29116C=0.257T=0.742
UK 10K study - TwinsTWIN COHORTStudy-wide3708C=0.180T=0.820
PMID Title Author Journal
23743675A meta-analysis of two genome-wide association studies to identify novel loci for maximum number of alcoholic drinks.Kapoor MHum Genet

P-Value

SNP ID p-value Traits Study
rs70331090.00027alcohol consumption23743675

eQTL of rs7033109 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 rs7033109 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 )
chr9569032570658E067-44247
chr9570713570786E067-44119
chr9570925570999E067-43906
chr9571096571215E067-43690
chr9571221571532E067-43373
chr9571582572115E067-42790
chr9572958573162E067-41743
chr9573583574603E067-40302
chr9589168589389E067-25516
chr9589520589584E067-25321
chr9589600590159E067-24746
chr9590160590507E067-24398
chr9591279591734E067-23171
chr9591999592597E067-22308
chr9596434596484E067-18421
chr9611236611286E067-3619
chr9611471611521E067-3384
chr9613610614810E067-95
chr9614921614971E06716
chr9614997615051E06792
chr9625970626215E06711065
chr9626378626418E06711473
chr9626554626692E06711649
chr9626731626962E06711826
chr9627032627454E06712127
chr9649464649952E06734559
chr9650304650836E06735399
chr9650892651134E06735987
chr9651529651665E06736624
chr9652544653408E06737639
chr9653610653690E06738705
chr9653720653818E06738815
chr9655724656365E06740819
chr9656382656488E06741477
chr9656617657549E06741712
chr9570713570786E068-44119
chr9570925570999E068-43906
chr9571096571215E068-43690
chr9571221571532E068-43373
chr9571582572115E068-42790
chr9573583574603E068-40302
chr9574613574653E068-40252
chr9574754574818E068-40087
chr9579663579718E068-35187
chr9589168589389E068-25516
chr9589520589584E068-25321
chr9589600590159E068-24746
chr9590160590507E068-24398
chr9590828590904E068-24001
chr9590966591151E068-23754
chr9591279591734E068-23171
chr9591999592597E068-22308
chr9608530608829E068-6076
chr9608920609108E068-5797
chr9611236611286E068-3619
chr9611471611521E068-3384
chr9615882615993E068977
chr9616662617026E0681757
chr9617361617943E0682456
chr9619108619185E0684203
chr9619431619591E0684526
chr9621214621897E0686309
chr9624987625545E06810082
chr9625570625630E06810665
chr9625687625737E06810782
chr9625760625951E06810855
chr9625970626215E06811065
chr9626378626418E06811473
chr9627032627454E06812127
chr9627620627910E06812715
chr9628077628139E06813172
chr9628176628272E06813271
chr9628389628472E06813484
chr9628480628617E06813575
chr9628640628731E06813735
chr9629215629404E06814310
chr9629442629570E06814537
chr9638055638151E06823150
chr9638197638452E06823292
chr9639026639122E06824121
chr9639186639236E06824281
chr9641365641539E06826460
chr9641793641883E06826888
chr9641977642547E06827072
chr9648430649387E06833525
chr9649464649952E06834559
chr9650304650836E06835399
chr9650892651134E06835987
chr9651529651665E06836624
chr9652544653408E06837639
chr9653610653690E06838705
chr9653720653818E06838815
chr9653929654041E06839024
chr9654174654375E06839269
chr9654561654672E06839656
chr9654773655014E06839868
chr9655724656365E06840819
chr9656382656488E06841477
chr9656617657549E06841712
chr9663607663784E06848702
chr9663874663969E06848969
chr9564910564998E069-49907
chr9567283567458E069-47447
chr9567464567885E069-47020
chr9569032570658E069-44247
chr9570713570786E069-44119
chr9570925570999E069-43906
chr9571096571215E069-43690
chr9571221571532E069-43373
chr9571582572115E069-42790
chr9573583574603E069-40302
chr9588968589039E069-25866
chr9589168589389E069-25516
chr9589520589584E069-25321
chr9589600590159E069-24746
chr9590160590507E069-24398
chr9590828590904E069-24001
chr9590966591151E069-23754
chr9591279591734E069-23171
chr9596434596484E069-18421
chr9608530608829E069-6076
chr9608920609108E069-5797
chr9610709610872E069-4033
chr9610900610999E069-3906
chr9611236611286E069-3619
chr9613610614810E069-95
chr9614921614971E06916
chr9614997615051E06992
chr9619431619591E0694526
chr9621214621897E0696309
chr9624987625545E06910082
chr9625570625630E06910665
chr9625687625737E06910782
chr9625760625951E06910855
chr9625970626215E06911065
chr9626378626418E06911473
chr9626554626692E06911649
chr9626731626962E06911826
chr9627032627454E06912127
chr9627620627910E06912715
chr9628077628139E06913172
chr9628176628272E06913271
chr9628389628472E06913484
chr9628480628617E06913575
chr9628640628731E06913735
chr9629215629404E06914310
chr9630950631064E06916045
chr9649464649952E06934559
chr9650304650836E06935399
chr9650892651134E06935987
chr9651529651665E06936624
chr9653610653690E06938705
chr9653720653818E06938815
chr9653929654041E06939024
chr9654174654375E06939269
chr9655500655658E06940595
chr9655724656365E06940819
chr9656382656488E06941477
chr9656617657549E06941712
chr9663874663969E06948969
chr9564910564998E071-49907
chr9567283567458E071-47447
chr9567464567885E071-47020
chr9570713570786E071-44119
chr9570925570999E071-43906
chr9571096571215E071-43690
chr9571221571532E071-43373
chr9571582572115E071-42790
chr9572190572355E071-42550
chr9572408572499E071-42406
chr9572634572717E071-42188
chr9572958573162E071-41743
chr9573583574603E071-40302
chr9574613574653E071-40252
chr9574754574818E071-40087
chr9574933575460E071-39445
chr9578859578948E071-35957
chr9578963579071E071-35834
chr9588763588891E071-26014
chr9588968589039E071-25866
chr9589168589389E071-25516
chr9589520589584E071-25321
chr9589600590159E071-24746
chr9591279591734E071-23171
chr9591999592597E071-22308
chr9592742592795E071-22110
chr9592890592970E071-21935
chr9596434596484E071-18421
chr9608530608829E071-6076
chr9608920609108E071-5797
chr9610633610683E071-4222
chr9610709610872E071-4033
chr9610900610999E071-3906
chr9613610614810E071-95
chr9614921614971E07116
chr9614997615051E07192
chr9615455615495E071550
chr9615882615993E071977
chr9616662617026E0711757
chr9618535618774E0713630
chr9618781618874E0713876
chr9619108619185E0714203
chr9619431619591E0714526
chr9621214621897E0716309
chr9624857624934E0719952
chr9624987625545E07110082
chr9625570625630E07110665
chr9625687625737E07110782
chr9625760625951E07110855
chr9625970626215E07111065
chr9626378626418E07111473
chr9626554626692E07111649
chr9626731626962E07111826
chr9627032627454E07112127
chr9648430649387E07133525
chr9649464649952E07134559
chr9650304650836E07135399
chr9650892651134E07135987
chr9651529651665E07136624
chr9652544653408E07137639
chr9653610653690E07138705
chr9653720653818E07138815
chr9653929654041E07139024
chr9654174654375E07139269
chr9654561654672E07139656
chr9654773655014E07139868
chr9655027655119E07140122
chr9655724656365E07140819
chr9656382656488E07141477
chr9656617657549E07141712
chr9660865660915E07145960
chr9660943661014E07146038
chr9663607663784E07148702
chr9663874663969E07148969
chr9664039664131E07149134
chr9564910564998E072-49907
chr9569032570658E072-44247
chr9570713570786E072-44119
chr9570925570999E072-43906
chr9571096571215E072-43690
chr9571221571532E072-43373
chr9573583574603E072-40302
chr9574933575460E072-39445
chr9587598587704E072-27201
chr9589168589389E072-25516
chr9589520589584E072-25321
chr9589600590159E072-24746
chr9590160590507E072-24398
chr9591279591734E072-23171
chr9591999592597E072-22308
chr9596434596484E072-18421
chr9608530608829E072-6076
chr9608920609108E072-5797
chr9611236611286E072-3619
chr9613610614810E072-95
chr9619431619591E0724526
chr9624857624934E0729952
chr9624987625545E07210082
chr9625570625630E07210665
chr9625687625737E07210782
chr9625760625951E07210855
chr9625970626215E07211065
chr9626378626418E07211473
chr9626554626692E07211649
chr9626731626962E07211826
chr9627032627454E07212127
chr9627620627910E07212715
chr9637287637489E07222382
chr9649464649952E07234559
chr9650304650836E07235399
chr9650892651134E07235987
chr9651529651665E07236624
chr9652544653408E07237639
chr9653610653690E07238705
chr9653720653818E07238815
chr9653929654041E07239024
chr9654174654375E07239269
chr9663607663784E07248702
chr9663874663969E07248969
chr9573583574603E073-40302
chr9589600590159E073-24746
chr9613610614810E073-95
chr9615882615993E073977
chr9616040616350E0731135
chr9621214621897E0736309
chr9624857624934E0739952
chr9624987625545E07310082
chr9625570625630E07310665
chr9625687625737E07310782
chr9625760625951E07310855
chr9625970626215E07311065
chr9626378626418E07311473
chr9626554626692E07311649
chr9626731626962E07311826
chr9627032627454E07312127
chr9650304650836E07335399
chr9650892651134E07335987
chr9653610653690E07338705
chr9655724656365E07340819
chr9656382656488E07341477
chr9656617657549E07341712
chr9569032570658E074-44247
chr9570713570786E074-44119
chr9570925570999E074-43906
chr9571096571215E074-43690
chr9571221571532E074-43373
chr9572958573162E074-41743
chr9573583574603E074-40302
chr9588968589039E074-25866
chr9589168589389E074-25516
chr9589520589584E074-25321
chr9589600590159E074-24746
chr9590160590507E074-24398
chr9591279591734E074-23171
chr9591999592597E074-22308
chr9596434596484E074-18421
chr9613610614810E074-95
chr9614921614971E07416
chr9614997615051E07492
chr9617361617943E0742456
chr9618781618874E0743876
chr9619108619185E0744203
chr9619431619591E0744526
chr9624857624934E0749952
chr9624987625545E07410082
chr9625570625630E07410665
chr9625687625737E07410782
chr9625760625951E07410855
chr9625970626215E07411065
chr9626378626418E07411473
chr9626554626692E07411649
chr9626731626962E07411826
chr9627032627454E07412127
chr9627620627910E07412715
chr9628077628139E07413172
chr9628176628272E07413271
chr9628389628472E07413484
chr9649464649952E07434559
chr9650304650836E07435399
chr9650892651134E07435987
chr9651529651665E07436624
chr9653610653690E07438705
chr9653720653818E07438815
chr9653929654041E07439024
chr9654174654375E07439269
chr9655724656365E07440819
chr9656382656488E07441477
chr9663607663784E07448702
chr9663874663969E07448969
chr9649464649952E08134559
chr9649464649952E08234559
chr9650304650836E08235399