rs2641970

Homo sapiens
C>T
KANK1 : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
C==0178 (5333/29940,GnomAD)
C==0207 (1035/5008,1000G)
C==0191 (735/3854,ALSPAC)
C==0184 (684/3708,TWINSUK)
chr9:581453 (GRCh38.p7) (9p24.3)
AD
GWASdb2
1   publication(s)
See rs on genome
0 Promoter around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 9NC_000009.12:g.581453C>T
GRCh37.p13 chr 9NC_000009.11:g.581453C>T
KANK1 RefSeqGeneNG_016331.2:g.116160C>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 X4XM_017014513.1:c.N/AIntron Variant
KANK1 transcript variant X10XM_017014515.1:c.N/AIntron Variant
KANK1 transcript variant X13XM_017014518.1:c.N/AIntron Variant
KANK1 transcript variant X15XM_017014520.1: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 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 X3XM_017014512.1:c.N/AGenic Upstream Transcript Variant
KANK1 transcript variant X9XM_017014514.1:c.N/AGenic Upstream Transcript Variant
KANK1 transcript variant X11XM_017014516.1:c.N/AGenic Upstream Transcript Variant
KANK1 transcript variant X12XM_017014517.1:c.N/AGenic Upstream Transcript Variant
KANK1 transcript variant X14XM_017014519.1:c.N/AGenic Upstream Transcript Variant
KANK1 transcript variant X16XM_017014521.1:c.N/AGenic Upstream Transcript Variant
KANK1 transcript variant X19XM_017014524.1:c.N/AGenic Upstream Transcript Variant
KANK1 transcript variant X20XM_017014525.1:c.N/AGenic Upstream Transcript Variant
KANK1 transcript variant X21XM_017014526.1: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/AGenic Upstream Transcript Variant
KANK1 transcript variant X45XR_001746258.1:n.N/AGenic Upstream Transcript Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322C=0.082T=0.918
1000GenomesAmericanSub694C=0.270T=0.730
1000GenomesEast AsianSub1008C=0.332T=0.668
1000GenomesEuropeSub1006C=0.204T=0.796
1000GenomesGlobalStudy-wide5008C=0.207T=0.793
1000GenomesSouth AsianSub978C=0.210T=0.790
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854C=0.191T=0.809
The Genome Aggregation DatabaseAfricanSub8722C=0.107T=0.893
The Genome Aggregation DatabaseAmericanSub838C=0.210T=0.790
The Genome Aggregation DatabaseEast AsianSub1610C=0.332T=0.668
The Genome Aggregation DatabaseEuropeSub18468C=0.194T=0.805
The Genome Aggregation DatabaseGlobalStudy-wide29940C=0.178T=0.821
The Genome Aggregation DatabaseOtherSub302C=0.340T=0.660
UK 10K study - TwinsTWIN COHORTStudy-wide3708C=0.184T=0.816
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
rs26419700.000116alcohol consumption23743675

eQTL of rs2641970 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 rs2641970 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 )
chr9531455531647E067-49806
chr9531769531905E067-49548
chr9531935532183E067-49270
chr9532466532799E067-48654
chr9532810533139E067-48314
chr9533317533523E067-47930
chr9533684533874E067-47579
chr9533985534531E067-46922
chr9534669534943E067-46510
chr9534972535361E067-46092
chr9535463535734E067-45719
chr9535743535849E067-45604
chr9537040537411E067-44042
chr9537498537586E067-43867
chr9537646537700E067-43753
chr9537748537933E067-43520
chr9538059538151E067-43302
chr9538240538389E067-43064
chr9544406544559E067-36894
chr9544637544773E067-36680
chr9544890545079E067-36374
chr9545245545352E067-36101
chr9545536545720E067-35733
chr9545724545829E067-35624
chr9546262547628E067-33825
chr9547741547856E067-33597
chr9547891548104E067-33349
chr9548193548243E067-33210
chr9549261549344E067-32109
chr9558445558593E067-22860
chr9560046560243E067-21210
chr9560348560446E067-21007
chr9560500560550E067-20903
chr9560701560789E067-20664
chr9560845561205E067-20248
chr9561468561924E067-19529
chr9562439562642E067-18811
chr9562912563844E067-17609
chr9563874564064E067-17389
chr9569032570658E067-10795
chr9570713570786E067-10667
chr9570925570999E067-10454
chr9571096571215E067-10238
chr9571221571532E067-9921
chr9571582572115E067-9338
chr9572958573162E067-8291
chr9573583574603E067-6850
chr9589168589389E0677715
chr9589520589584E0678067
chr9589600590159E0678147
chr9590160590507E0678707
chr9591279591734E0679826
chr9591999592597E06710546
chr9596434596484E06714981
chr9611236611286E06729783
chr9611471611521E06730018
chr9613610614810E06732157
chr9614921614971E06733468
chr9614997615051E06733544
chr9625970626215E06744517
chr9626378626418E06744925
chr9626554626692E06745101
chr9626731626962E06745278
chr9627032627454E06745579
chr9531455531647E068-49806
chr9531769531905E068-49548
chr9531935532183E068-49270
chr9532466532799E068-48654
chr9532810533139E068-48314
chr9533317533523E068-47930
chr9533684533874E068-47579
chr9533985534531E068-46922
chr9534669534943E068-46510
chr9534972535361E068-46092
chr9535463535734E068-45719
chr9535743535849E068-45604
chr9536038536078E068-45375
chr9536407536466E068-44987
chr9536679536748E068-44705
chr9536786536914E068-44539
chr9536921537020E068-44433
chr9537040537411E068-44042
chr9537498537586E068-43867
chr9537646537700E068-43753
chr9537748537933E068-43520
chr9544239544289E068-37164
chr9544406544559E068-36894
chr9544637544773E068-36680
chr9544890545079E068-36374
chr9545245545352E068-36101
chr9545536545720E068-35733
chr9545724545829E068-35624
chr9547891548104E068-33349
chr9548193548243E068-33210
chr9548384548463E068-32990
chr9552035552935E068-28518
chr9560845561205E068-20248
chr9561468561924E068-19529
chr9562439562642E068-18811
chr9564319564395E068-17058
chr9564787564837E068-16616
chr9570713570786E068-10667
chr9570925570999E068-10454
chr9571096571215E068-10238
chr9571221571532E068-9921
chr9571582572115E068-9338
chr9573583574603E068-6850
chr9574613574653E068-6800
chr9574754574818E068-6635
chr9579663579718E068-1735
chr9589168589389E0687715
chr9589520589584E0688067
chr9589600590159E0688147
chr9590160590507E0688707
chr9590828590904E0689375
chr9590966591151E0689513
chr9591279591734E0689826
chr9591999592597E06810546
chr9608530608829E06827077
chr9608920609108E06827467
chr9611236611286E06829783
chr9611471611521E06830018
chr9615882615993E06834429
chr9616662617026E06835209
chr9617361617943E06835908
chr9619108619185E06837655
chr9619431619591E06837978
chr9621214621897E06839761
chr9624987625545E06843534
chr9625570625630E06844117
chr9625687625737E06844234
chr9625760625951E06844307
chr9625970626215E06844517
chr9626378626418E06844925
chr9627032627454E06845579
chr9627620627910E06846167
chr9628077628139E06846624
chr9628176628272E06846723
chr9628389628472E06846936
chr9628480628617E06847027
chr9628640628731E06847187
chr9629215629404E06847762
chr9629442629570E06847989
chr9531455531647E069-49806
chr9531769531905E069-49548
chr9531935532183E069-49270
chr9532466532799E069-48654
chr9532810533139E069-48314
chr9533317533523E069-47930
chr9533684533874E069-47579
chr9533985534531E069-46922
chr9534669534943E069-46510
chr9534972535361E069-46092
chr9535743535849E069-45604
chr9536921537020E069-44433
chr9537040537411E069-44042
chr9537498537586E069-43867
chr9537646537700E069-43753
chr9537748537933E069-43520
chr9538059538151E069-43302
chr9538240538389E069-43064
chr9544239544289E069-37164
chr9544406544559E069-36894
chr9544637544773E069-36680
chr9544890545079E069-36374
chr9545245545352E069-36101
chr9545536545720E069-35733
chr9545724545829E069-35624
chr9546262547628E069-33825
chr9547741547856E069-33597
chr9547891548104E069-33349
chr9548193548243E069-33210
chr9549261549344E069-32109
chr9549370550149E069-31304
chr9552035552935E069-28518
chr9560348560446E069-21007
chr9560500560550E069-20903
chr9560701560789E069-20664
chr9560845561205E069-20248
chr9561468561924E069-19529
chr9562439562642E069-18811
chr9562912563844E069-17609
chr9563874564064E069-17389
chr9564319564395E069-17058
chr9564787564837E069-16616
chr9564856564906E069-16547
chr9564910564998E069-16455
chr9567283567458E069-13995
chr9567464567885E069-13568
chr9569032570658E069-10795
chr9570713570786E069-10667
chr9570925570999E069-10454
chr9571096571215E069-10238
chr9571221571532E069-9921
chr9571582572115E069-9338
chr9573583574603E069-6850
chr9588968589039E0697515
chr9589168589389E0697715
chr9589520589584E0698067
chr9589600590159E0698147
chr9590160590507E0698707
chr9590828590904E0699375
chr9590966591151E0699513
chr9591279591734E0699826
chr9596434596484E06914981
chr9608530608829E06927077
chr9608920609108E06927467
chr9610709610872E06929256
chr9610900610999E06929447
chr9611236611286E06929783
chr9613610614810E06932157
chr9614921614971E06933468
chr9614997615051E06933544
chr9619431619591E06937978
chr9621214621897E06939761
chr9624987625545E06943534
chr9625570625630E06944117
chr9625687625737E06944234
chr9625760625951E06944307
chr9625970626215E06944517
chr9626378626418E06944925
chr9626554626692E06945101
chr9626731626962E06945278
chr9627032627454E06945579
chr9627620627910E06946167
chr9628077628139E06946624
chr9628176628272E06946723
chr9628389628472E06946936
chr9628480628617E06947027
chr9628640628731E06947187
chr9629215629404E06947762
chr9630950631064E06949497
chr9534972535361E070-46092
chr9531455531647E071-49806
chr9531769531905E071-49548
chr9531935532183E071-49270
chr9532466532799E071-48654
chr9532810533139E071-48314
chr9533317533523E071-47930
chr9533684533874E071-47579
chr9533985534531E071-46922
chr9535463535734E071-45719
chr9535743535849E071-45604
chr9536038536078E071-45375
chr9536679536748E071-44705
chr9536786536914E071-44539
chr9536921537020E071-44433
chr9537040537411E071-44042
chr9537498537586E071-43867
chr9537646537700E071-43753
chr9537748537933E071-43520
chr9538059538151E071-43302
chr9538240538389E071-43064
chr9544239544289E071-37164
chr9544406544559E071-36894
chr9544637544773E071-36680
chr9544890545079E071-36374
chr9545245545352E071-36101
chr9545536545720E071-35733
chr9545724545829E071-35624
chr9549261549344E071-32109
chr9549370550149E071-31304
chr9551166551357E071-30096
chr9551636551714E071-29739
chr9552035552935E071-28518
chr9553489553539E071-27914
chr9557794558197E071-23256
chr9558445558593E071-22860
chr9559734560039E071-21414
chr9560046560243E071-21210
chr9560348560446E071-21007
chr9560500560550E071-20903
chr9560701560789E071-20664
chr9560845561205E071-20248
chr9561468561924E071-19529
chr9562439562642E071-18811
chr9564787564837E071-16616
chr9564856564906E071-16547
chr9564910564998E071-16455
chr9567283567458E071-13995
chr9567464567885E071-13568
chr9570713570786E071-10667
chr9570925570999E071-10454
chr9571096571215E071-10238
chr9571221571532E071-9921
chr9571582572115E071-9338
chr9572190572355E071-9098
chr9572408572499E071-8954
chr9572634572717E071-8736
chr9572958573162E071-8291
chr9573583574603E071-6850
chr9574613574653E071-6800
chr9574754574818E071-6635
chr9574933575460E071-5993
chr9578859578948E071-2505
chr9578963579071E071-2382
chr9588763588891E0717310
chr9588968589039E0717515
chr9589168589389E0717715
chr9589520589584E0718067
chr9589600590159E0718147
chr9591279591734E0719826
chr9591999592597E07110546
chr9592742592795E07111289
chr9592890592970E07111437
chr9596434596484E07114981
chr9608530608829E07127077
chr9608920609108E07127467
chr9610633610683E07129180
chr9610709610872E07129256
chr9610900610999E07129447
chr9613610614810E07132157
chr9614921614971E07133468
chr9614997615051E07133544
chr9615455615495E07134002
chr9615882615993E07134429
chr9616662617026E07135209
chr9618535618774E07137082
chr9618781618874E07137328
chr9619108619185E07137655
chr9619431619591E07137978
chr9621214621897E07139761
chr9624857624934E07143404
chr9624987625545E07143534
chr9625570625630E07144117
chr9625687625737E07144234
chr9625760625951E07144307
chr9625970626215E07144517
chr9626378626418E07144925
chr9626554626692E07145101
chr9626731626962E07145278
chr9627032627454E07145579
chr9531455531647E072-49806
chr9531769531905E072-49548
chr9531935532183E072-49270
chr9532466532799E072-48654
chr9532810533139E072-48314
chr9533317533523E072-47930
chr9533684533874E072-47579
chr9533985534531E072-46922
chr9534669534943E072-46510
chr9534972535361E072-46092
chr9535463535734E072-45719
chr9535743535849E072-45604
chr9537646537700E072-43753
chr9537748537933E072-43520
chr9538059538151E072-43302
chr9544890545079E072-36374
chr9545245545352E072-36101
chr9545536545720E072-35733
chr9545724545829E072-35624
chr9547891548104E072-33349
chr9549261549344E072-32109
chr9549370550149E072-31304
chr9552035552935E072-28518
chr9560845561205E072-20248
chr9561468561924E072-19529
chr9562439562642E072-18811
chr9562912563844E072-17609
chr9563874564064E072-17389
chr9564319564395E072-17058
chr9564787564837E072-16616
chr9564856564906E072-16547
chr9564910564998E072-16455
chr9569032570658E072-10795
chr9570713570786E072-10667
chr9570925570999E072-10454
chr9571096571215E072-10238
chr9571221571532E072-9921
chr9573583574603E072-6850
chr9574933575460E072-5993
chr9587598587704E0726145
chr9589168589389E0727715
chr9589520589584E0728067
chr9589600590159E0728147
chr9590160590507E0728707
chr9591279591734E0729826
chr9591999592597E07210546
chr9596434596484E07214981
chr9608530608829E07227077
chr9608920609108E07227467
chr9611236611286E07229783
chr9613610614810E07232157
chr9619431619591E07237978
chr9624857624934E07243404
chr9624987625545E07243534
chr9625570625630E07244117
chr9625687625737E07244234
chr9625760625951E07244307
chr9625970626215E07244517
chr9626378626418E07244925
chr9626554626692E07245101
chr9626731626962E07245278
chr9627032627454E07245579
chr9627620627910E07246167
chr9532810533139E073-48314
chr9533317533523E073-47930
chr9533684533874E073-47579
chr9534669534943E073-46510
chr9534972535361E073-46092
chr9535463535734E073-45719
chr9535743535849E073-45604
chr9536921537020E073-44433
chr9537040537411E073-44042
chr9544890545079E073-36374
chr9545245545352E073-36101
chr9545536545720E073-35733
chr9545724545829E073-35624
chr9546262547628E073-33825
chr9573583574603E073-6850
chr9589600590159E0738147
chr9613610614810E07332157
chr9615882615993E07334429
chr9616040616350E07334587
chr9621214621897E07339761
chr9624857624934E07343404
chr9624987625545E07343534
chr9625570625630E07344117
chr9625687625737E07344234
chr9625760625951E07344307
chr9625970626215E07344517
chr9626378626418E07344925
chr9626554626692E07345101
chr9626731626962E07345278
chr9627032627454E07345579
chr9531455531647E074-49806
chr9531769531905E074-49548
chr9531935532183E074-49270
chr9532466532799E074-48654
chr9532810533139E074-48314
chr9533317533523E074-47930
chr9533684533874E074-47579
chr9533985534531E074-46922
chr9534669534943E074-46510
chr9534972535361E074-46092
chr9535463535734E074-45719
chr9535743535849E074-45604
chr9536407536466E074-44987
chr9536679536748E074-44705
chr9536786536914E074-44539
chr9536921537020E074-44433
chr9537040537411E074-44042
chr9537498537586E074-43867
chr9538240538389E074-43064
chr9544239544289E074-37164
chr9544406544559E074-36894
chr9544637544773E074-36680
chr9544890545079E074-36374
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