rs2804275

Homo sapiens
G>A
KANK1 : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
G==0267 (8007/29920,GnomAD)
G==0286 (8345/29118,TOPMED)
G==0320 (1605/5008,1000G)
G==0214 (826/3854,ALSPAC)
G==0208 (773/3708,TWINSUK)
chr9:580319 (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.580319G>A
GRCh37.p13 chr 9NC_000009.11:g.580319G>A
KANK1 RefSeqGeneNG_016331.2:g.115026G>A

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
1000GenomesAfricanSub1322G=0.303A=0.697
1000GenomesAmericanSub694G=0.310A=0.690
1000GenomesEast AsianSub1008G=0.542A=0.458
1000GenomesEuropeSub1006G=0.226A=0.774
1000GenomesGlobalStudy-wide5008G=0.320A=0.680
1000GenomesSouth AsianSub978G=0.220A=0.780
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854G=0.214A=0.786
The Genome Aggregation DatabaseAfricanSub8700G=0.295A=0.705
The Genome Aggregation DatabaseAmericanSub836G=0.280A=0.720
The Genome Aggregation DatabaseEast AsianSub1606G=0.608A=0.392
The Genome Aggregation DatabaseEuropeSub18476G=0.222A=0.777
The Genome Aggregation DatabaseGlobalStudy-wide29920G=0.267A=0.732
The Genome Aggregation DatabaseOtherSub302G=0.360A=0.640
Trans-Omics for Precision MedicineGlobalStudy-wide29118G=0.286A=0.713
UK 10K study - TwinsTWIN COHORTStudy-wide3708G=0.208A=0.792
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
rs28042750.000149alcohol consumption23743675

eQTL of rs2804275 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 rs2804275 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 )
chr9531455531647E067-48672
chr9531769531905E067-48414
chr9531935532183E067-48136
chr9532466532799E067-47520
chr9532810533139E067-47180
chr9533317533523E067-46796
chr9533684533874E067-46445
chr9533985534531E067-45788
chr9534669534943E067-45376
chr9534972535361E067-44958
chr9535463535734E067-44585
chr9535743535849E067-44470
chr9537040537411E067-42908
chr9537498537586E067-42733
chr9537646537700E067-42619
chr9537748537933E067-42386
chr9538059538151E067-42168
chr9538240538389E067-41930
chr9544406544559E067-35760
chr9544637544773E067-35546
chr9544890545079E067-35240
chr9545245545352E067-34967
chr9545536545720E067-34599
chr9545724545829E067-34490
chr9546262547628E067-32691
chr9547741547856E067-32463
chr9547891548104E067-32215
chr9548193548243E067-32076
chr9549261549344E067-30975
chr9558445558593E067-21726
chr9560046560243E067-20076
chr9560348560446E067-19873
chr9560500560550E067-19769
chr9560701560789E067-19530
chr9560845561205E067-19114
chr9561468561924E067-18395
chr9562439562642E067-17677
chr9562912563844E067-16475
chr9563874564064E067-16255
chr9569032570658E067-9661
chr9570713570786E067-9533
chr9570925570999E067-9320
chr9571096571215E067-9104
chr9571221571532E067-8787
chr9571582572115E067-8204
chr9572958573162E067-7157
chr9573583574603E067-5716
chr9589168589389E0678849
chr9589520589584E0679201
chr9589600590159E0679281
chr9590160590507E0679841
chr9591279591734E06710960
chr9591999592597E06711680
chr9596434596484E06716115
chr9611236611286E06730917
chr9611471611521E06731152
chr9613610614810E06733291
chr9614921614971E06734602
chr9614997615051E06734678
chr9625970626215E06745651
chr9626378626418E06746059
chr9626554626692E06746235
chr9626731626962E06746412
chr9627032627454E06746713
chr9531088531237E068-49082
chr9531312531362E068-48957
chr9531455531647E068-48672
chr9531769531905E068-48414
chr9531935532183E068-48136
chr9532466532799E068-47520
chr9532810533139E068-47180
chr9533317533523E068-46796
chr9533684533874E068-46445
chr9533985534531E068-45788
chr9534669534943E068-45376
chr9534972535361E068-44958
chr9535463535734E068-44585
chr9535743535849E068-44470
chr9536038536078E068-44241
chr9536407536466E068-43853
chr9536679536748E068-43571
chr9536786536914E068-43405
chr9536921537020E068-43299
chr9537040537411E068-42908
chr9537498537586E068-42733
chr9537646537700E068-42619
chr9537748537933E068-42386
chr9544239544289E068-36030
chr9544406544559E068-35760
chr9544637544773E068-35546
chr9544890545079E068-35240
chr9545245545352E068-34967
chr9545536545720E068-34599
chr9545724545829E068-34490
chr9547891548104E068-32215
chr9548193548243E068-32076
chr9548384548463E068-31856
chr9552035552935E068-27384
chr9560845561205E068-19114
chr9561468561924E068-18395
chr9562439562642E068-17677
chr9564319564395E068-15924
chr9564787564837E068-15482
chr9570713570786E068-9533
chr9570925570999E068-9320
chr9571096571215E068-9104
chr9571221571532E068-8787
chr9571582572115E068-8204
chr9573583574603E068-5716
chr9574613574653E068-5666
chr9574754574818E068-5501
chr9579663579718E068-601
chr9589168589389E0688849
chr9589520589584E0689201
chr9589600590159E0689281
chr9590160590507E0689841
chr9590828590904E06810509
chr9590966591151E06810647
chr9591279591734E06810960
chr9591999592597E06811680
chr9608530608829E06828211
chr9608920609108E06828601
chr9611236611286E06830917
chr9611471611521E06831152
chr9615882615993E06835563
chr9616662617026E06836343
chr9617361617943E06837042
chr9619108619185E06838789
chr9619431619591E06839112
chr9621214621897E06840895
chr9624987625545E06844668
chr9625570625630E06845251
chr9625687625737E06845368
chr9625760625951E06845441
chr9625970626215E06845651
chr9626378626418E06846059
chr9627032627454E06846713
chr9627620627910E06847301
chr9628077628139E06847758
chr9628176628272E06847857
chr9628389628472E06848070
chr9628480628617E06848161
chr9628640628731E06848321
chr9629215629404E06848896
chr9629442629570E06849123
chr9530500530657E069-49662
chr9530714530987E069-49332
chr9531088531237E069-49082
chr9531312531362E069-48957
chr9531455531647E069-48672
chr9531769531905E069-48414
chr9531935532183E069-48136
chr9532466532799E069-47520
chr9532810533139E069-47180
chr9533317533523E069-46796
chr9533684533874E069-46445
chr9533985534531E069-45788
chr9534669534943E069-45376
chr9534972535361E069-44958
chr9535743535849E069-44470
chr9536921537020E069-43299
chr9537040537411E069-42908
chr9537498537586E069-42733
chr9537646537700E069-42619
chr9537748537933E069-42386
chr9538059538151E069-42168
chr9538240538389E069-41930
chr9544239544289E069-36030
chr9544406544559E069-35760
chr9544637544773E069-35546
chr9544890545079E069-35240
chr9545245545352E069-34967
chr9545536545720E069-34599
chr9545724545829E069-34490
chr9546262547628E069-32691
chr9547741547856E069-32463
chr9547891548104E069-32215
chr9548193548243E069-32076
chr9549261549344E069-30975
chr9549370550149E069-30170
chr9552035552935E069-27384
chr9560348560446E069-19873
chr9560500560550E069-19769
chr9560701560789E069-19530
chr9560845561205E069-19114
chr9561468561924E069-18395
chr9562439562642E069-17677
chr9562912563844E069-16475
chr9563874564064E069-16255
chr9564319564395E069-15924
chr9564787564837E069-15482
chr9564856564906E069-15413
chr9564910564998E069-15321
chr9567283567458E069-12861
chr9567464567885E069-12434
chr9569032570658E069-9661
chr9570713570786E069-9533
chr9570925570999E069-9320
chr9571096571215E069-9104
chr9571221571532E069-8787
chr9571582572115E069-8204
chr9573583574603E069-5716
chr9588968589039E0698649
chr9589168589389E0698849
chr9589520589584E0699201
chr9589600590159E0699281
chr9590160590507E0699841
chr9590828590904E06910509
chr9590966591151E06910647
chr9591279591734E06910960
chr9596434596484E06916115
chr9608530608829E06928211
chr9608920609108E06928601
chr9610709610872E06930390
chr9610900610999E06930581
chr9611236611286E06930917
chr9613610614810E06933291
chr9614921614971E06934602
chr9614997615051E06934678
chr9619431619591E06939112
chr9621214621897E06940895
chr9624987625545E06944668
chr9625570625630E06945251
chr9625687625737E06945368
chr9625760625951E06945441
chr9625970626215E06945651
chr9626378626418E06946059
chr9626554626692E06946235
chr9626731626962E06946412
chr9627032627454E06946713
chr9627620627910E06947301
chr9628077628139E06947758
chr9628176628272E06947857
chr9628389628472E06948070
chr9628480628617E06948161
chr9628640628731E06948321
chr9629215629404E06948896
chr9534972535361E070-44958
chr9530500530657E071-49662
chr9530714530987E071-49332
chr9531088531237E071-49082
chr9531312531362E071-48957
chr9531455531647E071-48672
chr9531769531905E071-48414
chr9531935532183E071-48136
chr9532466532799E071-47520
chr9532810533139E071-47180
chr9533317533523E071-46796
chr9533684533874E071-46445
chr9533985534531E071-45788
chr9535463535734E071-44585
chr9535743535849E071-44470
chr9536038536078E071-44241
chr9536679536748E071-43571
chr9536786536914E071-43405
chr9536921537020E071-43299
chr9537040537411E071-42908
chr9537498537586E071-42733
chr9537646537700E071-42619
chr9537748537933E071-42386
chr9538059538151E071-42168
chr9538240538389E071-41930
chr9544239544289E071-36030
chr9544406544559E071-35760
chr9544637544773E071-35546
chr9544890545079E071-35240
chr9545245545352E071-34967
chr9545536545720E071-34599
chr9545724545829E071-34490
chr9549261549344E071-30975
chr9549370550149E071-30170
chr9551166551357E071-28962
chr9551636551714E071-28605
chr9552035552935E071-27384
chr9553489553539E071-26780
chr9557794558197E071-22122
chr9558445558593E071-21726
chr9559734560039E071-20280
chr9560046560243E071-20076
chr9560348560446E071-19873
chr9560500560550E071-19769
chr9560701560789E071-19530
chr9560845561205E071-19114
chr9561468561924E071-18395
chr9562439562642E071-17677
chr9564787564837E071-15482
chr9564856564906E071-15413
chr9564910564998E071-15321
chr9567283567458E071-12861
chr9567464567885E071-12434
chr9570713570786E071-9533
chr9570925570999E071-9320
chr9571096571215E071-9104
chr9571221571532E071-8787
chr9571582572115E071-8204
chr9572190572355E071-7964
chr9572408572499E071-7820
chr9572634572717E071-7602
chr9572958573162E071-7157
chr9573583574603E071-5716
chr9574613574653E071-5666
chr9574754574818E071-5501
chr9574933575460E071-4859
chr9578859578948E071-1371
chr9578963579071E071-1248
chr9588763588891E0718444
chr9588968589039E0718649
chr9589168589389E0718849
chr9589520589584E0719201
chr9589600590159E0719281
chr9591279591734E07110960
chr9591999592597E07111680
chr9592742592795E07112423
chr9592890592970E07112571
chr9596434596484E07116115
chr9608530608829E07128211
chr9608920609108E07128601
chr9610633610683E07130314
chr9610709610872E07130390
chr9610900610999E07130581
chr9613610614810E07133291
chr9614921614971E07134602
chr9614997615051E07134678
chr9615455615495E07135136
chr9615882615993E07135563
chr9616662617026E07136343
chr9618535618774E07138216
chr9618781618874E07138462
chr9619108619185E07138789
chr9619431619591E07139112
chr9621214621897E07140895
chr9624857624934E07144538
chr9624987625545E07144668
chr9625570625630E07145251
chr9625687625737E07145368
chr9625760625951E07145441
chr9625970626215E07145651
chr9626378626418E07146059
chr9626554626692E07146235
chr9626731626962E07146412
chr9627032627454E07146713
chr9530714530987E072-49332
chr9531088531237E072-49082
chr9531312531362E072-48957
chr9531455531647E072-48672
chr9531769531905E072-48414
chr9531935532183E072-48136
chr9532466532799E072-47520
chr9532810533139E072-47180
chr9533317533523E072-46796
chr9533684533874E072-46445
chr9533985534531E072-45788
chr9534669534943E072-45376
chr9534972535361E072-44958
chr9535463535734E072-44585
chr9535743535849E072-44470
chr9537646537700E072-42619
chr9537748537933E072-42386
chr9538059538151E072-42168
chr9544890545079E072-35240
chr9545245545352E072-34967
chr9545536545720E072-34599
chr9545724545829E072-34490
chr9547891548104E072-32215
chr9549261549344E072-30975
chr9549370550149E072-30170
chr9552035552935E072-27384
chr9560845561205E072-19114
chr9561468561924E072-18395
chr9562439562642E072-17677
chr9562912563844E072-16475
chr9563874564064E072-16255
chr9564319564395E072-15924
chr9564787564837E072-15482
chr9564856564906E072-15413
chr9564910564998E072-15321
chr9569032570658E072-9661
chr9570713570786E072-9533
chr9570925570999E072-9320
chr9571096571215E072-9104
chr9571221571532E072-8787
chr9573583574603E072-5716
chr9574933575460E072-4859
chr9587598587704E0727279
chr9589168589389E0728849
chr9589520589584E0729201
chr9589600590159E0729281
chr9590160590507E0729841
chr9591279591734E07210960
chr9591999592597E07211680
chr9596434596484E07216115
chr9608530608829E07228211
chr9608920609108E07228601
chr9611236611286E07230917
chr9613610614810E07233291
chr9619431619591E07239112
chr9624857624934E07244538
chr9624987625545E07244668
chr9625570625630E07245251
chr9625687625737E07245368
chr9625760625951E07245441
chr9625970626215E07245651
chr9626378626418E07246059
chr9626554626692E07246235
chr9626731626962E07246412
chr9627032627454E07246713
chr9627620627910E07247301
chr9532810533139E073-47180
chr9533317533523E073-46796
chr9533684533874E073-46445
chr9534669534943E073-45376
chr9534972535361E073-44958
chr9535463535734E073-44585
chr9535743535849E073-44470
chr9536921537020E073-43299
chr9537040537411E073-42908
chr9544890545079E073-35240
chr9545245545352E073-34967
chr9545536545720E073-34599
chr9545724545829E073-34490
chr9546262547628E073-32691
chr9573583574603E073-5716
chr9589600590159E0739281
chr9613610614810E07333291
chr9615882615993E07335563
chr9616040616350E07335721
chr9621214621897E07340895
chr9624857624934E07344538
chr9624987625545E07344668
chr9625570625630E07345251
chr9625687625737E07345368
chr9625760625951E07345441
chr9625970626215E07345651
chr9626378626418E07346059
chr9626554626692E07346235
chr9626731626962E07346412
chr9627032627454E07346713
chr9531088531237E074-49082
chr9531312531362E074-48957
chr9531455531647E074-48672
chr9531769531905E074-48414
chr9531935532183E074-48136
chr9532466532799E074-47520
chr9532810533139E074-47180
chr9533317533523E074-46796
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