rs2641973

Homo sapiens
A>T
KANK1 : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
A==0186 (5585/29882,GnomAD)
A==0183 (5333/29118,TOPMED)
A==0209 (1049/5008,1000G)
A==0209 (805/3854,ALSPAC)
A==0204 (755/3708,TWINSUK)
chr9:580171 (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.580171A>T
GRCh37.p13 chr 9NC_000009.11:g.580171A>T
KANK1 RefSeqGeneNG_016331.2:g.114878A>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
1000GenomesAfricanSub1322A=0.079T=0.921
1000GenomesAmericanSub694A=0.280T=0.720
1000GenomesEast AsianSub1008A=0.333T=0.667
1000GenomesEuropeSub1006A=0.216T=0.784
1000GenomesGlobalStudy-wide5008A=0.209T=0.791
1000GenomesSouth AsianSub978A=0.200T=0.800
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854A=0.209T=0.791
The Genome Aggregation DatabaseAfricanSub8678A=0.107T=0.893
The Genome Aggregation DatabaseAmericanSub836A=0.220T=0.780
The Genome Aggregation DatabaseEast AsianSub1610A=0.334T=0.666
The Genome Aggregation DatabaseEuropeSub18460A=0.207T=0.792
The Genome Aggregation DatabaseGlobalStudy-wide29882A=0.186T=0.813
The Genome Aggregation DatabaseOtherSub298A=0.340T=0.660
Trans-Omics for Precision MedicineGlobalStudy-wide29118A=0.183T=0.816
UK 10K study - TwinsTWIN COHORTStudy-wide3708A=0.204T=0.796
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
rs26419730.000151alcohol consumption23743675

eQTL of rs2641973 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 rs2641973 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 )
chr9531455531647E067-48524
chr9531769531905E067-48266
chr9531935532183E067-47988
chr9532466532799E067-47372
chr9532810533139E067-47032
chr9533317533523E067-46648
chr9533684533874E067-46297
chr9533985534531E067-45640
chr9534669534943E067-45228
chr9534972535361E067-44810
chr9535463535734E067-44437
chr9535743535849E067-44322
chr9537040537411E067-42760
chr9537498537586E067-42585
chr9537646537700E067-42471
chr9537748537933E067-42238
chr9538059538151E067-42020
chr9538240538389E067-41782
chr9544406544559E067-35612
chr9544637544773E067-35398
chr9544890545079E067-35092
chr9545245545352E067-34819
chr9545536545720E067-34451
chr9545724545829E067-34342
chr9546262547628E067-32543
chr9547741547856E067-32315
chr9547891548104E067-32067
chr9548193548243E067-31928
chr9549261549344E067-30827
chr9558445558593E067-21578
chr9560046560243E067-19928
chr9560348560446E067-19725
chr9560500560550E067-19621
chr9560701560789E067-19382
chr9560845561205E067-18966
chr9561468561924E067-18247
chr9562439562642E067-17529
chr9562912563844E067-16327
chr9563874564064E067-16107
chr9569032570658E067-9513
chr9570713570786E067-9385
chr9570925570999E067-9172
chr9571096571215E067-8956
chr9571221571532E067-8639
chr9571582572115E067-8056
chr9572958573162E067-7009
chr9573583574603E067-5568
chr9589168589389E0678997
chr9589520589584E0679349
chr9589600590159E0679429
chr9590160590507E0679989
chr9591279591734E06711108
chr9591999592597E06711828
chr9596434596484E06716263
chr9611236611286E06731065
chr9611471611521E06731300
chr9613610614810E06733439
chr9614921614971E06734750
chr9614997615051E06734826
chr9625970626215E06745799
chr9626378626418E06746207
chr9626554626692E06746383
chr9626731626962E06746560
chr9627032627454E06746861
chr9531088531237E068-48934
chr9531312531362E068-48809
chr9531455531647E068-48524
chr9531769531905E068-48266
chr9531935532183E068-47988
chr9532466532799E068-47372
chr9532810533139E068-47032
chr9533317533523E068-46648
chr9533684533874E068-46297
chr9533985534531E068-45640
chr9534669534943E068-45228
chr9534972535361E068-44810
chr9535463535734E068-44437
chr9535743535849E068-44322
chr9536038536078E068-44093
chr9536407536466E068-43705
chr9536679536748E068-43423
chr9536786536914E068-43257
chr9536921537020E068-43151
chr9537040537411E068-42760
chr9537498537586E068-42585
chr9537646537700E068-42471
chr9537748537933E068-42238
chr9544239544289E068-35882
chr9544406544559E068-35612
chr9544637544773E068-35398
chr9544890545079E068-35092
chr9545245545352E068-34819
chr9545536545720E068-34451
chr9545724545829E068-34342
chr9547891548104E068-32067
chr9548193548243E068-31928
chr9548384548463E068-31708
chr9552035552935E068-27236
chr9560845561205E068-18966
chr9561468561924E068-18247
chr9562439562642E068-17529
chr9564319564395E068-15776
chr9564787564837E068-15334
chr9570713570786E068-9385
chr9570925570999E068-9172
chr9571096571215E068-8956
chr9571221571532E068-8639
chr9571582572115E068-8056
chr9573583574603E068-5568
chr9574613574653E068-5518
chr9574754574818E068-5353
chr9579663579718E068-453
chr9589168589389E0688997
chr9589520589584E0689349
chr9589600590159E0689429
chr9590160590507E0689989
chr9590828590904E06810657
chr9590966591151E06810795
chr9591279591734E06811108
chr9591999592597E06811828
chr9608530608829E06828359
chr9608920609108E06828749
chr9611236611286E06831065
chr9611471611521E06831300
chr9615882615993E06835711
chr9616662617026E06836491
chr9617361617943E06837190
chr9619108619185E06838937
chr9619431619591E06839260
chr9621214621897E06841043
chr9624987625545E06844816
chr9625570625630E06845399
chr9625687625737E06845516
chr9625760625951E06845589
chr9625970626215E06845799
chr9626378626418E06846207
chr9627032627454E06846861
chr9627620627910E06847449
chr9628077628139E06847906
chr9628176628272E06848005
chr9628389628472E06848218
chr9628480628617E06848309
chr9628640628731E06848469
chr9629215629404E06849044
chr9629442629570E06849271
chr9530500530657E069-49514
chr9530714530987E069-49184
chr9531088531237E069-48934
chr9531312531362E069-48809
chr9531455531647E069-48524
chr9531769531905E069-48266
chr9531935532183E069-47988
chr9532466532799E069-47372
chr9532810533139E069-47032
chr9533317533523E069-46648
chr9533684533874E069-46297
chr9533985534531E069-45640
chr9534669534943E069-45228
chr9534972535361E069-44810
chr9535743535849E069-44322
chr9536921537020E069-43151
chr9537040537411E069-42760
chr9537498537586E069-42585
chr9537646537700E069-42471
chr9537748537933E069-42238
chr9538059538151E069-42020
chr9538240538389E069-41782
chr9544239544289E069-35882
chr9544406544559E069-35612
chr9544637544773E069-35398
chr9544890545079E069-35092
chr9545245545352E069-34819
chr9545536545720E069-34451
chr9545724545829E069-34342
chr9546262547628E069-32543
chr9547741547856E069-32315
chr9547891548104E069-32067
chr9548193548243E069-31928
chr9549261549344E069-30827
chr9549370550149E069-30022
chr9552035552935E069-27236
chr9560348560446E069-19725
chr9560500560550E069-19621
chr9560701560789E069-19382
chr9560845561205E069-18966
chr9561468561924E069-18247
chr9562439562642E069-17529
chr9562912563844E069-16327
chr9563874564064E069-16107
chr9564319564395E069-15776
chr9564787564837E069-15334
chr9564856564906E069-15265
chr9564910564998E069-15173
chr9567283567458E069-12713
chr9567464567885E069-12286
chr9569032570658E069-9513
chr9570713570786E069-9385
chr9570925570999E069-9172
chr9571096571215E069-8956
chr9571221571532E069-8639
chr9571582572115E069-8056
chr9573583574603E069-5568
chr9588968589039E0698797
chr9589168589389E0698997
chr9589520589584E0699349
chr9589600590159E0699429
chr9590160590507E0699989
chr9590828590904E06910657
chr9590966591151E06910795
chr9591279591734E06911108
chr9596434596484E06916263
chr9608530608829E06928359
chr9608920609108E06928749
chr9610709610872E06930538
chr9610900610999E06930729
chr9611236611286E06931065
chr9613610614810E06933439
chr9614921614971E06934750
chr9614997615051E06934826
chr9619431619591E06939260
chr9621214621897E06941043
chr9624987625545E06944816
chr9625570625630E06945399
chr9625687625737E06945516
chr9625760625951E06945589
chr9625970626215E06945799
chr9626378626418E06946207
chr9626554626692E06946383
chr9626731626962E06946560
chr9627032627454E06946861
chr9627620627910E06947449
chr9628077628139E06947906
chr9628176628272E06948005
chr9628389628472E06948218
chr9628480628617E06948309
chr9628640628731E06948469
chr9629215629404E06949044
chr9534972535361E070-44810
chr9530500530657E071-49514
chr9530714530987E071-49184
chr9531088531237E071-48934
chr9531312531362E071-48809
chr9531455531647E071-48524
chr9531769531905E071-48266
chr9531935532183E071-47988
chr9532466532799E071-47372
chr9532810533139E071-47032
chr9533317533523E071-46648
chr9533684533874E071-46297
chr9533985534531E071-45640
chr9535463535734E071-44437
chr9535743535849E071-44322
chr9536038536078E071-44093
chr9536679536748E071-43423
chr9536786536914E071-43257
chr9536921537020E071-43151
chr9537040537411E071-42760
chr9537498537586E071-42585
chr9537646537700E071-42471
chr9537748537933E071-42238
chr9538059538151E071-42020
chr9538240538389E071-41782
chr9544239544289E071-35882
chr9544406544559E071-35612
chr9544637544773E071-35398
chr9544890545079E071-35092
chr9545245545352E071-34819
chr9545536545720E071-34451
chr9545724545829E071-34342
chr9549261549344E071-30827
chr9549370550149E071-30022
chr9551166551357E071-28814
chr9551636551714E071-28457
chr9552035552935E071-27236
chr9553489553539E071-26632
chr9557794558197E071-21974
chr9558445558593E071-21578
chr9559734560039E071-20132
chr9560046560243E071-19928
chr9560348560446E071-19725
chr9560500560550E071-19621
chr9560701560789E071-19382
chr9560845561205E071-18966
chr9561468561924E071-18247
chr9562439562642E071-17529
chr9564787564837E071-15334
chr9564856564906E071-15265
chr9564910564998E071-15173
chr9567283567458E071-12713
chr9567464567885E071-12286
chr9570713570786E071-9385
chr9570925570999E071-9172
chr9571096571215E071-8956
chr9571221571532E071-8639
chr9571582572115E071-8056
chr9572190572355E071-7816
chr9572408572499E071-7672
chr9572634572717E071-7454
chr9572958573162E071-7009
chr9573583574603E071-5568
chr9574613574653E071-5518
chr9574754574818E071-5353
chr9574933575460E071-4711
chr9578859578948E071-1223
chr9578963579071E071-1100
chr9588763588891E0718592
chr9588968589039E0718797
chr9589168589389E0718997
chr9589520589584E0719349
chr9589600590159E0719429
chr9591279591734E07111108
chr9591999592597E07111828
chr9592742592795E07112571
chr9592890592970E07112719
chr9596434596484E07116263
chr9608530608829E07128359
chr9608920609108E07128749
chr9610633610683E07130462
chr9610709610872E07130538
chr9610900610999E07130729
chr9613610614810E07133439
chr9614921614971E07134750
chr9614997615051E07134826
chr9615455615495E07135284
chr9615882615993E07135711
chr9616662617026E07136491
chr9618535618774E07138364
chr9618781618874E07138610
chr9619108619185E07138937
chr9619431619591E07139260
chr9621214621897E07141043
chr9624857624934E07144686
chr9624987625545E07144816
chr9625570625630E07145399
chr9625687625737E07145516
chr9625760625951E07145589
chr9625970626215E07145799
chr9626378626418E07146207
chr9626554626692E07146383
chr9626731626962E07146560
chr9627032627454E07146861
chr9530714530987E072-49184
chr9531088531237E072-48934
chr9531312531362E072-48809
chr9531455531647E072-48524
chr9531769531905E072-48266
chr9531935532183E072-47988
chr9532466532799E072-47372
chr9532810533139E072-47032
chr9533317533523E072-46648
chr9533684533874E072-46297
chr9533985534531E072-45640
chr9534669534943E072-45228
chr9534972535361E072-44810
chr9535463535734E072-44437
chr9535743535849E072-44322
chr9537646537700E072-42471
chr9537748537933E072-42238
chr9538059538151E072-42020
chr9544890545079E072-35092
chr9545245545352E072-34819
chr9545536545720E072-34451
chr9545724545829E072-34342
chr9547891548104E072-32067
chr9549261549344E072-30827
chr9549370550149E072-30022
chr9552035552935E072-27236
chr9560845561205E072-18966
chr9561468561924E072-18247
chr9562439562642E072-17529
chr9562912563844E072-16327
chr9563874564064E072-16107
chr9564319564395E072-15776
chr9564787564837E072-15334
chr9564856564906E072-15265
chr9564910564998E072-15173
chr9569032570658E072-9513
chr9570713570786E072-9385
chr9570925570999E072-9172
chr9571096571215E072-8956
chr9571221571532E072-8639
chr9573583574603E072-5568
chr9574933575460E072-4711
chr9587598587704E0727427
chr9589168589389E0728997
chr9589520589584E0729349
chr9589600590159E0729429
chr9590160590507E0729989
chr9591279591734E07211108
chr9591999592597E07211828
chr9596434596484E07216263
chr9608530608829E07228359
chr9608920609108E07228749
chr9611236611286E07231065
chr9613610614810E07233439
chr9619431619591E07239260
chr9624857624934E07244686
chr9624987625545E07244816
chr9625570625630E07245399
chr9625687625737E07245516
chr9625760625951E07245589
chr9625970626215E07245799
chr9626378626418E07246207
chr9626554626692E07246383
chr9626731626962E07246560
chr9627032627454E07246861
chr9627620627910E07247449
chr9532810533139E073-47032
chr9533317533523E073-46648
chr9533684533874E073-46297
chr9534669534943E073-45228
chr9534972535361E073-44810
chr9535463535734E073-44437
chr9535743535849E073-44322
chr9536921537020E073-43151
chr9537040537411E073-42760
chr9544890545079E073-35092
chr9545245545352E073-34819
chr9545536545720E073-34451
chr9545724545829E073-34342
chr9546262547628E073-32543
chr9573583574603E073-5568
chr9589600590159E0739429
chr9613610614810E07333439
chr9615882615993E07335711
chr9616040616350E07335869
chr9621214621897E07341043
chr9624857624934E07344686
chr9624987625545E07344816
chr9625570625630E07345399
chr9625687625737E07345516
chr9625760625951E07345589
chr9625970626215E07345799
chr9626378626418E07346207
chr9626554626692E07346383
chr9626731626962E07346560
chr9627032627454E07346861
chr9531088531237E074-48934
chr9531312531362E074-48809
chr9531455531647E074-48524
chr9531769531905E074-48266
chr9531935532183E074-47988
chr9532466532799E074-47372
chr9532810533139E074-47032
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