rs2641997

Organism: Homo sapiens

Alleles: G>T

Gene : Feature

KANK1 : Intron Variant

p-value: Check p-value

Variation Type: SNV (Single Nucleotide Variation)

Frequency:

G==0170 (5077/29836,GnomAD)
G==0197 (988/5008,1000G)
G==0189 (727/3854,ALSPAC)
G==0186 (691/3708,TWINSUK)

Position: chr9:594697 (GRCh38.p7) (9p24.3)

Phenotype: AD

Dataset:

GWASdb2

Publications: 1 publication(s)

Genomic View: See rs on genome

Enhancer: 369 Enhancers around

Promoter: 0 Promoter around

Variant Details Frequency Publications p-values eSNP meSNP

Genomic Coordinates

Sequence Name	Change(s)
GRCh38.p7 chr 9	NC_000009.12:g.594697G>T
GRCh37.p13 chr 9	NC_000009.11:g.594697G>T
KANK1 RefSeqGene	NG_016331.2:g.129404G>T

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

Molecule type	Change	Amino acid[Codon]	SO Term
KANK1 transcript variant 3	NM_001256876.1:c.	N/A	Intron Variant
KANK1 transcript variant 4	NM_001256877.1:c.	N/A	Intron Variant
KANK1 transcript variant 1	NM_015158.3:c.	N/A	Intron Variant
KANK1 transcript variant 2	NM_153186.4:c.	N/A	Genic Upstream Transcript Variant
KANK1 transcript variant X2	XM_005251411.2:c.	N/A	Intron Variant
KANK1 transcript variant X5	XM_011517819.1:c.	N/A	Intron Variant
KANK1 transcript variant X6	XM_011517820.1:c.	N/A	Intron Variant
KANK1 transcript variant X1	XM_017014511.1:c.	N/A	Intron Variant
KANK1 transcript variant X4	XM_017014513.1:c.	N/A	Intron Variant
KANK1 transcript variant X9	XM_017014514.1:c.	N/A	Intron Variant
KANK1 transcript variant X10	XM_017014515.1:c.	N/A	Intron Variant
KANK1 transcript variant X11	XM_017014516.1:c.	N/A	Intron Variant
KANK1 transcript variant X12	XM_017014517.1:c.	N/A	Intron Variant
KANK1 transcript variant X13	XM_017014518.1:c.	N/A	Intron Variant
KANK1 transcript variant X14	XM_017014519.1:c.	N/A	Intron Variant
KANK1 transcript variant X15	XM_017014520.1:c.	N/A	Intron Variant
KANK1 transcript variant X16	XM_017014521.1:c.	N/A	Intron Variant
KANK1 transcript variant X17	XM_017014522.1:c.	N/A	Intron Variant
KANK1 transcript variant X18	XM_017014523.1:c.	N/A	Intron Variant
KANK1 transcript variant X19	XM_017014524.1:c.	N/A	Intron Variant
KANK1 transcript variant X20	XM_017014525.1:c.	N/A	Intron Variant
KANK1 transcript variant X21	XM_017014526.1:c.	N/A	Intron Variant
KANK1 transcript variant X29	XM_017014528.1:c.	N/A	Intron Variant
KANK1 transcript variant X24	XM_005251414.3:c.	N/A	Genic Upstream Transcript Variant
KANK1 transcript variant X22	XM_005251415.2:c.	N/A	Genic Upstream Transcript Variant
KANK1 transcript variant X26	XM_005251416.2:c.	N/A	Genic Upstream Transcript Variant
KANK1 transcript variant X23	XM_005251417.3:c.	N/A	Genic Upstream Transcript Variant
KANK1 transcript variant X25	XM_005251418.2:c.	N/A	Genic Upstream Transcript Variant
KANK1 transcript variant X27	XM_005251419.2:c.	N/A	Genic Upstream Transcript Variant
KANK1 transcript variant X8	XM_006716743.2:c.	N/A	Genic Upstream Transcript Variant
KANK1 transcript variant X7	XM_011517821.1:c.	N/A	Genic Upstream Transcript Variant
KANK1 transcript variant X3	XM_017014512.1:c.	N/A	Genic Upstream Transcript Variant
KANK1 transcript variant X28	XM_017014527.1:c.	N/A	Genic Upstream Transcript Variant
KANK1 transcript variant X30	XM_017014529.1:c.	N/A	Genic Upstream Transcript Variant
KANK1 transcript variant X31	XM_017014530.1:c.	N/A	Genic Upstream Transcript Variant
KANK1 transcript variant X32	XM_017014531.1:c.	N/A	Genic Upstream Transcript Variant
KANK1 transcript variant X33	XM_017014532.1:c.	N/A	Genic Upstream Transcript Variant
KANK1 transcript variant X34	XM_017014533.1:c.	N/A	Genic Upstream Transcript Variant
KANK1 transcript variant X35	XM_017014534.1:c.	N/A	Genic Upstream Transcript Variant
KANK1 transcript variant X36	XM_017014535.1:c.	N/A	Genic Upstream Transcript Variant
KANK1 transcript variant X37	XM_017014536.1:c.	N/A	Genic Upstream Transcript Variant
KANK1 transcript variant X38	XM_017014537.1:c.	N/A	Genic Upstream Transcript Variant
KANK1 transcript variant X39	XM_017014538.1:c.	N/A	Genic Upstream Transcript Variant
KANK1 transcript variant X41	XM_017014539.1:c.	N/A	Genic Upstream Transcript Variant
KANK1 transcript variant X42	XM_017014540.1:c.	N/A	Genic Upstream Transcript Variant
KANK1 transcript variant X43	XM_017014541.1:c.	N/A	Genic Upstream Transcript Variant
KANK1 transcript variant X44	XM_017014542.1:c.	N/A	Genic Upstream Transcript Variant
KANK1 transcript variant X40	XR_001746257.1:n.	N/A	Intron Variant
KANK1 transcript variant X45	XR_001746258.1:n.	N/A	Genic Upstream Transcript Variant

Population Frequency

Study	Population	Group	Sample #	Ref Allele	Alt Allele
1000Genomes	African	Sub	1322	G=0.068	T=0.932
1000Genomes	American	Sub	694	G=0.270	T=0.730
1000Genomes	East Asian	Sub	1008	G=0.312	T=0.688
1000Genomes	Europe	Sub	1006	G=0.205	T=0.795
1000Genomes	Global	Study-wide	5008	G=0.197	T=0.803
1000Genomes	South Asian	Sub	978	G=0.200	T=0.800
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	G=0.189	T=0.811
The Genome Aggregation Database	African	Sub	8644	G=0.082	T=0.918
The Genome Aggregation Database	American	Sub	836	G=0.210	T=0.790
The Genome Aggregation Database	East Asian	Sub	1618	G=0.313	T=0.687
The Genome Aggregation Database	Europe	Sub	18436	G=0.194	T=0.805
The Genome Aggregation Database	Global	Study-wide	29836	G=0.170	T=0.829
The Genome Aggregation Database	Other	Sub	302	G=0.340	T=0.660
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	G=0.186	T=0.814

PMID	Title	Author	Journal
23743675	A meta-analysis of two genome-wide association studies to identify novel loci for maximum number of alcoholic drinks.	Kapoor M	Hum Genet

P-Value

SNP ID	p-value	Traits	Study
rs2641997	6.69E-05	alcohol consumption	23743675

eQTL of rs2641997 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 rs2641997 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 )
chr9	544890	545079	E067	-49618
chr9	545245	545352	E067	-49345
chr9	545536	545720	E067	-48977
chr9	545724	545829	E067	-48868
chr9	546262	547628	E067	-47069
chr9	547741	547856	E067	-46841
chr9	547891	548104	E067	-46593
chr9	548193	548243	E067	-46454
chr9	549261	549344	E067	-45353
chr9	558445	558593	E067	-36104
chr9	560046	560243	E067	-34454
chr9	560348	560446	E067	-34251
chr9	560500	560550	E067	-34147
chr9	560701	560789	E067	-33908
chr9	560845	561205	E067	-33492
chr9	561468	561924	E067	-32773
chr9	562439	562642	E067	-32055
chr9	562912	563844	E067	-30853
chr9	563874	564064	E067	-30633
chr9	569032	570658	E067	-24039
chr9	570713	570786	E067	-23911
chr9	570925	570999	E067	-23698
chr9	571096	571215	E067	-23482
chr9	571221	571532	E067	-23165
chr9	571582	572115	E067	-22582
chr9	572958	573162	E067	-21535
chr9	573583	574603	E067	-20094
chr9	589168	589389	E067	-5308
chr9	589520	589584	E067	-5113
chr9	589600	590159	E067	-4538
chr9	590160	590507	E067	-4190
chr9	591279	591734	E067	-2963
chr9	591999	592597	E067	-2100
chr9	596434	596484	E067	1737
chr9	611236	611286	E067	16539
chr9	611471	611521	E067	16774
chr9	613610	614810	E067	18913
chr9	614921	614971	E067	20224
chr9	614997	615051	E067	20300
chr9	625970	626215	E067	31273
chr9	626378	626418	E067	31681
chr9	626554	626692	E067	31857
chr9	626731	626962	E067	32034
chr9	627032	627454	E067	32335
chr9	544890	545079	E068	-49618
chr9	545245	545352	E068	-49345
chr9	545536	545720	E068	-48977
chr9	545724	545829	E068	-48868
chr9	547891	548104	E068	-46593
chr9	548193	548243	E068	-46454
chr9	548384	548463	E068	-46234
chr9	552035	552935	E068	-41762
chr9	560845	561205	E068	-33492
chr9	561468	561924	E068	-32773
chr9	562439	562642	E068	-32055
chr9	564319	564395	E068	-30302
chr9	564787	564837	E068	-29860
chr9	570713	570786	E068	-23911
chr9	570925	570999	E068	-23698
chr9	571096	571215	E068	-23482
chr9	571221	571532	E068	-23165
chr9	571582	572115	E068	-22582
chr9	573583	574603	E068	-20094
chr9	574613	574653	E068	-20044
chr9	574754	574818	E068	-19879
chr9	579663	579718	E068	-14979
chr9	589168	589389	E068	-5308
chr9	589520	589584	E068	-5113
chr9	589600	590159	E068	-4538
chr9	590160	590507	E068	-4190
chr9	590828	590904	E068	-3793
chr9	590966	591151	E068	-3546
chr9	591279	591734	E068	-2963
chr9	591999	592597	E068	-2100
chr9	608530	608829	E068	13833
chr9	608920	609108	E068	14223
chr9	611236	611286	E068	16539
chr9	611471	611521	E068	16774
chr9	615882	615993	E068	21185
chr9	616662	617026	E068	21965
chr9	617361	617943	E068	22664
chr9	619108	619185	E068	24411
chr9	619431	619591	E068	24734
chr9	621214	621897	E068	26517
chr9	624987	625545	E068	30290
chr9	625570	625630	E068	30873
chr9	625687	625737	E068	30990
chr9	625760	625951	E068	31063
chr9	625970	626215	E068	31273
chr9	626378	626418	E068	31681
chr9	627032	627454	E068	32335
chr9	627620	627910	E068	32923
chr9	628077	628139	E068	33380
chr9	628176	628272	E068	33479
chr9	628389	628472	E068	33692
chr9	628480	628617	E068	33783
chr9	628640	628731	E068	33943
chr9	629215	629404	E068	34518
chr9	629442	629570	E068	34745
chr9	638055	638151	E068	43358
chr9	638197	638452	E068	43500
chr9	639026	639122	E068	44329
chr9	639186	639236	E068	44489
chr9	641365	641539	E068	46668
chr9	641793	641883	E068	47096
chr9	641977	642547	E068	47280
chr9	544890	545079	E069	-49618
chr9	545245	545352	E069	-49345
chr9	545536	545720	E069	-48977
chr9	545724	545829	E069	-48868
chr9	546262	547628	E069	-47069
chr9	547741	547856	E069	-46841
chr9	547891	548104	E069	-46593
chr9	548193	548243	E069	-46454
chr9	549261	549344	E069	-45353
chr9	549370	550149	E069	-44548
chr9	552035	552935	E069	-41762
chr9	560348	560446	E069	-34251
chr9	560500	560550	E069	-34147
chr9	560701	560789	E069	-33908
chr9	560845	561205	E069	-33492
chr9	561468	561924	E069	-32773
chr9	562439	562642	E069	-32055
chr9	562912	563844	E069	-30853
chr9	563874	564064	E069	-30633
chr9	564319	564395	E069	-30302
chr9	564787	564837	E069	-29860
chr9	564856	564906	E069	-29791
chr9	564910	564998	E069	-29699
chr9	567283	567458	E069	-27239
chr9	567464	567885	E069	-26812
chr9	569032	570658	E069	-24039
chr9	570713	570786	E069	-23911
chr9	570925	570999	E069	-23698
chr9	571096	571215	E069	-23482
chr9	571221	571532	E069	-23165
chr9	571582	572115	E069	-22582
chr9	573583	574603	E069	-20094
chr9	588968	589039	E069	-5658
chr9	589168	589389	E069	-5308
chr9	589520	589584	E069	-5113
chr9	589600	590159	E069	-4538
chr9	590160	590507	E069	-4190
chr9	590828	590904	E069	-3793
chr9	590966	591151	E069	-3546
chr9	591279	591734	E069	-2963
chr9	596434	596484	E069	1737
chr9	608530	608829	E069	13833
chr9	608920	609108	E069	14223
chr9	610709	610872	E069	16012
chr9	610900	610999	E069	16203
chr9	611236	611286	E069	16539
chr9	613610	614810	E069	18913
chr9	614921	614971	E069	20224
chr9	614997	615051	E069	20300
chr9	619431	619591	E069	24734
chr9	621214	621897	E069	26517
chr9	624987	625545	E069	30290
chr9	625570	625630	E069	30873
chr9	625687	625737	E069	30990
chr9	625760	625951	E069	31063
chr9	625970	626215	E069	31273
chr9	626378	626418	E069	31681
chr9	626554	626692	E069	31857
chr9	626731	626962	E069	32034
chr9	627032	627454	E069	32335
chr9	627620	627910	E069	32923
chr9	628077	628139	E069	33380
chr9	628176	628272	E069	33479
chr9	628389	628472	E069	33692
chr9	628480	628617	E069	33783
chr9	628640	628731	E069	33943
chr9	629215	629404	E069	34518
chr9	630950	631064	E069	36253
chr9	544890	545079	E071	-49618
chr9	545245	545352	E071	-49345
chr9	545536	545720	E071	-48977
chr9	545724	545829	E071	-48868
chr9	549261	549344	E071	-45353
chr9	549370	550149	E071	-44548
chr9	551166	551357	E071	-43340
chr9	551636	551714	E071	-42983
chr9	552035	552935	E071	-41762
chr9	553489	553539	E071	-41158
chr9	557794	558197	E071	-36500
chr9	558445	558593	E071	-36104
chr9	559734	560039	E071	-34658
chr9	560046	560243	E071	-34454
chr9	560348	560446	E071	-34251
chr9	560500	560550	E071	-34147
chr9	560701	560789	E071	-33908
chr9	560845	561205	E071	-33492
chr9	561468	561924	E071	-32773
chr9	562439	562642	E071	-32055
chr9	564787	564837	E071	-29860
chr9	564856	564906	E071	-29791
chr9	564910	564998	E071	-29699
chr9	567283	567458	E071	-27239
chr9	567464	567885	E071	-26812
chr9	570713	570786	E071	-23911
chr9	570925	570999	E071	-23698
chr9	571096	571215	E071	-23482
chr9	571221	571532	E071	-23165
chr9	571582	572115	E071	-22582
chr9	572190	572355	E071	-22342
chr9	572408	572499	E071	-22198
chr9	572634	572717	E071	-21980
chr9	572958	573162	E071	-21535
chr9	573583	574603	E071	-20094
chr9	574613	574653	E071	-20044
chr9	574754	574818	E071	-19879
chr9	574933	575460	E071	-19237
chr9	578859	578948	E071	-15749
chr9	578963	579071	E071	-15626
chr9	588763	588891	E071	-5806
chr9	588968	589039	E071	-5658
chr9	589168	589389	E071	-5308
chr9	589520	589584	E071	-5113
chr9	589600	590159	E071	-4538
chr9	591279	591734	E071	-2963
chr9	591999	592597	E071	-2100
chr9	592742	592795	E071	-1902
chr9	592890	592970	E071	-1727
chr9	596434	596484	E071	1737
chr9	608530	608829	E071	13833
chr9	608920	609108	E071	14223
chr9	610633	610683	E071	15936
chr9	610709	610872	E071	16012
chr9	610900	610999	E071	16203
chr9	613610	614810	E071	18913
chr9	614921	614971	E071	20224
chr9	614997	615051	E071	20300
chr9	615455	615495	E071	20758
chr9	615882	615993	E071	21185
chr9	616662	617026	E071	21965
chr9	618535	618774	E071	23838
chr9	618781	618874	E071	24084
chr9	619108	619185	E071	24411
chr9	619431	619591	E071	24734
chr9	621214	621897	E071	26517
chr9	624857	624934	E071	30160
chr9	624987	625545	E071	30290
chr9	625570	625630	E071	30873
chr9	625687	625737	E071	30990
chr9	625760	625951	E071	31063
chr9	625970	626215	E071	31273
chr9	626378	626418	E071	31681
chr9	626554	626692	E071	31857
chr9	626731	626962	E071	32034
chr9	627032	627454	E071	32335
chr9	544890	545079	E072	-49618
chr9	545245	545352	E072	-49345
chr9	545536	545720	E072	-48977
chr9	545724	545829	E072	-48868
chr9	547891	548104	E072	-46593
chr9	549261	549344	E072	-45353
chr9	549370	550149	E072	-44548
chr9	552035	552935	E072	-41762
chr9	560845	561205	E072	-33492
chr9	561468	561924	E072	-32773
chr9	562439	562642	E072	-32055
chr9	562912	563844	E072	-30853
chr9	563874	564064	E072	-30633
chr9	564319	564395	E072	-30302
chr9	564787	564837	E072	-29860
chr9	564856	564906	E072	-29791
chr9	564910	564998	E072	-29699
chr9	569032	570658	E072	-24039
chr9	570713	570786	E072	-23911
chr9	570925	570999	E072	-23698
chr9	571096	571215	E072	-23482
chr9	571221	571532	E072	-23165
chr9	573583	574603	E072	-20094
chr9	574933	575460	E072	-19237
chr9	587598	587704	E072	-6993
chr9	589168	589389	E072	-5308
chr9	589520	589584	E072	-5113
chr9	589600	590159	E072	-4538
chr9	590160	590507	E072	-4190
chr9	591279	591734	E072	-2963
chr9	591999	592597	E072	-2100
chr9	596434	596484	E072	1737
chr9	608530	608829	E072	13833
chr9	608920	609108	E072	14223
chr9	611236	611286	E072	16539
chr9	613610	614810	E072	18913
chr9	619431	619591	E072	24734
chr9	624857	624934	E072	30160
chr9	624987	625545	E072	30290
chr9	625570	625630	E072	30873
chr9	625687	625737	E072	30990
chr9	625760	625951	E072	31063
chr9	625970	626215	E072	31273
chr9	626378	626418	E072	31681
chr9	626554	626692	E072	31857
chr9	626731	626962	E072	32034
chr9	627032	627454	E072	32335
chr9	627620	627910	E072	32923
chr9	637287	637489	E072	42590
chr9	544890	545079	E073	-49618
chr9	545245	545352	E073	-49345
chr9	545536	545720	E073	-48977
chr9	545724	545829	E073	-48868
chr9	546262	547628	E073	-47069
chr9	573583	574603	E073	-20094
chr9	589600	590159	E073	-4538
chr9	613610	614810	E073	18913
chr9	615882	615993	E073	21185
chr9	616040	616350	E073	21343
chr9	621214	621897	E073	26517
chr9	624857	624934	E073	30160
chr9	624987	625545	E073	30290
chr9	625570	625630	E073	30873
chr9	625687	625737	E073	30990
chr9	625760	625951	E073	31063
chr9	625970	626215	E073	31273
chr9	626378	626418	E073	31681
chr9	626554	626692	E073	31857
chr9	626731	626962	E073	32034
chr9	627032	627454	E073	32335
chr9	544890	545079	E074	-49618
chr9	545245	545352	E074	-49345
chr9	545536	545720	E074	-48977
chr9	545724	545829	E074	-48868
chr9	546262	547628	E074	-47069
chr9	547741	547856	E074	-46841
chr9	547891	548104	E074	-46593
chr9	548193	548243	E074	-46454
chr9	552035	552935	E074	-41762
chr9	562439	562642	E074	-32055
chr9	569032	570658	E074	-24039
chr9	570713	570786	E074	-23911
chr9	570925	570999	E074	-23698
chr9	571096	571215	E074	-23482
chr9	571221	571532	E074	-23165
chr9	572958	573162	E074	-21535
chr9	573583	574603	E074	-20094
chr9	588968	589039	E074	-5658
chr9	589168	589389	E074	-5308
chr9	589520	589584	E074	-5113
chr9	589600	590159	E074	-4538
chr9	590160	590507	E074	-4190
chr9	591279	591734	E074	-2963
chr9	591999	592597	E074	-2100
chr9	596434	596484	E074	1737
chr9	613610	614810	E074	18913
chr9	614921	614971	E074	20224
chr9	614997	615051	E074	20300
chr9	617361	617943	E074	22664
chr9	618781	618874	E074	24084
chr9	619108	619185	E074	24411
chr9	619431	619591	E074	24734
chr9	624857	624934	E074	30160
chr9	624987	625545	E074	30290
chr9	625570	625630	E074	30873
chr9	625687	625737	E074	30990
chr9	625760	625951	E074	31063
chr9	625970	626215	E074	31273
chr9	626378	626418	E074	31681
chr9	626554	626692	E074	31857
chr9	626731	626962	E074	32034
chr9	627032	627454	E074	32335
chr9	627620	627910	E074	32923
chr9	628077	628139	E074	33380
chr9	628176	628272	E074	33479
chr9	628389	628472	E074	33692
chr9	546262	547628	E081	-47069
chr9	547741	547856	E081	-46841
chr9	552035	552935	E081	-41762