rs2804308

Organism: Homo sapiens

Alleles: C>G

Gene : Feature

KANK1 : Intron Variant

p-value: Check p-value

Variation Type: SNV (Single Nucleotide Variation)

Frequency:

C==0254 (7494/29472,GnomAD)
C==0328 (1645/5008,1000G)
C==0192 (741/3854,ALSPAC)
C==0187 (692/3708,TWINSUK)

Position: chr9:607382 (GRCh38.p7) (9p24.3)

Phenotype: AD

Dataset:

GWASdb2

Publications: 1 publication(s)

Genomic View: See rs on genome

Enhancer: 382 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.607382C>G
GRCh37.p13 chr 9	NC_000009.11:g.607382C>G
KANK1 RefSeqGene	NG_016331.2:g.142089C>G

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	C=0.331	G=0.669
1000Genomes	American	Sub	694	C=0.300	G=0.700
1000Genomes	East Asian	Sub	1008	C=0.560	G=0.440
1000Genomes	Europe	Sub	1006	C=0.212	G=0.788
1000Genomes	Global	Study-wide	5008	C=0.328	G=0.672
1000Genomes	South Asian	Sub	978	C=0.230	G=0.770
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	C=0.192	G=0.808
The Genome Aggregation Database	African	Sub	8454	C=0.287	G=0.713
The Genome Aggregation Database	American	Sub	834	C=0.270	G=0.730
The Genome Aggregation Database	East Asian	Sub	1592	C=0.611	G=0.389
The Genome Aggregation Database	Europe	Sub	18290	C=0.205	G=0.794
The Genome Aggregation Database	Global	Study-wide	29472	C=0.254	G=0.745
The Genome Aggregation Database	Other	Sub	302	C=0.360	G=0.640
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	C=0.187	G=0.813

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
rs2804308	0.00023	alcohol consumption	23743675

eQTL of rs2804308 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 rs2804308 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	558445	558593	E067	-48789
chr9	560046	560243	E067	-47139
chr9	560348	560446	E067	-46936
chr9	560500	560550	E067	-46832
chr9	560701	560789	E067	-46593
chr9	560845	561205	E067	-46177
chr9	561468	561924	E067	-45458
chr9	562439	562642	E067	-44740
chr9	562912	563844	E067	-43538
chr9	563874	564064	E067	-43318
chr9	569032	570658	E067	-36724
chr9	570713	570786	E067	-36596
chr9	570925	570999	E067	-36383
chr9	571096	571215	E067	-36167
chr9	571221	571532	E067	-35850
chr9	571582	572115	E067	-35267
chr9	572958	573162	E067	-34220
chr9	573583	574603	E067	-32779
chr9	589168	589389	E067	-17993
chr9	589520	589584	E067	-17798
chr9	589600	590159	E067	-17223
chr9	590160	590507	E067	-16875
chr9	591279	591734	E067	-15648
chr9	591999	592597	E067	-14785
chr9	596434	596484	E067	-10898
chr9	611236	611286	E067	3854
chr9	611471	611521	E067	4089
chr9	613610	614810	E067	6228
chr9	614921	614971	E067	7539
chr9	614997	615051	E067	7615
chr9	625970	626215	E067	18588
chr9	626378	626418	E067	18996
chr9	626554	626692	E067	19172
chr9	626731	626962	E067	19349
chr9	627032	627454	E067	19650
chr9	649464	649952	E067	42082
chr9	650304	650836	E067	42922
chr9	650892	651134	E067	43510
chr9	651529	651665	E067	44147
chr9	652544	653408	E067	45162
chr9	653610	653690	E067	46228
chr9	653720	653818	E067	46338
chr9	655724	656365	E067	48342
chr9	656382	656488	E067	49000
chr9	560845	561205	E068	-46177
chr9	561468	561924	E068	-45458
chr9	562439	562642	E068	-44740
chr9	564319	564395	E068	-42987
chr9	564787	564837	E068	-42545
chr9	570713	570786	E068	-36596
chr9	570925	570999	E068	-36383
chr9	571096	571215	E068	-36167
chr9	571221	571532	E068	-35850
chr9	571582	572115	E068	-35267
chr9	573583	574603	E068	-32779
chr9	574613	574653	E068	-32729
chr9	574754	574818	E068	-32564
chr9	579663	579718	E068	-27664
chr9	589168	589389	E068	-17993
chr9	589520	589584	E068	-17798
chr9	589600	590159	E068	-17223
chr9	590160	590507	E068	-16875
chr9	590828	590904	E068	-16478
chr9	590966	591151	E068	-16231
chr9	591279	591734	E068	-15648
chr9	591999	592597	E068	-14785
chr9	608530	608829	E068	1148
chr9	608920	609108	E068	1538
chr9	611236	611286	E068	3854
chr9	611471	611521	E068	4089
chr9	615882	615993	E068	8500
chr9	616662	617026	E068	9280
chr9	617361	617943	E068	9979
chr9	619108	619185	E068	11726
chr9	619431	619591	E068	12049
chr9	621214	621897	E068	13832
chr9	624987	625545	E068	17605
chr9	625570	625630	E068	18188
chr9	625687	625737	E068	18305
chr9	625760	625951	E068	18378
chr9	625970	626215	E068	18588
chr9	626378	626418	E068	18996
chr9	627032	627454	E068	19650
chr9	627620	627910	E068	20238
chr9	628077	628139	E068	20695
chr9	628176	628272	E068	20794
chr9	628389	628472	E068	21007
chr9	628480	628617	E068	21098
chr9	628640	628731	E068	21258
chr9	629215	629404	E068	21833
chr9	629442	629570	E068	22060
chr9	638055	638151	E068	30673
chr9	638197	638452	E068	30815
chr9	639026	639122	E068	31644
chr9	639186	639236	E068	31804
chr9	641365	641539	E068	33983
chr9	641793	641883	E068	34411
chr9	641977	642547	E068	34595
chr9	648430	649387	E068	41048
chr9	649464	649952	E068	42082
chr9	650304	650836	E068	42922
chr9	650892	651134	E068	43510
chr9	651529	651665	E068	44147
chr9	652544	653408	E068	45162
chr9	653610	653690	E068	46228
chr9	653720	653818	E068	46338
chr9	653929	654041	E068	46547
chr9	654174	654375	E068	46792
chr9	654561	654672	E068	47179
chr9	654773	655014	E068	47391
chr9	655724	656365	E068	48342
chr9	656382	656488	E068	49000
chr9	560348	560446	E069	-46936
chr9	560500	560550	E069	-46832
chr9	560701	560789	E069	-46593
chr9	560845	561205	E069	-46177
chr9	561468	561924	E069	-45458
chr9	562439	562642	E069	-44740
chr9	562912	563844	E069	-43538
chr9	563874	564064	E069	-43318
chr9	564319	564395	E069	-42987
chr9	564787	564837	E069	-42545
chr9	564856	564906	E069	-42476
chr9	564910	564998	E069	-42384
chr9	567283	567458	E069	-39924
chr9	567464	567885	E069	-39497
chr9	569032	570658	E069	-36724
chr9	570713	570786	E069	-36596
chr9	570925	570999	E069	-36383
chr9	571096	571215	E069	-36167
chr9	571221	571532	E069	-35850
chr9	571582	572115	E069	-35267
chr9	573583	574603	E069	-32779
chr9	588968	589039	E069	-18343
chr9	589168	589389	E069	-17993
chr9	589520	589584	E069	-17798
chr9	589600	590159	E069	-17223
chr9	590160	590507	E069	-16875
chr9	590828	590904	E069	-16478
chr9	590966	591151	E069	-16231
chr9	591279	591734	E069	-15648
chr9	596434	596484	E069	-10898
chr9	608530	608829	E069	1148
chr9	608920	609108	E069	1538
chr9	610709	610872	E069	3327
chr9	610900	610999	E069	3518
chr9	611236	611286	E069	3854
chr9	613610	614810	E069	6228
chr9	614921	614971	E069	7539
chr9	614997	615051	E069	7615
chr9	619431	619591	E069	12049
chr9	621214	621897	E069	13832
chr9	624987	625545	E069	17605
chr9	625570	625630	E069	18188
chr9	625687	625737	E069	18305
chr9	625760	625951	E069	18378
chr9	625970	626215	E069	18588
chr9	626378	626418	E069	18996
chr9	626554	626692	E069	19172
chr9	626731	626962	E069	19349
chr9	627032	627454	E069	19650
chr9	627620	627910	E069	20238
chr9	628077	628139	E069	20695
chr9	628176	628272	E069	20794
chr9	628389	628472	E069	21007
chr9	628480	628617	E069	21098
chr9	628640	628731	E069	21258
chr9	629215	629404	E069	21833
chr9	630950	631064	E069	23568
chr9	649464	649952	E069	42082
chr9	650304	650836	E069	42922
chr9	650892	651134	E069	43510
chr9	651529	651665	E069	44147
chr9	653610	653690	E069	46228
chr9	653720	653818	E069	46338
chr9	653929	654041	E069	46547
chr9	654174	654375	E069	46792
chr9	655500	655658	E069	48118
chr9	655724	656365	E069	48342
chr9	656382	656488	E069	49000
chr9	557794	558197	E071	-49185
chr9	558445	558593	E071	-48789
chr9	559734	560039	E071	-47343
chr9	560046	560243	E071	-47139
chr9	560348	560446	E071	-46936
chr9	560500	560550	E071	-46832
chr9	560701	560789	E071	-46593
chr9	560845	561205	E071	-46177
chr9	561468	561924	E071	-45458
chr9	562439	562642	E071	-44740
chr9	564787	564837	E071	-42545
chr9	564856	564906	E071	-42476
chr9	564910	564998	E071	-42384
chr9	567283	567458	E071	-39924
chr9	567464	567885	E071	-39497
chr9	570713	570786	E071	-36596
chr9	570925	570999	E071	-36383
chr9	571096	571215	E071	-36167
chr9	571221	571532	E071	-35850
chr9	571582	572115	E071	-35267
chr9	572190	572355	E071	-35027
chr9	572408	572499	E071	-34883
chr9	572634	572717	E071	-34665
chr9	572958	573162	E071	-34220
chr9	573583	574603	E071	-32779
chr9	574613	574653	E071	-32729
chr9	574754	574818	E071	-32564
chr9	574933	575460	E071	-31922
chr9	578859	578948	E071	-28434
chr9	578963	579071	E071	-28311
chr9	588763	588891	E071	-18491
chr9	588968	589039	E071	-18343
chr9	589168	589389	E071	-17993
chr9	589520	589584	E071	-17798
chr9	589600	590159	E071	-17223
chr9	591279	591734	E071	-15648
chr9	591999	592597	E071	-14785
chr9	592742	592795	E071	-14587
chr9	592890	592970	E071	-14412
chr9	596434	596484	E071	-10898
chr9	608530	608829	E071	1148
chr9	608920	609108	E071	1538
chr9	610633	610683	E071	3251
chr9	610709	610872	E071	3327
chr9	610900	610999	E071	3518
chr9	613610	614810	E071	6228
chr9	614921	614971	E071	7539
chr9	614997	615051	E071	7615
chr9	615455	615495	E071	8073
chr9	615882	615993	E071	8500
chr9	616662	617026	E071	9280
chr9	618535	618774	E071	11153
chr9	618781	618874	E071	11399
chr9	619108	619185	E071	11726
chr9	619431	619591	E071	12049
chr9	621214	621897	E071	13832
chr9	624857	624934	E071	17475
chr9	624987	625545	E071	17605
chr9	625570	625630	E071	18188
chr9	625687	625737	E071	18305
chr9	625760	625951	E071	18378
chr9	625970	626215	E071	18588
chr9	626378	626418	E071	18996
chr9	626554	626692	E071	19172
chr9	626731	626962	E071	19349
chr9	627032	627454	E071	19650
chr9	648430	649387	E071	41048
chr9	649464	649952	E071	42082
chr9	650304	650836	E071	42922
chr9	650892	651134	E071	43510
chr9	651529	651665	E071	44147
chr9	652544	653408	E071	45162
chr9	653610	653690	E071	46228
chr9	653720	653818	E071	46338
chr9	653929	654041	E071	46547
chr9	654174	654375	E071	46792
chr9	654561	654672	E071	47179
chr9	654773	655014	E071	47391
chr9	655027	655119	E071	47645
chr9	655724	656365	E071	48342
chr9	656382	656488	E071	49000
chr9	560845	561205	E072	-46177
chr9	561468	561924	E072	-45458
chr9	562439	562642	E072	-44740
chr9	562912	563844	E072	-43538
chr9	563874	564064	E072	-43318
chr9	564319	564395	E072	-42987
chr9	564787	564837	E072	-42545
chr9	564856	564906	E072	-42476
chr9	564910	564998	E072	-42384
chr9	569032	570658	E072	-36724
chr9	570713	570786	E072	-36596
chr9	570925	570999	E072	-36383
chr9	571096	571215	E072	-36167
chr9	571221	571532	E072	-35850
chr9	573583	574603	E072	-32779
chr9	574933	575460	E072	-31922
chr9	587598	587704	E072	-19678
chr9	589168	589389	E072	-17993
chr9	589520	589584	E072	-17798
chr9	589600	590159	E072	-17223
chr9	590160	590507	E072	-16875
chr9	591279	591734	E072	-15648
chr9	591999	592597	E072	-14785
chr9	596434	596484	E072	-10898
chr9	608530	608829	E072	1148
chr9	608920	609108	E072	1538
chr9	611236	611286	E072	3854
chr9	613610	614810	E072	6228
chr9	619431	619591	E072	12049
chr9	624857	624934	E072	17475
chr9	624987	625545	E072	17605
chr9	625570	625630	E072	18188
chr9	625687	625737	E072	18305
chr9	625760	625951	E072	18378
chr9	625970	626215	E072	18588
chr9	626378	626418	E072	18996
chr9	626554	626692	E072	19172
chr9	626731	626962	E072	19349
chr9	627032	627454	E072	19650
chr9	627620	627910	E072	20238
chr9	637287	637489	E072	29905
chr9	649464	649952	E072	42082
chr9	650304	650836	E072	42922
chr9	650892	651134	E072	43510
chr9	651529	651665	E072	44147
chr9	652544	653408	E072	45162
chr9	653610	653690	E072	46228
chr9	653720	653818	E072	46338
chr9	653929	654041	E072	46547
chr9	654174	654375	E072	46792
chr9	573583	574603	E073	-32779
chr9	589600	590159	E073	-17223
chr9	613610	614810	E073	6228
chr9	615882	615993	E073	8500
chr9	616040	616350	E073	8658
chr9	621214	621897	E073	13832
chr9	624857	624934	E073	17475
chr9	624987	625545	E073	17605
chr9	625570	625630	E073	18188
chr9	625687	625737	E073	18305
chr9	625760	625951	E073	18378
chr9	625970	626215	E073	18588
chr9	626378	626418	E073	18996
chr9	626554	626692	E073	19172
chr9	626731	626962	E073	19349
chr9	627032	627454	E073	19650
chr9	650304	650836	E073	42922
chr9	650892	651134	E073	43510
chr9	653610	653690	E073	46228
chr9	655724	656365	E073	48342
chr9	656382	656488	E073	49000
chr9	562439	562642	E074	-44740
chr9	569032	570658	E074	-36724
chr9	570713	570786	E074	-36596
chr9	570925	570999	E074	-36383
chr9	571096	571215	E074	-36167
chr9	571221	571532	E074	-35850
chr9	572958	573162	E074	-34220
chr9	573583	574603	E074	-32779
chr9	588968	589039	E074	-18343
chr9	589168	589389	E074	-17993
chr9	589520	589584	E074	-17798
chr9	589600	590159	E074	-17223
chr9	590160	590507	E074	-16875
chr9	591279	591734	E074	-15648
chr9	591999	592597	E074	-14785
chr9	596434	596484	E074	-10898
chr9	613610	614810	E074	6228
chr9	614921	614971	E074	7539
chr9	614997	615051	E074	7615
chr9	617361	617943	E074	9979
chr9	618781	618874	E074	11399
chr9	619108	619185	E074	11726
chr9	619431	619591	E074	12049
chr9	624857	624934	E074	17475
chr9	624987	625545	E074	17605
chr9	625570	625630	E074	18188
chr9	625687	625737	E074	18305
chr9	625760	625951	E074	18378
chr9	625970	626215	E074	18588
chr9	626378	626418	E074	18996
chr9	626554	626692	E074	19172
chr9	626731	626962	E074	19349
chr9	627032	627454	E074	19650
chr9	627620	627910	E074	20238
chr9	628077	628139	E074	20695
chr9	628176	628272	E074	20794
chr9	628389	628472	E074	21007
chr9	649464	649952	E074	42082
chr9	650304	650836	E074	42922
chr9	650892	651134	E074	43510
chr9	651529	651665	E074	44147
chr9	653610	653690	E074	46228
chr9	653720	653818	E074	46338
chr9	653929	654041	E074	46547
chr9	654174	654375	E074	46792
chr9	655724	656365	E074	48342
chr9	656382	656488	E074	49000
chr9	649464	649952	E081	42082
chr9	649464	649952	E082	42082
chr9	650304	650836	E082	42922