rs4610808

Organism: Homo sapiens

Alleles: C>G

Gene : Feature

KANK1 : Intron Variant

p-value: Check p-value

Variation Type: SNV (Single Nucleotide Variation)

Frequency:

C==0250 (7505/29916,GnomAD)
C==0263 (7684/29116,TOPMED)
C==0324 (1621/5008,1000G)
C==0187 (722/3854,ALSPAC)
C==0183 (677/3708,TWINSUK)

Position: chr9:614707 (GRCh38.p7) (9p24.3)

Phenotype: AD

Dataset:

GWASdb2

Publications: 1 publication(s)

Genomic View: See rs on genome

Enhancer: 359 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.614707C>G
GRCh37.p13 chr 9	NC_000009.11:g.614707C>G
KANK1 RefSeqGene	NG_016331.2:g.149414C>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 X3	XM_017014512.1: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 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=0.322	G=0.678
1000Genomes	American	Sub	694	C=0.300	G=0.700
1000Genomes	East Asian	Sub	1008	C=0.556	G=0.444
1000Genomes	Europe	Sub	1006	C=0.208	G=0.792
1000Genomes	Global	Study-wide	5008	C=0.324	G=0.676
1000Genomes	South Asian	Sub	978	C=0.220	G=0.780
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	C=0.187	G=0.813
The Genome Aggregation Database	African	Sub	8696	C=0.283	G=0.717
The Genome Aggregation Database	American	Sub	838	C=0.260	G=0.740
The Genome Aggregation Database	East Asian	Sub	1612	C=0.610	G=0.390
The Genome Aggregation Database	Europe	Sub	18468	C=0.202	G=0.797
The Genome Aggregation Database	Global	Study-wide	29916	C=0.250	G=0.749
The Genome Aggregation Database	Other	Sub	302	C=0.350	G=0.650
Trans-Omics for Precision Medicine	Global	Study-wide	29116	C=0.263	G=0.736
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	C=0.183	G=0.817

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
rs4610808	0.000221	alcohol consumption	23743675

eQTL of rs4610808 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 rs4610808 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	569032	570658	E067	-44049
chr9	570713	570786	E067	-43921
chr9	570925	570999	E067	-43708
chr9	571096	571215	E067	-43492
chr9	571221	571532	E067	-43175
chr9	571582	572115	E067	-42592
chr9	572958	573162	E067	-41545
chr9	573583	574603	E067	-40104
chr9	589168	589389	E067	-25318
chr9	589520	589584	E067	-25123
chr9	589600	590159	E067	-24548
chr9	590160	590507	E067	-24200
chr9	591279	591734	E067	-22973
chr9	591999	592597	E067	-22110
chr9	596434	596484	E067	-18223
chr9	611236	611286	E067	-3421
chr9	611471	611521	E067	-3186
chr9	613610	614810	E067	0
chr9	614921	614971	E067	214
chr9	614997	615051	E067	290
chr9	625970	626215	E067	11263
chr9	626378	626418	E067	11671
chr9	626554	626692	E067	11847
chr9	626731	626962	E067	12024
chr9	627032	627454	E067	12325
chr9	649464	649952	E067	34757
chr9	650304	650836	E067	35597
chr9	650892	651134	E067	36185
chr9	651529	651665	E067	36822
chr9	652544	653408	E067	37837
chr9	653610	653690	E067	38903
chr9	653720	653818	E067	39013
chr9	655724	656365	E067	41017
chr9	656382	656488	E067	41675
chr9	656617	657549	E067	41910
chr9	564787	564837	E068	-49870
chr9	570713	570786	E068	-43921
chr9	570925	570999	E068	-43708
chr9	571096	571215	E068	-43492
chr9	571221	571532	E068	-43175
chr9	571582	572115	E068	-42592
chr9	573583	574603	E068	-40104
chr9	574613	574653	E068	-40054
chr9	574754	574818	E068	-39889
chr9	579663	579718	E068	-34989
chr9	589168	589389	E068	-25318
chr9	589520	589584	E068	-25123
chr9	589600	590159	E068	-24548
chr9	590160	590507	E068	-24200
chr9	590828	590904	E068	-23803
chr9	590966	591151	E068	-23556
chr9	591279	591734	E068	-22973
chr9	591999	592597	E068	-22110
chr9	608530	608829	E068	-5878
chr9	608920	609108	E068	-5599
chr9	611236	611286	E068	-3421
chr9	611471	611521	E068	-3186
chr9	615882	615993	E068	1175
chr9	616662	617026	E068	1955
chr9	617361	617943	E068	2654
chr9	619108	619185	E068	4401
chr9	619431	619591	E068	4724
chr9	621214	621897	E068	6507
chr9	624987	625545	E068	10280
chr9	625570	625630	E068	10863
chr9	625687	625737	E068	10980
chr9	625760	625951	E068	11053
chr9	625970	626215	E068	11263
chr9	626378	626418	E068	11671
chr9	627032	627454	E068	12325
chr9	627620	627910	E068	12913
chr9	628077	628139	E068	13370
chr9	628176	628272	E068	13469
chr9	628389	628472	E068	13682
chr9	628480	628617	E068	13773
chr9	628640	628731	E068	13933
chr9	629215	629404	E068	14508
chr9	629442	629570	E068	14735
chr9	638055	638151	E068	23348
chr9	638197	638452	E068	23490
chr9	639026	639122	E068	24319
chr9	639186	639236	E068	24479
chr9	641365	641539	E068	26658
chr9	641793	641883	E068	27086
chr9	641977	642547	E068	27270
chr9	648430	649387	E068	33723
chr9	649464	649952	E068	34757
chr9	650304	650836	E068	35597
chr9	650892	651134	E068	36185
chr9	651529	651665	E068	36822
chr9	652544	653408	E068	37837
chr9	653610	653690	E068	38903
chr9	653720	653818	E068	39013
chr9	653929	654041	E068	39222
chr9	654174	654375	E068	39467
chr9	654561	654672	E068	39854
chr9	654773	655014	E068	40066
chr9	655724	656365	E068	41017
chr9	656382	656488	E068	41675
chr9	656617	657549	E068	41910
chr9	663607	663784	E068	48900
chr9	663874	663969	E068	49167
chr9	564787	564837	E069	-49870
chr9	564856	564906	E069	-49801
chr9	564910	564998	E069	-49709
chr9	567283	567458	E069	-47249
chr9	567464	567885	E069	-46822
chr9	569032	570658	E069	-44049
chr9	570713	570786	E069	-43921
chr9	570925	570999	E069	-43708
chr9	571096	571215	E069	-43492
chr9	571221	571532	E069	-43175
chr9	571582	572115	E069	-42592
chr9	573583	574603	E069	-40104
chr9	588968	589039	E069	-25668
chr9	589168	589389	E069	-25318
chr9	589520	589584	E069	-25123
chr9	589600	590159	E069	-24548
chr9	590160	590507	E069	-24200
chr9	590828	590904	E069	-23803
chr9	590966	591151	E069	-23556
chr9	591279	591734	E069	-22973
chr9	596434	596484	E069	-18223
chr9	608530	608829	E069	-5878
chr9	608920	609108	E069	-5599
chr9	610709	610872	E069	-3835
chr9	610900	610999	E069	-3708
chr9	611236	611286	E069	-3421
chr9	613610	614810	E069	0
chr9	614921	614971	E069	214
chr9	614997	615051	E069	290
chr9	619431	619591	E069	4724
chr9	621214	621897	E069	6507
chr9	624987	625545	E069	10280
chr9	625570	625630	E069	10863
chr9	625687	625737	E069	10980
chr9	625760	625951	E069	11053
chr9	625970	626215	E069	11263
chr9	626378	626418	E069	11671
chr9	626554	626692	E069	11847
chr9	626731	626962	E069	12024
chr9	627032	627454	E069	12325
chr9	627620	627910	E069	12913
chr9	628077	628139	E069	13370
chr9	628176	628272	E069	13469
chr9	628389	628472	E069	13682
chr9	628480	628617	E069	13773
chr9	628640	628731	E069	13933
chr9	629215	629404	E069	14508
chr9	630950	631064	E069	16243
chr9	649464	649952	E069	34757
chr9	650304	650836	E069	35597
chr9	650892	651134	E069	36185
chr9	651529	651665	E069	36822
chr9	653610	653690	E069	38903
chr9	653720	653818	E069	39013
chr9	653929	654041	E069	39222
chr9	654174	654375	E069	39467
chr9	655500	655658	E069	40793
chr9	655724	656365	E069	41017
chr9	656382	656488	E069	41675
chr9	656617	657549	E069	41910
chr9	663874	663969	E069	49167
chr9	564787	564837	E071	-49870
chr9	564856	564906	E071	-49801
chr9	564910	564998	E071	-49709
chr9	567283	567458	E071	-47249
chr9	567464	567885	E071	-46822
chr9	570713	570786	E071	-43921
chr9	570925	570999	E071	-43708
chr9	571096	571215	E071	-43492
chr9	571221	571532	E071	-43175
chr9	571582	572115	E071	-42592
chr9	572190	572355	E071	-42352
chr9	572408	572499	E071	-42208
chr9	572634	572717	E071	-41990
chr9	572958	573162	E071	-41545
chr9	573583	574603	E071	-40104
chr9	574613	574653	E071	-40054
chr9	574754	574818	E071	-39889
chr9	574933	575460	E071	-39247
chr9	578859	578948	E071	-35759
chr9	578963	579071	E071	-35636
chr9	588763	588891	E071	-25816
chr9	588968	589039	E071	-25668
chr9	589168	589389	E071	-25318
chr9	589520	589584	E071	-25123
chr9	589600	590159	E071	-24548
chr9	591279	591734	E071	-22973
chr9	591999	592597	E071	-22110
chr9	592742	592795	E071	-21912
chr9	592890	592970	E071	-21737
chr9	596434	596484	E071	-18223
chr9	608530	608829	E071	-5878
chr9	608920	609108	E071	-5599
chr9	610633	610683	E071	-4024
chr9	610709	610872	E071	-3835
chr9	610900	610999	E071	-3708
chr9	613610	614810	E071	0
chr9	614921	614971	E071	214
chr9	614997	615051	E071	290
chr9	615455	615495	E071	748
chr9	615882	615993	E071	1175
chr9	616662	617026	E071	1955
chr9	618535	618774	E071	3828
chr9	618781	618874	E071	4074
chr9	619108	619185	E071	4401
chr9	619431	619591	E071	4724
chr9	621214	621897	E071	6507
chr9	624857	624934	E071	10150
chr9	624987	625545	E071	10280
chr9	625570	625630	E071	10863
chr9	625687	625737	E071	10980
chr9	625760	625951	E071	11053
chr9	625970	626215	E071	11263
chr9	626378	626418	E071	11671
chr9	626554	626692	E071	11847
chr9	626731	626962	E071	12024
chr9	627032	627454	E071	12325
chr9	648430	649387	E071	33723
chr9	649464	649952	E071	34757
chr9	650304	650836	E071	35597
chr9	650892	651134	E071	36185
chr9	651529	651665	E071	36822
chr9	652544	653408	E071	37837
chr9	653610	653690	E071	38903
chr9	653720	653818	E071	39013
chr9	653929	654041	E071	39222
chr9	654174	654375	E071	39467
chr9	654561	654672	E071	39854
chr9	654773	655014	E071	40066
chr9	655027	655119	E071	40320
chr9	655724	656365	E071	41017
chr9	656382	656488	E071	41675
chr9	656617	657549	E071	41910
chr9	660865	660915	E071	46158
chr9	660943	661014	E071	46236
chr9	663607	663784	E071	48900
chr9	663874	663969	E071	49167
chr9	664039	664131	E071	49332
chr9	564787	564837	E072	-49870
chr9	564856	564906	E072	-49801
chr9	564910	564998	E072	-49709
chr9	569032	570658	E072	-44049
chr9	570713	570786	E072	-43921
chr9	570925	570999	E072	-43708
chr9	571096	571215	E072	-43492
chr9	571221	571532	E072	-43175
chr9	573583	574603	E072	-40104
chr9	574933	575460	E072	-39247
chr9	587598	587704	E072	-27003
chr9	589168	589389	E072	-25318
chr9	589520	589584	E072	-25123
chr9	589600	590159	E072	-24548
chr9	590160	590507	E072	-24200
chr9	591279	591734	E072	-22973
chr9	591999	592597	E072	-22110
chr9	596434	596484	E072	-18223
chr9	608530	608829	E072	-5878
chr9	608920	609108	E072	-5599
chr9	611236	611286	E072	-3421
chr9	613610	614810	E072	0
chr9	619431	619591	E072	4724
chr9	624857	624934	E072	10150
chr9	624987	625545	E072	10280
chr9	625570	625630	E072	10863
chr9	625687	625737	E072	10980
chr9	625760	625951	E072	11053
chr9	625970	626215	E072	11263
chr9	626378	626418	E072	11671
chr9	626554	626692	E072	11847
chr9	626731	626962	E072	12024
chr9	627032	627454	E072	12325
chr9	627620	627910	E072	12913
chr9	637287	637489	E072	22580
chr9	649464	649952	E072	34757
chr9	650304	650836	E072	35597
chr9	650892	651134	E072	36185
chr9	651529	651665	E072	36822
chr9	652544	653408	E072	37837
chr9	653610	653690	E072	38903
chr9	653720	653818	E072	39013
chr9	653929	654041	E072	39222
chr9	654174	654375	E072	39467
chr9	663607	663784	E072	48900
chr9	663874	663969	E072	49167
chr9	573583	574603	E073	-40104
chr9	589600	590159	E073	-24548
chr9	613610	614810	E073	0
chr9	615882	615993	E073	1175
chr9	616040	616350	E073	1333
chr9	621214	621897	E073	6507
chr9	624857	624934	E073	10150
chr9	624987	625545	E073	10280
chr9	625570	625630	E073	10863
chr9	625687	625737	E073	10980
chr9	625760	625951	E073	11053
chr9	625970	626215	E073	11263
chr9	626378	626418	E073	11671
chr9	626554	626692	E073	11847
chr9	626731	626962	E073	12024
chr9	627032	627454	E073	12325
chr9	650304	650836	E073	35597
chr9	650892	651134	E073	36185
chr9	653610	653690	E073	38903
chr9	655724	656365	E073	41017
chr9	656382	656488	E073	41675
chr9	656617	657549	E073	41910
chr9	569032	570658	E074	-44049
chr9	570713	570786	E074	-43921
chr9	570925	570999	E074	-43708
chr9	571096	571215	E074	-43492
chr9	571221	571532	E074	-43175
chr9	572958	573162	E074	-41545
chr9	573583	574603	E074	-40104
chr9	588968	589039	E074	-25668
chr9	589168	589389	E074	-25318
chr9	589520	589584	E074	-25123
chr9	589600	590159	E074	-24548
chr9	590160	590507	E074	-24200
chr9	591279	591734	E074	-22973
chr9	591999	592597	E074	-22110
chr9	596434	596484	E074	-18223
chr9	613610	614810	E074	0
chr9	614921	614971	E074	214
chr9	614997	615051	E074	290
chr9	617361	617943	E074	2654
chr9	618781	618874	E074	4074
chr9	619108	619185	E074	4401
chr9	619431	619591	E074	4724
chr9	624857	624934	E074	10150
chr9	624987	625545	E074	10280
chr9	625570	625630	E074	10863
chr9	625687	625737	E074	10980
chr9	625760	625951	E074	11053
chr9	625970	626215	E074	11263
chr9	626378	626418	E074	11671
chr9	626554	626692	E074	11847
chr9	626731	626962	E074	12024
chr9	627032	627454	E074	12325
chr9	627620	627910	E074	12913
chr9	628077	628139	E074	13370
chr9	628176	628272	E074	13469
chr9	628389	628472	E074	13682
chr9	649464	649952	E074	34757
chr9	650304	650836	E074	35597
chr9	650892	651134	E074	36185
chr9	651529	651665	E074	36822
chr9	653610	653690	E074	38903
chr9	653720	653818	E074	39013
chr9	653929	654041	E074	39222
chr9	654174	654375	E074	39467
chr9	655724	656365	E074	41017
chr9	656382	656488	E074	41675
chr9	663607	663784	E074	48900
chr9	663874	663969	E074	49167
chr9	649464	649952	E081	34757
chr9	649464	649952	E082	34757
chr9	650304	650836	E082	35597