rs7020705

Organism: Homo sapiens

Alleles: G>C

Gene : Feature

KANK1 : Intron Variant

p-value: Check p-value

Variation Type: SNV (Single Nucleotide Variation)

Frequency:

G==0241 (7225/29922,GnomAD)
G==0248 (7224/29116,TOPMED)
G==0312 (1565/5008,1000G)
G==0188 (723/3854,ALSPAC)
G==0182 (676/3708,TWINSUK)

Position: chr9:614803 (GRCh38.p7) (9p24.3)

Phenotype: AD

Dataset:

GWASdb2

Publications: 1 publication(s)

Genomic View: See rs on genome

Enhancer: 355 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.614803G>C
GRCh37.p13 chr 9	NC_000009.11:g.614803G>C
KANK1 RefSeqGene	NG_016331.2:g.149510G>C

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	G=0.280	C=0.720
1000Genomes	American	Sub	694	G=0.300	C=0.700
1000Genomes	East Asian	Sub	1008	G=0.557	C=0.443
1000Genomes	Europe	Sub	1006	G=0.208	C=0.792
1000Genomes	Global	Study-wide	5008	G=0.312	C=0.688
1000Genomes	South Asian	Sub	978	G=0.220	C=0.780
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	G=0.188	C=0.812
The Genome Aggregation Database	African	Sub	8696	G=0.249	C=0.751
The Genome Aggregation Database	American	Sub	838	G=0.270	C=0.730
The Genome Aggregation Database	East Asian	Sub	1612	G=0.617	C=0.383
The Genome Aggregation Database	Europe	Sub	18474	G=0.202	C=0.797
The Genome Aggregation Database	Global	Study-wide	29922	G=0.241	C=0.758
The Genome Aggregation Database	Other	Sub	302	G=0.350	C=0.650
Trans-Omics for Precision Medicine	Global	Study-wide	29116	G=0.248	C=0.751
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	G=0.182	C=0.818

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
rs7020705	0.000267	alcohol consumption	23743675

eQTL of rs7020705 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 rs7020705 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	-44145
chr9	570713	570786	E067	-44017
chr9	570925	570999	E067	-43804
chr9	571096	571215	E067	-43588
chr9	571221	571532	E067	-43271
chr9	571582	572115	E067	-42688
chr9	572958	573162	E067	-41641
chr9	573583	574603	E067	-40200
chr9	589168	589389	E067	-25414
chr9	589520	589584	E067	-25219
chr9	589600	590159	E067	-24644
chr9	590160	590507	E067	-24296
chr9	591279	591734	E067	-23069
chr9	591999	592597	E067	-22206
chr9	596434	596484	E067	-18319
chr9	611236	611286	E067	-3517
chr9	611471	611521	E067	-3282
chr9	613610	614810	E067	0
chr9	614921	614971	E067	118
chr9	614997	615051	E067	194
chr9	625970	626215	E067	11167
chr9	626378	626418	E067	11575
chr9	626554	626692	E067	11751
chr9	626731	626962	E067	11928
chr9	627032	627454	E067	12229
chr9	649464	649952	E067	34661
chr9	650304	650836	E067	35501
chr9	650892	651134	E067	36089
chr9	651529	651665	E067	36726
chr9	652544	653408	E067	37741
chr9	653610	653690	E067	38807
chr9	653720	653818	E067	38917
chr9	655724	656365	E067	40921
chr9	656382	656488	E067	41579
chr9	656617	657549	E067	41814
chr9	570713	570786	E068	-44017
chr9	570925	570999	E068	-43804
chr9	571096	571215	E068	-43588
chr9	571221	571532	E068	-43271
chr9	571582	572115	E068	-42688
chr9	573583	574603	E068	-40200
chr9	574613	574653	E068	-40150
chr9	574754	574818	E068	-39985
chr9	579663	579718	E068	-35085
chr9	589168	589389	E068	-25414
chr9	589520	589584	E068	-25219
chr9	589600	590159	E068	-24644
chr9	590160	590507	E068	-24296
chr9	590828	590904	E068	-23899
chr9	590966	591151	E068	-23652
chr9	591279	591734	E068	-23069
chr9	591999	592597	E068	-22206
chr9	608530	608829	E068	-5974
chr9	608920	609108	E068	-5695
chr9	611236	611286	E068	-3517
chr9	611471	611521	E068	-3282
chr9	615882	615993	E068	1079
chr9	616662	617026	E068	1859
chr9	617361	617943	E068	2558
chr9	619108	619185	E068	4305
chr9	619431	619591	E068	4628
chr9	621214	621897	E068	6411
chr9	624987	625545	E068	10184
chr9	625570	625630	E068	10767
chr9	625687	625737	E068	10884
chr9	625760	625951	E068	10957
chr9	625970	626215	E068	11167
chr9	626378	626418	E068	11575
chr9	627032	627454	E068	12229
chr9	627620	627910	E068	12817
chr9	628077	628139	E068	13274
chr9	628176	628272	E068	13373
chr9	628389	628472	E068	13586
chr9	628480	628617	E068	13677
chr9	628640	628731	E068	13837
chr9	629215	629404	E068	14412
chr9	629442	629570	E068	14639
chr9	638055	638151	E068	23252
chr9	638197	638452	E068	23394
chr9	639026	639122	E068	24223
chr9	639186	639236	E068	24383
chr9	641365	641539	E068	26562
chr9	641793	641883	E068	26990
chr9	641977	642547	E068	27174
chr9	648430	649387	E068	33627
chr9	649464	649952	E068	34661
chr9	650304	650836	E068	35501
chr9	650892	651134	E068	36089
chr9	651529	651665	E068	36726
chr9	652544	653408	E068	37741
chr9	653610	653690	E068	38807
chr9	653720	653818	E068	38917
chr9	653929	654041	E068	39126
chr9	654174	654375	E068	39371
chr9	654561	654672	E068	39758
chr9	654773	655014	E068	39970
chr9	655724	656365	E068	40921
chr9	656382	656488	E068	41579
chr9	656617	657549	E068	41814
chr9	663607	663784	E068	48804
chr9	663874	663969	E068	49071
chr9	564856	564906	E069	-49897
chr9	564910	564998	E069	-49805
chr9	567283	567458	E069	-47345
chr9	567464	567885	E069	-46918
chr9	569032	570658	E069	-44145
chr9	570713	570786	E069	-44017
chr9	570925	570999	E069	-43804
chr9	571096	571215	E069	-43588
chr9	571221	571532	E069	-43271
chr9	571582	572115	E069	-42688
chr9	573583	574603	E069	-40200
chr9	588968	589039	E069	-25764
chr9	589168	589389	E069	-25414
chr9	589520	589584	E069	-25219
chr9	589600	590159	E069	-24644
chr9	590160	590507	E069	-24296
chr9	590828	590904	E069	-23899
chr9	590966	591151	E069	-23652
chr9	591279	591734	E069	-23069
chr9	596434	596484	E069	-18319
chr9	608530	608829	E069	-5974
chr9	608920	609108	E069	-5695
chr9	610709	610872	E069	-3931
chr9	610900	610999	E069	-3804
chr9	611236	611286	E069	-3517
chr9	613610	614810	E069	0
chr9	614921	614971	E069	118
chr9	614997	615051	E069	194
chr9	619431	619591	E069	4628
chr9	621214	621897	E069	6411
chr9	624987	625545	E069	10184
chr9	625570	625630	E069	10767
chr9	625687	625737	E069	10884
chr9	625760	625951	E069	10957
chr9	625970	626215	E069	11167
chr9	626378	626418	E069	11575
chr9	626554	626692	E069	11751
chr9	626731	626962	E069	11928
chr9	627032	627454	E069	12229
chr9	627620	627910	E069	12817
chr9	628077	628139	E069	13274
chr9	628176	628272	E069	13373
chr9	628389	628472	E069	13586
chr9	628480	628617	E069	13677
chr9	628640	628731	E069	13837
chr9	629215	629404	E069	14412
chr9	630950	631064	E069	16147
chr9	649464	649952	E069	34661
chr9	650304	650836	E069	35501
chr9	650892	651134	E069	36089
chr9	651529	651665	E069	36726
chr9	653610	653690	E069	38807
chr9	653720	653818	E069	38917
chr9	653929	654041	E069	39126
chr9	654174	654375	E069	39371
chr9	655500	655658	E069	40697
chr9	655724	656365	E069	40921
chr9	656382	656488	E069	41579
chr9	656617	657549	E069	41814
chr9	663874	663969	E069	49071
chr9	564856	564906	E071	-49897
chr9	564910	564998	E071	-49805
chr9	567283	567458	E071	-47345
chr9	567464	567885	E071	-46918
chr9	570713	570786	E071	-44017
chr9	570925	570999	E071	-43804
chr9	571096	571215	E071	-43588
chr9	571221	571532	E071	-43271
chr9	571582	572115	E071	-42688
chr9	572190	572355	E071	-42448
chr9	572408	572499	E071	-42304
chr9	572634	572717	E071	-42086
chr9	572958	573162	E071	-41641
chr9	573583	574603	E071	-40200
chr9	574613	574653	E071	-40150
chr9	574754	574818	E071	-39985
chr9	574933	575460	E071	-39343
chr9	578859	578948	E071	-35855
chr9	578963	579071	E071	-35732
chr9	588763	588891	E071	-25912
chr9	588968	589039	E071	-25764
chr9	589168	589389	E071	-25414
chr9	589520	589584	E071	-25219
chr9	589600	590159	E071	-24644
chr9	591279	591734	E071	-23069
chr9	591999	592597	E071	-22206
chr9	592742	592795	E071	-22008
chr9	592890	592970	E071	-21833
chr9	596434	596484	E071	-18319
chr9	608530	608829	E071	-5974
chr9	608920	609108	E071	-5695
chr9	610633	610683	E071	-4120
chr9	610709	610872	E071	-3931
chr9	610900	610999	E071	-3804
chr9	613610	614810	E071	0
chr9	614921	614971	E071	118
chr9	614997	615051	E071	194
chr9	615455	615495	E071	652
chr9	615882	615993	E071	1079
chr9	616662	617026	E071	1859
chr9	618535	618774	E071	3732
chr9	618781	618874	E071	3978
chr9	619108	619185	E071	4305
chr9	619431	619591	E071	4628
chr9	621214	621897	E071	6411
chr9	624857	624934	E071	10054
chr9	624987	625545	E071	10184
chr9	625570	625630	E071	10767
chr9	625687	625737	E071	10884
chr9	625760	625951	E071	10957
chr9	625970	626215	E071	11167
chr9	626378	626418	E071	11575
chr9	626554	626692	E071	11751
chr9	626731	626962	E071	11928
chr9	627032	627454	E071	12229
chr9	648430	649387	E071	33627
chr9	649464	649952	E071	34661
chr9	650304	650836	E071	35501
chr9	650892	651134	E071	36089
chr9	651529	651665	E071	36726
chr9	652544	653408	E071	37741
chr9	653610	653690	E071	38807
chr9	653720	653818	E071	38917
chr9	653929	654041	E071	39126
chr9	654174	654375	E071	39371
chr9	654561	654672	E071	39758
chr9	654773	655014	E071	39970
chr9	655027	655119	E071	40224
chr9	655724	656365	E071	40921
chr9	656382	656488	E071	41579
chr9	656617	657549	E071	41814
chr9	660865	660915	E071	46062
chr9	660943	661014	E071	46140
chr9	663607	663784	E071	48804
chr9	663874	663969	E071	49071
chr9	664039	664131	E071	49236
chr9	564856	564906	E072	-49897
chr9	564910	564998	E072	-49805
chr9	569032	570658	E072	-44145
chr9	570713	570786	E072	-44017
chr9	570925	570999	E072	-43804
chr9	571096	571215	E072	-43588
chr9	571221	571532	E072	-43271
chr9	573583	574603	E072	-40200
chr9	574933	575460	E072	-39343
chr9	587598	587704	E072	-27099
chr9	589168	589389	E072	-25414
chr9	589520	589584	E072	-25219
chr9	589600	590159	E072	-24644
chr9	590160	590507	E072	-24296
chr9	591279	591734	E072	-23069
chr9	591999	592597	E072	-22206
chr9	596434	596484	E072	-18319
chr9	608530	608829	E072	-5974
chr9	608920	609108	E072	-5695
chr9	611236	611286	E072	-3517
chr9	613610	614810	E072	0
chr9	619431	619591	E072	4628
chr9	624857	624934	E072	10054
chr9	624987	625545	E072	10184
chr9	625570	625630	E072	10767
chr9	625687	625737	E072	10884
chr9	625760	625951	E072	10957
chr9	625970	626215	E072	11167
chr9	626378	626418	E072	11575
chr9	626554	626692	E072	11751
chr9	626731	626962	E072	11928
chr9	627032	627454	E072	12229
chr9	627620	627910	E072	12817
chr9	637287	637489	E072	22484
chr9	649464	649952	E072	34661
chr9	650304	650836	E072	35501
chr9	650892	651134	E072	36089
chr9	651529	651665	E072	36726
chr9	652544	653408	E072	37741
chr9	653610	653690	E072	38807
chr9	653720	653818	E072	38917
chr9	653929	654041	E072	39126
chr9	654174	654375	E072	39371
chr9	663607	663784	E072	48804
chr9	663874	663969	E072	49071
chr9	573583	574603	E073	-40200
chr9	589600	590159	E073	-24644
chr9	613610	614810	E073	0
chr9	615882	615993	E073	1079
chr9	616040	616350	E073	1237
chr9	621214	621897	E073	6411
chr9	624857	624934	E073	10054
chr9	624987	625545	E073	10184
chr9	625570	625630	E073	10767
chr9	625687	625737	E073	10884
chr9	625760	625951	E073	10957
chr9	625970	626215	E073	11167
chr9	626378	626418	E073	11575
chr9	626554	626692	E073	11751
chr9	626731	626962	E073	11928
chr9	627032	627454	E073	12229
chr9	650304	650836	E073	35501
chr9	650892	651134	E073	36089
chr9	653610	653690	E073	38807
chr9	655724	656365	E073	40921
chr9	656382	656488	E073	41579
chr9	656617	657549	E073	41814
chr9	569032	570658	E074	-44145
chr9	570713	570786	E074	-44017
chr9	570925	570999	E074	-43804
chr9	571096	571215	E074	-43588
chr9	571221	571532	E074	-43271
chr9	572958	573162	E074	-41641
chr9	573583	574603	E074	-40200
chr9	588968	589039	E074	-25764
chr9	589168	589389	E074	-25414
chr9	589520	589584	E074	-25219
chr9	589600	590159	E074	-24644
chr9	590160	590507	E074	-24296
chr9	591279	591734	E074	-23069
chr9	591999	592597	E074	-22206
chr9	596434	596484	E074	-18319
chr9	613610	614810	E074	0
chr9	614921	614971	E074	118
chr9	614997	615051	E074	194
chr9	617361	617943	E074	2558
chr9	618781	618874	E074	3978
chr9	619108	619185	E074	4305
chr9	619431	619591	E074	4628
chr9	624857	624934	E074	10054
chr9	624987	625545	E074	10184
chr9	625570	625630	E074	10767
chr9	625687	625737	E074	10884
chr9	625760	625951	E074	10957
chr9	625970	626215	E074	11167
chr9	626378	626418	E074	11575
chr9	626554	626692	E074	11751
chr9	626731	626962	E074	11928
chr9	627032	627454	E074	12229
chr9	627620	627910	E074	12817
chr9	628077	628139	E074	13274
chr9	628176	628272	E074	13373
chr9	628389	628472	E074	13586
chr9	649464	649952	E074	34661
chr9	650304	650836	E074	35501
chr9	650892	651134	E074	36089
chr9	651529	651665	E074	36726
chr9	653610	653690	E074	38807
chr9	653720	653818	E074	38917
chr9	653929	654041	E074	39126
chr9	654174	654375	E074	39371
chr9	655724	656365	E074	40921
chr9	656382	656488	E074	41579
chr9	663607	663784	E074	48804
chr9	663874	663969	E074	49071
chr9	649464	649952	E081	34661
chr9	649464	649952	E082	34661
chr9	650304	650836	E082	35501