rs1962203

Organism: Homo sapiens

Alleles: A>G

Gene : Feature

KANK1 : Intron Variant

p-value: Check p-value

Variation Type: SNV (Single Nucleotide Variation)

Frequency:

A==0242 (7224/29804,GnomAD)
A==0250 (7288/29116,TOPMED)
A==0312 (1562/5008,1000G)
A==0188 (723/3854,ALSPAC)
A==0182 (674/3708,TWINSUK)

Position: chr9:613215 (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.613215A>G
GRCh37.p13 chr 9	NC_000009.11:g.613215A>G
KANK1 RefSeqGene	NG_016331.2:g.147922A>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	A=0.276	G=0.724
1000Genomes	American	Sub	694	A=0.300	G=0.700
1000Genomes	East Asian	Sub	1008	A=0.559	G=0.441
1000Genomes	Europe	Sub	1006	A=0.210	G=0.790
1000Genomes	Global	Study-wide	5008	A=0.312	G=0.688
1000Genomes	South Asian	Sub	978	A=0.220	G=0.780
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	A=0.188	G=0.812
The Genome Aggregation Database	African	Sub	8632	A=0.252	G=0.748
The Genome Aggregation Database	American	Sub	838	A=0.260	G=0.740
The Genome Aggregation Database	East Asian	Sub	1588	A=0.611	G=0.389
The Genome Aggregation Database	Europe	Sub	18444	A=0.203	G=0.796
The Genome Aggregation Database	Global	Study-wide	29804	A=0.242	G=0.757
The Genome Aggregation Database	Other	Sub	302	A=0.350	G=0.650
Trans-Omics for Precision Medicine	Global	Study-wide	29116	A=0.250	G=0.749
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	A=0.182	G=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
rs1962203	0.000258	alcohol consumption	23743675

eQTL of rs1962203 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 rs1962203 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	563874	564064	E067	-49151
chr9	569032	570658	E067	-42557
chr9	570713	570786	E067	-42429
chr9	570925	570999	E067	-42216
chr9	571096	571215	E067	-42000
chr9	571221	571532	E067	-41683
chr9	571582	572115	E067	-41100
chr9	572958	573162	E067	-40053
chr9	573583	574603	E067	-38612
chr9	589168	589389	E067	-23826
chr9	589520	589584	E067	-23631
chr9	589600	590159	E067	-23056
chr9	590160	590507	E067	-22708
chr9	591279	591734	E067	-21481
chr9	591999	592597	E067	-20618
chr9	596434	596484	E067	-16731
chr9	611236	611286	E067	-1929
chr9	611471	611521	E067	-1694
chr9	613610	614810	E067	395
chr9	614921	614971	E067	1706
chr9	614997	615051	E067	1782
chr9	625970	626215	E067	12755
chr9	626378	626418	E067	13163
chr9	626554	626692	E067	13339
chr9	626731	626962	E067	13516
chr9	627032	627454	E067	13817
chr9	649464	649952	E067	36249
chr9	650304	650836	E067	37089
chr9	650892	651134	E067	37677
chr9	651529	651665	E067	38314
chr9	652544	653408	E067	39329
chr9	653610	653690	E067	40395
chr9	653720	653818	E067	40505
chr9	655724	656365	E067	42509
chr9	656382	656488	E067	43167
chr9	656617	657549	E067	43402
chr9	564319	564395	E068	-48820
chr9	564787	564837	E068	-48378
chr9	570713	570786	E068	-42429
chr9	570925	570999	E068	-42216
chr9	571096	571215	E068	-42000
chr9	571221	571532	E068	-41683
chr9	571582	572115	E068	-41100
chr9	573583	574603	E068	-38612
chr9	574613	574653	E068	-38562
chr9	574754	574818	E068	-38397
chr9	579663	579718	E068	-33497
chr9	589168	589389	E068	-23826
chr9	589520	589584	E068	-23631
chr9	589600	590159	E068	-23056
chr9	590160	590507	E068	-22708
chr9	590828	590904	E068	-22311
chr9	590966	591151	E068	-22064
chr9	591279	591734	E068	-21481
chr9	591999	592597	E068	-20618
chr9	608530	608829	E068	-4386
chr9	608920	609108	E068	-4107
chr9	611236	611286	E068	-1929
chr9	611471	611521	E068	-1694
chr9	615882	615993	E068	2667
chr9	616662	617026	E068	3447
chr9	617361	617943	E068	4146
chr9	619108	619185	E068	5893
chr9	619431	619591	E068	6216
chr9	621214	621897	E068	7999
chr9	624987	625545	E068	11772
chr9	625570	625630	E068	12355
chr9	625687	625737	E068	12472
chr9	625760	625951	E068	12545
chr9	625970	626215	E068	12755
chr9	626378	626418	E068	13163
chr9	627032	627454	E068	13817
chr9	627620	627910	E068	14405
chr9	628077	628139	E068	14862
chr9	628176	628272	E068	14961
chr9	628389	628472	E068	15174
chr9	628480	628617	E068	15265
chr9	628640	628731	E068	15425
chr9	629215	629404	E068	16000
chr9	629442	629570	E068	16227
chr9	638055	638151	E068	24840
chr9	638197	638452	E068	24982
chr9	639026	639122	E068	25811
chr9	639186	639236	E068	25971
chr9	641365	641539	E068	28150
chr9	641793	641883	E068	28578
chr9	641977	642547	E068	28762
chr9	648430	649387	E068	35215
chr9	649464	649952	E068	36249
chr9	650304	650836	E068	37089
chr9	650892	651134	E068	37677
chr9	651529	651665	E068	38314
chr9	652544	653408	E068	39329
chr9	653610	653690	E068	40395
chr9	653720	653818	E068	40505
chr9	653929	654041	E068	40714
chr9	654174	654375	E068	40959
chr9	654561	654672	E068	41346
chr9	654773	655014	E068	41558
chr9	655724	656365	E068	42509
chr9	656382	656488	E068	43167
chr9	656617	657549	E068	43402
chr9	563874	564064	E069	-49151
chr9	564319	564395	E069	-48820
chr9	564787	564837	E069	-48378
chr9	564856	564906	E069	-48309
chr9	564910	564998	E069	-48217
chr9	567283	567458	E069	-45757
chr9	567464	567885	E069	-45330
chr9	569032	570658	E069	-42557
chr9	570713	570786	E069	-42429
chr9	570925	570999	E069	-42216
chr9	571096	571215	E069	-42000
chr9	571221	571532	E069	-41683
chr9	571582	572115	E069	-41100
chr9	573583	574603	E069	-38612
chr9	588968	589039	E069	-24176
chr9	589168	589389	E069	-23826
chr9	589520	589584	E069	-23631
chr9	589600	590159	E069	-23056
chr9	590160	590507	E069	-22708
chr9	590828	590904	E069	-22311
chr9	590966	591151	E069	-22064
chr9	591279	591734	E069	-21481
chr9	596434	596484	E069	-16731
chr9	608530	608829	E069	-4386
chr9	608920	609108	E069	-4107
chr9	610709	610872	E069	-2343
chr9	610900	610999	E069	-2216
chr9	611236	611286	E069	-1929
chr9	613610	614810	E069	395
chr9	614921	614971	E069	1706
chr9	614997	615051	E069	1782
chr9	619431	619591	E069	6216
chr9	621214	621897	E069	7999
chr9	624987	625545	E069	11772
chr9	625570	625630	E069	12355
chr9	625687	625737	E069	12472
chr9	625760	625951	E069	12545
chr9	625970	626215	E069	12755
chr9	626378	626418	E069	13163
chr9	626554	626692	E069	13339
chr9	626731	626962	E069	13516
chr9	627032	627454	E069	13817
chr9	627620	627910	E069	14405
chr9	628077	628139	E069	14862
chr9	628176	628272	E069	14961
chr9	628389	628472	E069	15174
chr9	628480	628617	E069	15265
chr9	628640	628731	E069	15425
chr9	629215	629404	E069	16000
chr9	630950	631064	E069	17735
chr9	649464	649952	E069	36249
chr9	650304	650836	E069	37089
chr9	650892	651134	E069	37677
chr9	651529	651665	E069	38314
chr9	653610	653690	E069	40395
chr9	653720	653818	E069	40505
chr9	653929	654041	E069	40714
chr9	654174	654375	E069	40959
chr9	655500	655658	E069	42285
chr9	655724	656365	E069	42509
chr9	656382	656488	E069	43167
chr9	656617	657549	E069	43402
chr9	564787	564837	E071	-48378
chr9	564856	564906	E071	-48309
chr9	564910	564998	E071	-48217
chr9	567283	567458	E071	-45757
chr9	567464	567885	E071	-45330
chr9	570713	570786	E071	-42429
chr9	570925	570999	E071	-42216
chr9	571096	571215	E071	-42000
chr9	571221	571532	E071	-41683
chr9	571582	572115	E071	-41100
chr9	572190	572355	E071	-40860
chr9	572408	572499	E071	-40716
chr9	572634	572717	E071	-40498
chr9	572958	573162	E071	-40053
chr9	573583	574603	E071	-38612
chr9	574613	574653	E071	-38562
chr9	574754	574818	E071	-38397
chr9	574933	575460	E071	-37755
chr9	578859	578948	E071	-34267
chr9	578963	579071	E071	-34144
chr9	588763	588891	E071	-24324
chr9	588968	589039	E071	-24176
chr9	589168	589389	E071	-23826
chr9	589520	589584	E071	-23631
chr9	589600	590159	E071	-23056
chr9	591279	591734	E071	-21481
chr9	591999	592597	E071	-20618
chr9	592742	592795	E071	-20420
chr9	592890	592970	E071	-20245
chr9	596434	596484	E071	-16731
chr9	608530	608829	E071	-4386
chr9	608920	609108	E071	-4107
chr9	610633	610683	E071	-2532
chr9	610709	610872	E071	-2343
chr9	610900	610999	E071	-2216
chr9	613610	614810	E071	395
chr9	614921	614971	E071	1706
chr9	614997	615051	E071	1782
chr9	615455	615495	E071	2240
chr9	615882	615993	E071	2667
chr9	616662	617026	E071	3447
chr9	618535	618774	E071	5320
chr9	618781	618874	E071	5566
chr9	619108	619185	E071	5893
chr9	619431	619591	E071	6216
chr9	621214	621897	E071	7999
chr9	624857	624934	E071	11642
chr9	624987	625545	E071	11772
chr9	625570	625630	E071	12355
chr9	625687	625737	E071	12472
chr9	625760	625951	E071	12545
chr9	625970	626215	E071	12755
chr9	626378	626418	E071	13163
chr9	626554	626692	E071	13339
chr9	626731	626962	E071	13516
chr9	627032	627454	E071	13817
chr9	648430	649387	E071	35215
chr9	649464	649952	E071	36249
chr9	650304	650836	E071	37089
chr9	650892	651134	E071	37677
chr9	651529	651665	E071	38314
chr9	652544	653408	E071	39329
chr9	653610	653690	E071	40395
chr9	653720	653818	E071	40505
chr9	653929	654041	E071	40714
chr9	654174	654375	E071	40959
chr9	654561	654672	E071	41346
chr9	654773	655014	E071	41558
chr9	655027	655119	E071	41812
chr9	655724	656365	E071	42509
chr9	656382	656488	E071	43167
chr9	656617	657549	E071	43402
chr9	660865	660915	E071	47650
chr9	660943	661014	E071	47728
chr9	563874	564064	E072	-49151
chr9	564319	564395	E072	-48820
chr9	564787	564837	E072	-48378
chr9	564856	564906	E072	-48309
chr9	564910	564998	E072	-48217
chr9	569032	570658	E072	-42557
chr9	570713	570786	E072	-42429
chr9	570925	570999	E072	-42216
chr9	571096	571215	E072	-42000
chr9	571221	571532	E072	-41683
chr9	573583	574603	E072	-38612
chr9	574933	575460	E072	-37755
chr9	587598	587704	E072	-25511
chr9	589168	589389	E072	-23826
chr9	589520	589584	E072	-23631
chr9	589600	590159	E072	-23056
chr9	590160	590507	E072	-22708
chr9	591279	591734	E072	-21481
chr9	591999	592597	E072	-20618
chr9	596434	596484	E072	-16731
chr9	608530	608829	E072	-4386
chr9	608920	609108	E072	-4107
chr9	611236	611286	E072	-1929
chr9	613610	614810	E072	395
chr9	619431	619591	E072	6216
chr9	624857	624934	E072	11642
chr9	624987	625545	E072	11772
chr9	625570	625630	E072	12355
chr9	625687	625737	E072	12472
chr9	625760	625951	E072	12545
chr9	625970	626215	E072	12755
chr9	626378	626418	E072	13163
chr9	626554	626692	E072	13339
chr9	626731	626962	E072	13516
chr9	627032	627454	E072	13817
chr9	627620	627910	E072	14405
chr9	637287	637489	E072	24072
chr9	649464	649952	E072	36249
chr9	650304	650836	E072	37089
chr9	650892	651134	E072	37677
chr9	651529	651665	E072	38314
chr9	652544	653408	E072	39329
chr9	653610	653690	E072	40395
chr9	653720	653818	E072	40505
chr9	653929	654041	E072	40714
chr9	654174	654375	E072	40959
chr9	573583	574603	E073	-38612
chr9	589600	590159	E073	-23056
chr9	613610	614810	E073	395
chr9	615882	615993	E073	2667
chr9	616040	616350	E073	2825
chr9	621214	621897	E073	7999
chr9	624857	624934	E073	11642
chr9	624987	625545	E073	11772
chr9	625570	625630	E073	12355
chr9	625687	625737	E073	12472
chr9	625760	625951	E073	12545
chr9	625970	626215	E073	12755
chr9	626378	626418	E073	13163
chr9	626554	626692	E073	13339
chr9	626731	626962	E073	13516
chr9	627032	627454	E073	13817
chr9	650304	650836	E073	37089
chr9	650892	651134	E073	37677
chr9	653610	653690	E073	40395
chr9	655724	656365	E073	42509
chr9	656382	656488	E073	43167
chr9	656617	657549	E073	43402
chr9	569032	570658	E074	-42557
chr9	570713	570786	E074	-42429
chr9	570925	570999	E074	-42216
chr9	571096	571215	E074	-42000
chr9	571221	571532	E074	-41683
chr9	572958	573162	E074	-40053
chr9	573583	574603	E074	-38612
chr9	588968	589039	E074	-24176
chr9	589168	589389	E074	-23826
chr9	589520	589584	E074	-23631
chr9	589600	590159	E074	-23056
chr9	590160	590507	E074	-22708
chr9	591279	591734	E074	-21481
chr9	591999	592597	E074	-20618
chr9	596434	596484	E074	-16731
chr9	613610	614810	E074	395
chr9	614921	614971	E074	1706
chr9	614997	615051	E074	1782
chr9	617361	617943	E074	4146
chr9	618781	618874	E074	5566
chr9	619108	619185	E074	5893
chr9	619431	619591	E074	6216
chr9	624857	624934	E074	11642
chr9	624987	625545	E074	11772
chr9	625570	625630	E074	12355
chr9	625687	625737	E074	12472
chr9	625760	625951	E074	12545
chr9	625970	626215	E074	12755
chr9	626378	626418	E074	13163
chr9	626554	626692	E074	13339
chr9	626731	626962	E074	13516
chr9	627032	627454	E074	13817
chr9	627620	627910	E074	14405
chr9	628077	628139	E074	14862
chr9	628176	628272	E074	14961
chr9	628389	628472	E074	15174
chr9	649464	649952	E074	36249
chr9	650304	650836	E074	37089
chr9	650892	651134	E074	37677
chr9	651529	651665	E074	38314
chr9	653610	653690	E074	40395
chr9	653720	653818	E074	40505
chr9	653929	654041	E074	40714
chr9	654174	654375	E074	40959
chr9	655724	656365	E074	42509
chr9	656382	656488	E074	43167
chr9	649464	649952	E081	36249
chr9	649464	649952	E082	36249
chr9	650304	650836	E082	37089