rs2804304

Organism: Homo sapiens

Alleles: T>C

Gene : Feature

KANK1 : Intron Variant

p-value: Check p-value

Variation Type: SNV (Single Nucleotide Variation)

Frequency:

T==0268 (7581/28190,GnomAD)
T==0352 (1761/5008,1000G)

Position: chr9:606439 (GRCh38.p7) (9p24.3)

Phenotype: AD

Dataset:

GWASdb2

Publications: 1 publication(s)

Genomic View: See rs on genome

Enhancer: 376 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.606439T>C
GRCh37.p13 chr 9	NC_000009.11:g.606439T>C
KANK1 RefSeqGene	NG_016331.2:g.141146T>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 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	T=0.416	C=0.584
1000Genomes	American	Sub	694	T=0.310	C=0.690
1000Genomes	East Asian	Sub	1008	T=0.558	C=0.442
1000Genomes	Europe	Sub	1006	T=0.213	C=0.787
1000Genomes	Global	Study-wide	5008	T=0.352	C=0.648
1000Genomes	South Asian	Sub	978	T=0.230	C=0.770
The Genome Aggregation Database	African	Sub	7536	T=0.343	C=0.657
The Genome Aggregation Database	American	Sub	752	T=0.260	C=0.740
The Genome Aggregation Database	East Asian	Sub	1598	T=0.615	C=0.385
The Genome Aggregation Database	Europe	Sub	18006	T=0.206	C=0.794
The Genome Aggregation Database	Global	Study-wide	28190	T=0.268	C=0.731
The Genome Aggregation Database	Other	Sub	298	T=0.360	C=0.640

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
rs2804304	0.000114	alcohol consumption	23743675

eQTL of rs2804304 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 rs2804304 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	-47846
chr9	560046	560243	E067	-46196
chr9	560348	560446	E067	-45993
chr9	560500	560550	E067	-45889
chr9	560701	560789	E067	-45650
chr9	560845	561205	E067	-45234
chr9	561468	561924	E067	-44515
chr9	562439	562642	E067	-43797
chr9	562912	563844	E067	-42595
chr9	563874	564064	E067	-42375
chr9	569032	570658	E067	-35781
chr9	570713	570786	E067	-35653
chr9	570925	570999	E067	-35440
chr9	571096	571215	E067	-35224
chr9	571221	571532	E067	-34907
chr9	571582	572115	E067	-34324
chr9	572958	573162	E067	-33277
chr9	573583	574603	E067	-31836
chr9	589168	589389	E067	-17050
chr9	589520	589584	E067	-16855
chr9	589600	590159	E067	-16280
chr9	590160	590507	E067	-15932
chr9	591279	591734	E067	-14705
chr9	591999	592597	E067	-13842
chr9	596434	596484	E067	-9955
chr9	611236	611286	E067	4797
chr9	611471	611521	E067	5032
chr9	613610	614810	E067	7171
chr9	614921	614971	E067	8482
chr9	614997	615051	E067	8558
chr9	625970	626215	E067	19531
chr9	626378	626418	E067	19939
chr9	626554	626692	E067	20115
chr9	626731	626962	E067	20292
chr9	627032	627454	E067	20593
chr9	649464	649952	E067	43025
chr9	650304	650836	E067	43865
chr9	650892	651134	E067	44453
chr9	651529	651665	E067	45090
chr9	652544	653408	E067	46105
chr9	653610	653690	E067	47171
chr9	653720	653818	E067	47281
chr9	655724	656365	E067	49285
chr9	560845	561205	E068	-45234
chr9	561468	561924	E068	-44515
chr9	562439	562642	E068	-43797
chr9	564319	564395	E068	-42044
chr9	564787	564837	E068	-41602
chr9	570713	570786	E068	-35653
chr9	570925	570999	E068	-35440
chr9	571096	571215	E068	-35224
chr9	571221	571532	E068	-34907
chr9	571582	572115	E068	-34324
chr9	573583	574603	E068	-31836
chr9	574613	574653	E068	-31786
chr9	574754	574818	E068	-31621
chr9	579663	579718	E068	-26721
chr9	589168	589389	E068	-17050
chr9	589520	589584	E068	-16855
chr9	589600	590159	E068	-16280
chr9	590160	590507	E068	-15932
chr9	590828	590904	E068	-15535
chr9	590966	591151	E068	-15288
chr9	591279	591734	E068	-14705
chr9	591999	592597	E068	-13842
chr9	608530	608829	E068	2091
chr9	608920	609108	E068	2481
chr9	611236	611286	E068	4797
chr9	611471	611521	E068	5032
chr9	615882	615993	E068	9443
chr9	616662	617026	E068	10223
chr9	617361	617943	E068	10922
chr9	619108	619185	E068	12669
chr9	619431	619591	E068	12992
chr9	621214	621897	E068	14775
chr9	624987	625545	E068	18548
chr9	625570	625630	E068	19131
chr9	625687	625737	E068	19248
chr9	625760	625951	E068	19321
chr9	625970	626215	E068	19531
chr9	626378	626418	E068	19939
chr9	627032	627454	E068	20593
chr9	627620	627910	E068	21181
chr9	628077	628139	E068	21638
chr9	628176	628272	E068	21737
chr9	628389	628472	E068	21950
chr9	628480	628617	E068	22041
chr9	628640	628731	E068	22201
chr9	629215	629404	E068	22776
chr9	629442	629570	E068	23003
chr9	638055	638151	E068	31616
chr9	638197	638452	E068	31758
chr9	639026	639122	E068	32587
chr9	639186	639236	E068	32747
chr9	641365	641539	E068	34926
chr9	641793	641883	E068	35354
chr9	641977	642547	E068	35538
chr9	648430	649387	E068	41991
chr9	649464	649952	E068	43025
chr9	650304	650836	E068	43865
chr9	650892	651134	E068	44453
chr9	651529	651665	E068	45090
chr9	652544	653408	E068	46105
chr9	653610	653690	E068	47171
chr9	653720	653818	E068	47281
chr9	653929	654041	E068	47490
chr9	654174	654375	E068	47735
chr9	654561	654672	E068	48122
chr9	654773	655014	E068	48334
chr9	655724	656365	E068	49285
chr9	560348	560446	E069	-45993
chr9	560500	560550	E069	-45889
chr9	560701	560789	E069	-45650
chr9	560845	561205	E069	-45234
chr9	561468	561924	E069	-44515
chr9	562439	562642	E069	-43797
chr9	562912	563844	E069	-42595
chr9	563874	564064	E069	-42375
chr9	564319	564395	E069	-42044
chr9	564787	564837	E069	-41602
chr9	564856	564906	E069	-41533
chr9	564910	564998	E069	-41441
chr9	567283	567458	E069	-38981
chr9	567464	567885	E069	-38554
chr9	569032	570658	E069	-35781
chr9	570713	570786	E069	-35653
chr9	570925	570999	E069	-35440
chr9	571096	571215	E069	-35224
chr9	571221	571532	E069	-34907
chr9	571582	572115	E069	-34324
chr9	573583	574603	E069	-31836
chr9	588968	589039	E069	-17400
chr9	589168	589389	E069	-17050
chr9	589520	589584	E069	-16855
chr9	589600	590159	E069	-16280
chr9	590160	590507	E069	-15932
chr9	590828	590904	E069	-15535
chr9	590966	591151	E069	-15288
chr9	591279	591734	E069	-14705
chr9	596434	596484	E069	-9955
chr9	608530	608829	E069	2091
chr9	608920	609108	E069	2481
chr9	610709	610872	E069	4270
chr9	610900	610999	E069	4461
chr9	611236	611286	E069	4797
chr9	613610	614810	E069	7171
chr9	614921	614971	E069	8482
chr9	614997	615051	E069	8558
chr9	619431	619591	E069	12992
chr9	621214	621897	E069	14775
chr9	624987	625545	E069	18548
chr9	625570	625630	E069	19131
chr9	625687	625737	E069	19248
chr9	625760	625951	E069	19321
chr9	625970	626215	E069	19531
chr9	626378	626418	E069	19939
chr9	626554	626692	E069	20115
chr9	626731	626962	E069	20292
chr9	627032	627454	E069	20593
chr9	627620	627910	E069	21181
chr9	628077	628139	E069	21638
chr9	628176	628272	E069	21737
chr9	628389	628472	E069	21950
chr9	628480	628617	E069	22041
chr9	628640	628731	E069	22201
chr9	629215	629404	E069	22776
chr9	630950	631064	E069	24511
chr9	649464	649952	E069	43025
chr9	650304	650836	E069	43865
chr9	650892	651134	E069	44453
chr9	651529	651665	E069	45090
chr9	653610	653690	E069	47171
chr9	653720	653818	E069	47281
chr9	653929	654041	E069	47490
chr9	654174	654375	E069	47735
chr9	655500	655658	E069	49061
chr9	655724	656365	E069	49285
chr9	557794	558197	E071	-48242
chr9	558445	558593	E071	-47846
chr9	559734	560039	E071	-46400
chr9	560046	560243	E071	-46196
chr9	560348	560446	E071	-45993
chr9	560500	560550	E071	-45889
chr9	560701	560789	E071	-45650
chr9	560845	561205	E071	-45234
chr9	561468	561924	E071	-44515
chr9	562439	562642	E071	-43797
chr9	564787	564837	E071	-41602
chr9	564856	564906	E071	-41533
chr9	564910	564998	E071	-41441
chr9	567283	567458	E071	-38981
chr9	567464	567885	E071	-38554
chr9	570713	570786	E071	-35653
chr9	570925	570999	E071	-35440
chr9	571096	571215	E071	-35224
chr9	571221	571532	E071	-34907
chr9	571582	572115	E071	-34324
chr9	572190	572355	E071	-34084
chr9	572408	572499	E071	-33940
chr9	572634	572717	E071	-33722
chr9	572958	573162	E071	-33277
chr9	573583	574603	E071	-31836
chr9	574613	574653	E071	-31786
chr9	574754	574818	E071	-31621
chr9	574933	575460	E071	-30979
chr9	578859	578948	E071	-27491
chr9	578963	579071	E071	-27368
chr9	588763	588891	E071	-17548
chr9	588968	589039	E071	-17400
chr9	589168	589389	E071	-17050
chr9	589520	589584	E071	-16855
chr9	589600	590159	E071	-16280
chr9	591279	591734	E071	-14705
chr9	591999	592597	E071	-13842
chr9	592742	592795	E071	-13644
chr9	592890	592970	E071	-13469
chr9	596434	596484	E071	-9955
chr9	608530	608829	E071	2091
chr9	608920	609108	E071	2481
chr9	610633	610683	E071	4194
chr9	610709	610872	E071	4270
chr9	610900	610999	E071	4461
chr9	613610	614810	E071	7171
chr9	614921	614971	E071	8482
chr9	614997	615051	E071	8558
chr9	615455	615495	E071	9016
chr9	615882	615993	E071	9443
chr9	616662	617026	E071	10223
chr9	618535	618774	E071	12096
chr9	618781	618874	E071	12342
chr9	619108	619185	E071	12669
chr9	619431	619591	E071	12992
chr9	621214	621897	E071	14775
chr9	624857	624934	E071	18418
chr9	624987	625545	E071	18548
chr9	625570	625630	E071	19131
chr9	625687	625737	E071	19248
chr9	625760	625951	E071	19321
chr9	625970	626215	E071	19531
chr9	626378	626418	E071	19939
chr9	626554	626692	E071	20115
chr9	626731	626962	E071	20292
chr9	627032	627454	E071	20593
chr9	648430	649387	E071	41991
chr9	649464	649952	E071	43025
chr9	650304	650836	E071	43865
chr9	650892	651134	E071	44453
chr9	651529	651665	E071	45090
chr9	652544	653408	E071	46105
chr9	653610	653690	E071	47171
chr9	653720	653818	E071	47281
chr9	653929	654041	E071	47490
chr9	654174	654375	E071	47735
chr9	654561	654672	E071	48122
chr9	654773	655014	E071	48334
chr9	655027	655119	E071	48588
chr9	655724	656365	E071	49285
chr9	560845	561205	E072	-45234
chr9	561468	561924	E072	-44515
chr9	562439	562642	E072	-43797
chr9	562912	563844	E072	-42595
chr9	563874	564064	E072	-42375
chr9	564319	564395	E072	-42044
chr9	564787	564837	E072	-41602
chr9	564856	564906	E072	-41533
chr9	564910	564998	E072	-41441
chr9	569032	570658	E072	-35781
chr9	570713	570786	E072	-35653
chr9	570925	570999	E072	-35440
chr9	571096	571215	E072	-35224
chr9	571221	571532	E072	-34907
chr9	573583	574603	E072	-31836
chr9	574933	575460	E072	-30979
chr9	587598	587704	E072	-18735
chr9	589168	589389	E072	-17050
chr9	589520	589584	E072	-16855
chr9	589600	590159	E072	-16280
chr9	590160	590507	E072	-15932
chr9	591279	591734	E072	-14705
chr9	591999	592597	E072	-13842
chr9	596434	596484	E072	-9955
chr9	608530	608829	E072	2091
chr9	608920	609108	E072	2481
chr9	611236	611286	E072	4797
chr9	613610	614810	E072	7171
chr9	619431	619591	E072	12992
chr9	624857	624934	E072	18418
chr9	624987	625545	E072	18548
chr9	625570	625630	E072	19131
chr9	625687	625737	E072	19248
chr9	625760	625951	E072	19321
chr9	625970	626215	E072	19531
chr9	626378	626418	E072	19939
chr9	626554	626692	E072	20115
chr9	626731	626962	E072	20292
chr9	627032	627454	E072	20593
chr9	627620	627910	E072	21181
chr9	637287	637489	E072	30848
chr9	649464	649952	E072	43025
chr9	650304	650836	E072	43865
chr9	650892	651134	E072	44453
chr9	651529	651665	E072	45090
chr9	652544	653408	E072	46105
chr9	653610	653690	E072	47171
chr9	653720	653818	E072	47281
chr9	653929	654041	E072	47490
chr9	654174	654375	E072	47735
chr9	573583	574603	E073	-31836
chr9	589600	590159	E073	-16280
chr9	613610	614810	E073	7171
chr9	615882	615993	E073	9443
chr9	616040	616350	E073	9601
chr9	621214	621897	E073	14775
chr9	624857	624934	E073	18418
chr9	624987	625545	E073	18548
chr9	625570	625630	E073	19131
chr9	625687	625737	E073	19248
chr9	625760	625951	E073	19321
chr9	625970	626215	E073	19531
chr9	626378	626418	E073	19939
chr9	626554	626692	E073	20115
chr9	626731	626962	E073	20292
chr9	627032	627454	E073	20593
chr9	650304	650836	E073	43865
chr9	650892	651134	E073	44453
chr9	653610	653690	E073	47171
chr9	655724	656365	E073	49285
chr9	562439	562642	E074	-43797
chr9	569032	570658	E074	-35781
chr9	570713	570786	E074	-35653
chr9	570925	570999	E074	-35440
chr9	571096	571215	E074	-35224
chr9	571221	571532	E074	-34907
chr9	572958	573162	E074	-33277
chr9	573583	574603	E074	-31836
chr9	588968	589039	E074	-17400
chr9	589168	589389	E074	-17050
chr9	589520	589584	E074	-16855
chr9	589600	590159	E074	-16280
chr9	590160	590507	E074	-15932
chr9	591279	591734	E074	-14705
chr9	591999	592597	E074	-13842
chr9	596434	596484	E074	-9955
chr9	613610	614810	E074	7171
chr9	614921	614971	E074	8482
chr9	614997	615051	E074	8558
chr9	617361	617943	E074	10922
chr9	618781	618874	E074	12342
chr9	619108	619185	E074	12669
chr9	619431	619591	E074	12992
chr9	624857	624934	E074	18418
chr9	624987	625545	E074	18548
chr9	625570	625630	E074	19131
chr9	625687	625737	E074	19248
chr9	625760	625951	E074	19321
chr9	625970	626215	E074	19531
chr9	626378	626418	E074	19939
chr9	626554	626692	E074	20115
chr9	626731	626962	E074	20292
chr9	627032	627454	E074	20593
chr9	627620	627910	E074	21181
chr9	628077	628139	E074	21638
chr9	628176	628272	E074	21737
chr9	628389	628472	E074	21950
chr9	649464	649952	E074	43025
chr9	650304	650836	E074	43865
chr9	650892	651134	E074	44453
chr9	651529	651665	E074	45090
chr9	653610	653690	E074	47171
chr9	653720	653818	E074	47281
chr9	653929	654041	E074	47490
chr9	654174	654375	E074	47735
chr9	655724	656365	E074	49285
chr9	649464	649952	E081	43025
chr9	649464	649952	E082	43025
chr9	650304	650836	E082	43865