rs10975395

Organism: Homo sapiens

Alleles: T>C

Gene : Feature

KANK1 : Intron Variant

p-value: Check p-value

Variation Type: SNV (Single Nucleotide Variation)

Frequency:

T==0279 (8365/29908,GnomAD)
T==0311 (9073/29116,TOPMED)
T==0354 (1772/5008,1000G)
T==0192 (741/3854,ALSPAC)
T==0186 (691/3708,TWINSUK)

Position: chr9:609829 (GRCh38.p7) (9p24.3)

Phenotype: AD

Dataset:

GWASdb2

Publications: 1 publication(s)

Genomic View: See rs on genome

Enhancer: 383 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.609829T>C
GRCh37.p13 chr 9	NC_000009.11:g.609829T>C
KANK1 RefSeqGene	NG_016331.2:g.144536T>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=0.418	C=0.582
1000Genomes	American	Sub	694	T=0.320	C=0.680
1000Genomes	East Asian	Sub	1008	T=0.558	C=0.442
1000Genomes	Europe	Sub	1006	T=0.214	C=0.786
1000Genomes	Global	Study-wide	5008	T=0.354	C=0.646
1000Genomes	South Asian	Sub	978	T=0.230	C=0.770
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	T=0.192	C=0.808
The Genome Aggregation Database	African	Sub	8692	T=0.370	C=0.630
The Genome Aggregation Database	American	Sub	836	T=0.280	C=0.720
The Genome Aggregation Database	East Asian	Sub	1614	T=0.613	C=0.387
The Genome Aggregation Database	Europe	Sub	18464	T=0.206	C=0.793
The Genome Aggregation Database	Global	Study-wide	29908	T=0.279	C=0.720
The Genome Aggregation Database	Other	Sub	302	T=0.360	C=0.640
Trans-Omics for Precision Medicine	Global	Study-wide	29116	T=0.311	C=0.688
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	T=0.186	C=0.814

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
rs10975395	0.000168	alcohol consumption	23743675

eQTL of rs10975395 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 rs10975395 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	560046	560243	E067	-49586
chr9	560348	560446	E067	-49383
chr9	560500	560550	E067	-49279
chr9	560701	560789	E067	-49040
chr9	560845	561205	E067	-48624
chr9	561468	561924	E067	-47905
chr9	562439	562642	E067	-47187
chr9	562912	563844	E067	-45985
chr9	563874	564064	E067	-45765
chr9	569032	570658	E067	-39171
chr9	570713	570786	E067	-39043
chr9	570925	570999	E067	-38830
chr9	571096	571215	E067	-38614
chr9	571221	571532	E067	-38297
chr9	571582	572115	E067	-37714
chr9	572958	573162	E067	-36667
chr9	573583	574603	E067	-35226
chr9	589168	589389	E067	-20440
chr9	589520	589584	E067	-20245
chr9	589600	590159	E067	-19670
chr9	590160	590507	E067	-19322
chr9	591279	591734	E067	-18095
chr9	591999	592597	E067	-17232
chr9	596434	596484	E067	-13345
chr9	611236	611286	E067	1407
chr9	611471	611521	E067	1642
chr9	613610	614810	E067	3781
chr9	614921	614971	E067	5092
chr9	614997	615051	E067	5168
chr9	625970	626215	E067	16141
chr9	626378	626418	E067	16549
chr9	626554	626692	E067	16725
chr9	626731	626962	E067	16902
chr9	627032	627454	E067	17203
chr9	649464	649952	E067	39635
chr9	650304	650836	E067	40475
chr9	650892	651134	E067	41063
chr9	651529	651665	E067	41700
chr9	652544	653408	E067	42715
chr9	653610	653690	E067	43781
chr9	653720	653818	E067	43891
chr9	655724	656365	E067	45895
chr9	656382	656488	E067	46553
chr9	656617	657549	E067	46788
chr9	560845	561205	E068	-48624
chr9	561468	561924	E068	-47905
chr9	562439	562642	E068	-47187
chr9	564319	564395	E068	-45434
chr9	564787	564837	E068	-44992
chr9	570713	570786	E068	-39043
chr9	570925	570999	E068	-38830
chr9	571096	571215	E068	-38614
chr9	571221	571532	E068	-38297
chr9	571582	572115	E068	-37714
chr9	573583	574603	E068	-35226
chr9	574613	574653	E068	-35176
chr9	574754	574818	E068	-35011
chr9	579663	579718	E068	-30111
chr9	589168	589389	E068	-20440
chr9	589520	589584	E068	-20245
chr9	589600	590159	E068	-19670
chr9	590160	590507	E068	-19322
chr9	590828	590904	E068	-18925
chr9	590966	591151	E068	-18678
chr9	591279	591734	E068	-18095
chr9	591999	592597	E068	-17232
chr9	608530	608829	E068	-1000
chr9	608920	609108	E068	-721
chr9	611236	611286	E068	1407
chr9	611471	611521	E068	1642
chr9	615882	615993	E068	6053
chr9	616662	617026	E068	6833
chr9	617361	617943	E068	7532
chr9	619108	619185	E068	9279
chr9	619431	619591	E068	9602
chr9	621214	621897	E068	11385
chr9	624987	625545	E068	15158
chr9	625570	625630	E068	15741
chr9	625687	625737	E068	15858
chr9	625760	625951	E068	15931
chr9	625970	626215	E068	16141
chr9	626378	626418	E068	16549
chr9	627032	627454	E068	17203
chr9	627620	627910	E068	17791
chr9	628077	628139	E068	18248
chr9	628176	628272	E068	18347
chr9	628389	628472	E068	18560
chr9	628480	628617	E068	18651
chr9	628640	628731	E068	18811
chr9	629215	629404	E068	19386
chr9	629442	629570	E068	19613
chr9	638055	638151	E068	28226
chr9	638197	638452	E068	28368
chr9	639026	639122	E068	29197
chr9	639186	639236	E068	29357
chr9	641365	641539	E068	31536
chr9	641793	641883	E068	31964
chr9	641977	642547	E068	32148
chr9	648430	649387	E068	38601
chr9	649464	649952	E068	39635
chr9	650304	650836	E068	40475
chr9	650892	651134	E068	41063
chr9	651529	651665	E068	41700
chr9	652544	653408	E068	42715
chr9	653610	653690	E068	43781
chr9	653720	653818	E068	43891
chr9	653929	654041	E068	44100
chr9	654174	654375	E068	44345
chr9	654561	654672	E068	44732
chr9	654773	655014	E068	44944
chr9	655724	656365	E068	45895
chr9	656382	656488	E068	46553
chr9	656617	657549	E068	46788
chr9	560348	560446	E069	-49383
chr9	560500	560550	E069	-49279
chr9	560701	560789	E069	-49040
chr9	560845	561205	E069	-48624
chr9	561468	561924	E069	-47905
chr9	562439	562642	E069	-47187
chr9	562912	563844	E069	-45985
chr9	563874	564064	E069	-45765
chr9	564319	564395	E069	-45434
chr9	564787	564837	E069	-44992
chr9	564856	564906	E069	-44923
chr9	564910	564998	E069	-44831
chr9	567283	567458	E069	-42371
chr9	567464	567885	E069	-41944
chr9	569032	570658	E069	-39171
chr9	570713	570786	E069	-39043
chr9	570925	570999	E069	-38830
chr9	571096	571215	E069	-38614
chr9	571221	571532	E069	-38297
chr9	571582	572115	E069	-37714
chr9	573583	574603	E069	-35226
chr9	588968	589039	E069	-20790
chr9	589168	589389	E069	-20440
chr9	589520	589584	E069	-20245
chr9	589600	590159	E069	-19670
chr9	590160	590507	E069	-19322
chr9	590828	590904	E069	-18925
chr9	590966	591151	E069	-18678
chr9	591279	591734	E069	-18095
chr9	596434	596484	E069	-13345
chr9	608530	608829	E069	-1000
chr9	608920	609108	E069	-721
chr9	610709	610872	E069	880
chr9	610900	610999	E069	1071
chr9	611236	611286	E069	1407
chr9	613610	614810	E069	3781
chr9	614921	614971	E069	5092
chr9	614997	615051	E069	5168
chr9	619431	619591	E069	9602
chr9	621214	621897	E069	11385
chr9	624987	625545	E069	15158
chr9	625570	625630	E069	15741
chr9	625687	625737	E069	15858
chr9	625760	625951	E069	15931
chr9	625970	626215	E069	16141
chr9	626378	626418	E069	16549
chr9	626554	626692	E069	16725
chr9	626731	626962	E069	16902
chr9	627032	627454	E069	17203
chr9	627620	627910	E069	17791
chr9	628077	628139	E069	18248
chr9	628176	628272	E069	18347
chr9	628389	628472	E069	18560
chr9	628480	628617	E069	18651
chr9	628640	628731	E069	18811
chr9	629215	629404	E069	19386
chr9	630950	631064	E069	21121
chr9	649464	649952	E069	39635
chr9	650304	650836	E069	40475
chr9	650892	651134	E069	41063
chr9	651529	651665	E069	41700
chr9	653610	653690	E069	43781
chr9	653720	653818	E069	43891
chr9	653929	654041	E069	44100
chr9	654174	654375	E069	44345
chr9	655500	655658	E069	45671
chr9	655724	656365	E069	45895
chr9	656382	656488	E069	46553
chr9	656617	657549	E069	46788
chr9	560046	560243	E071	-49586
chr9	560348	560446	E071	-49383
chr9	560500	560550	E071	-49279
chr9	560701	560789	E071	-49040
chr9	560845	561205	E071	-48624
chr9	561468	561924	E071	-47905
chr9	562439	562642	E071	-47187
chr9	564787	564837	E071	-44992
chr9	564856	564906	E071	-44923
chr9	564910	564998	E071	-44831
chr9	567283	567458	E071	-42371
chr9	567464	567885	E071	-41944
chr9	570713	570786	E071	-39043
chr9	570925	570999	E071	-38830
chr9	571096	571215	E071	-38614
chr9	571221	571532	E071	-38297
chr9	571582	572115	E071	-37714
chr9	572190	572355	E071	-37474
chr9	572408	572499	E071	-37330
chr9	572634	572717	E071	-37112
chr9	572958	573162	E071	-36667
chr9	573583	574603	E071	-35226
chr9	574613	574653	E071	-35176
chr9	574754	574818	E071	-35011
chr9	574933	575460	E071	-34369
chr9	578859	578948	E071	-30881
chr9	578963	579071	E071	-30758
chr9	588763	588891	E071	-20938
chr9	588968	589039	E071	-20790
chr9	589168	589389	E071	-20440
chr9	589520	589584	E071	-20245
chr9	589600	590159	E071	-19670
chr9	591279	591734	E071	-18095
chr9	591999	592597	E071	-17232
chr9	592742	592795	E071	-17034
chr9	592890	592970	E071	-16859
chr9	596434	596484	E071	-13345
chr9	608530	608829	E071	-1000
chr9	608920	609108	E071	-721
chr9	610633	610683	E071	804
chr9	610709	610872	E071	880
chr9	610900	610999	E071	1071
chr9	613610	614810	E071	3781
chr9	614921	614971	E071	5092
chr9	614997	615051	E071	5168
chr9	615455	615495	E071	5626
chr9	615882	615993	E071	6053
chr9	616662	617026	E071	6833
chr9	618535	618774	E071	8706
chr9	618781	618874	E071	8952
chr9	619108	619185	E071	9279
chr9	619431	619591	E071	9602
chr9	621214	621897	E071	11385
chr9	624857	624934	E071	15028
chr9	624987	625545	E071	15158
chr9	625570	625630	E071	15741
chr9	625687	625737	E071	15858
chr9	625760	625951	E071	15931
chr9	625970	626215	E071	16141
chr9	626378	626418	E071	16549
chr9	626554	626692	E071	16725
chr9	626731	626962	E071	16902
chr9	627032	627454	E071	17203
chr9	648430	649387	E071	38601
chr9	649464	649952	E071	39635
chr9	650304	650836	E071	40475
chr9	650892	651134	E071	41063
chr9	651529	651665	E071	41700
chr9	652544	653408	E071	42715
chr9	653610	653690	E071	43781
chr9	653720	653818	E071	43891
chr9	653929	654041	E071	44100
chr9	654174	654375	E071	44345
chr9	654561	654672	E071	44732
chr9	654773	655014	E071	44944
chr9	655027	655119	E071	45198
chr9	655724	656365	E071	45895
chr9	656382	656488	E071	46553
chr9	656617	657549	E071	46788
chr9	560845	561205	E072	-48624
chr9	561468	561924	E072	-47905
chr9	562439	562642	E072	-47187
chr9	562912	563844	E072	-45985
chr9	563874	564064	E072	-45765
chr9	564319	564395	E072	-45434
chr9	564787	564837	E072	-44992
chr9	564856	564906	E072	-44923
chr9	564910	564998	E072	-44831
chr9	569032	570658	E072	-39171
chr9	570713	570786	E072	-39043
chr9	570925	570999	E072	-38830
chr9	571096	571215	E072	-38614
chr9	571221	571532	E072	-38297
chr9	573583	574603	E072	-35226
chr9	574933	575460	E072	-34369
chr9	587598	587704	E072	-22125
chr9	589168	589389	E072	-20440
chr9	589520	589584	E072	-20245
chr9	589600	590159	E072	-19670
chr9	590160	590507	E072	-19322
chr9	591279	591734	E072	-18095
chr9	591999	592597	E072	-17232
chr9	596434	596484	E072	-13345
chr9	608530	608829	E072	-1000
chr9	608920	609108	E072	-721
chr9	611236	611286	E072	1407
chr9	613610	614810	E072	3781
chr9	619431	619591	E072	9602
chr9	624857	624934	E072	15028
chr9	624987	625545	E072	15158
chr9	625570	625630	E072	15741
chr9	625687	625737	E072	15858
chr9	625760	625951	E072	15931
chr9	625970	626215	E072	16141
chr9	626378	626418	E072	16549
chr9	626554	626692	E072	16725
chr9	626731	626962	E072	16902
chr9	627032	627454	E072	17203
chr9	627620	627910	E072	17791
chr9	637287	637489	E072	27458
chr9	649464	649952	E072	39635
chr9	650304	650836	E072	40475
chr9	650892	651134	E072	41063
chr9	651529	651665	E072	41700
chr9	652544	653408	E072	42715
chr9	653610	653690	E072	43781
chr9	653720	653818	E072	43891
chr9	653929	654041	E072	44100
chr9	654174	654375	E072	44345
chr9	573583	574603	E073	-35226
chr9	589600	590159	E073	-19670
chr9	613610	614810	E073	3781
chr9	615882	615993	E073	6053
chr9	616040	616350	E073	6211
chr9	621214	621897	E073	11385
chr9	624857	624934	E073	15028
chr9	624987	625545	E073	15158
chr9	625570	625630	E073	15741
chr9	625687	625737	E073	15858
chr9	625760	625951	E073	15931
chr9	625970	626215	E073	16141
chr9	626378	626418	E073	16549
chr9	626554	626692	E073	16725
chr9	626731	626962	E073	16902
chr9	627032	627454	E073	17203
chr9	650304	650836	E073	40475
chr9	650892	651134	E073	41063
chr9	653610	653690	E073	43781
chr9	655724	656365	E073	45895
chr9	656382	656488	E073	46553
chr9	656617	657549	E073	46788
chr9	562439	562642	E074	-47187
chr9	569032	570658	E074	-39171
chr9	570713	570786	E074	-39043
chr9	570925	570999	E074	-38830
chr9	571096	571215	E074	-38614
chr9	571221	571532	E074	-38297
chr9	572958	573162	E074	-36667
chr9	573583	574603	E074	-35226
chr9	588968	589039	E074	-20790
chr9	589168	589389	E074	-20440
chr9	589520	589584	E074	-20245
chr9	589600	590159	E074	-19670
chr9	590160	590507	E074	-19322
chr9	591279	591734	E074	-18095
chr9	591999	592597	E074	-17232
chr9	596434	596484	E074	-13345
chr9	613610	614810	E074	3781
chr9	614921	614971	E074	5092
chr9	614997	615051	E074	5168
chr9	617361	617943	E074	7532
chr9	618781	618874	E074	8952
chr9	619108	619185	E074	9279
chr9	619431	619591	E074	9602
chr9	624857	624934	E074	15028
chr9	624987	625545	E074	15158
chr9	625570	625630	E074	15741
chr9	625687	625737	E074	15858
chr9	625760	625951	E074	15931
chr9	625970	626215	E074	16141
chr9	626378	626418	E074	16549
chr9	626554	626692	E074	16725
chr9	626731	626962	E074	16902
chr9	627032	627454	E074	17203
chr9	627620	627910	E074	17791
chr9	628077	628139	E074	18248
chr9	628176	628272	E074	18347
chr9	628389	628472	E074	18560
chr9	649464	649952	E074	39635
chr9	650304	650836	E074	40475
chr9	650892	651134	E074	41063
chr9	651529	651665	E074	41700
chr9	653610	653690	E074	43781
chr9	653720	653818	E074	43891
chr9	653929	654041	E074	44100
chr9	654174	654375	E074	44345
chr9	655724	656365	E074	45895
chr9	656382	656488	E074	46553
chr9	649464	649952	E081	39635
chr9	649464	649952	E082	39635
chr9	650304	650836	E082	40475