rs1026526

Organism: Homo sapiens

Alleles: A>G

Gene : Feature

KIF6 : Intron Variant

p-value: Check p-value

Variation Type: SNV (Single Nucleotide Variation)

Frequency:

G=0238 (7133/29912,GnomAD)
G=0251 (7314/29118,TOPMED)
G=0299 (1499/5008,1000G)
G=0170 (655/3854,ALSPAC)
G=0179 (662/3708,TWINSUK)

Position: chr6:39619981 (GRCh38.p7) (6p21.2)

Phenotype: AD

Dataset:

GWASdb2

Publications: 1 publication(s)

Genomic View: See rs on genome

Enhancer: 63 Enhancers around

Promoter: 0 Promoter around

Variant Details Frequency Publications p-values eSNP meSNP

Genomic Coordinates

Sequence Name	Change(s)
GRCh38.p7 chr 6	NC_000006.12:g.39619981A>G
GRCh37.p13 chr 6	NC_000006.11:g.39587757A>G

Gene: KIF6, kinesin family member 6(minus strand)

Molecule type	Change	Amino acid[Codon]	SO Term
KIF6 transcript variant 2	NM_001289020.1:c.	N/A	Intron Variant
KIF6 transcript variant 3	NM_001289021.1:c.	N/A	Intron Variant
KIF6 transcript variant 1	NM_145027.4:c.	N/A	Intron Variant
KIF6 transcript variant 4	NM_001289024.1:c.	N/A	Genic Upstream Transcript Variant
KIF6 transcript variant X1	XM_005248904.4:c.	N/A	Intron Variant
KIF6 transcript variant X2	XM_011514357.2:c.	N/A	Intron Variant
KIF6 transcript variant X3	XM_011514358.2:c.	N/A	Intron Variant
KIF6 transcript variant X4	XM_011514359.2:c.	N/A	Intron Variant
KIF6 transcript variant X8	XM_011514361.2:c.	N/A	Intron Variant
KIF6 transcript variant X5	XM_017010427.1:c.	N/A	Intron Variant
KIF6 transcript variant X6	XM_017010428.1:c.	N/A	Genic Upstream Transcript Variant
KIF6 transcript variant X7	XR_001743238.1:n.	N/A	Intron Variant

Population Frequency

Study	Population	Group	Sample #	Ref Allele	Alt Allele
1000Genomes	African	Sub	1322	A=0.644	G=0.356
1000Genomes	American	Sub	694	A=0.770	G=0.230
1000Genomes	East Asian	Sub	1008	A=0.627	G=0.373
1000Genomes	Europe	Sub	1006	A=0.836	G=0.164
1000Genomes	Global	Study-wide	5008	A=0.701	G=0.299
1000Genomes	South Asian	Sub	978	A=0.660	G=0.340
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	A=0.830	G=0.170
The Genome Aggregation Database	African	Sub	8702	A=0.683	G=0.317
The Genome Aggregation Database	American	Sub	836	A=0.710	G=0.290
The Genome Aggregation Database	East Asian	Sub	1590	A=0.563	G=0.437
The Genome Aggregation Database	Europe	Sub	18482	A=0.817	G=0.182
The Genome Aggregation Database	Global	Study-wide	29912	A=0.761	G=0.238
The Genome Aggregation Database	Other	Sub	302	A=0.790	G=0.210
Trans-Omics for Precision Medicine	Global	Study-wide	29118	A=0.748	G=0.251
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	A=0.821	G=0.179

PMID	Title	Author	Journal
24277619	ALDH2 is associated to alcohol dependence and is the major genetic determinant of "daily maximum drinks" in a GWAS study of an isolated rural Chinese sample.	Quillen EE	Am J Med Genet B Neuropsychiatr Genet

P-Value

SNP ID	p-value	Traits	Study
rs1026526	0.000232	alcohol consumption (maxi-drinks)	24277619

eQTL of rs1026526 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 rs1026526 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 )
chr6	39610024	39610399	E067	22267
chr6	39632091	39632172	E067	44334
chr6	39635474	39635592	E067	47717
chr6	39577415	39577676	E068	-10081
chr6	39585287	39585344	E068	-2413
chr6	39610024	39610399	E068	22267
chr6	39621479	39621641	E068	33722
chr6	39633413	39633479	E068	45656
chr6	39633685	39633759	E068	45928
chr6	39633793	39633870	E068	46036
chr6	39634977	39635211	E068	47220
chr6	39635474	39635592	E068	47717
chr6	39636716	39637544	E068	48959
chr6	39545167	39545811	E069	-41946
chr6	39577415	39577676	E069	-10081
chr6	39578096	39578382	E069	-9375
chr6	39610024	39610399	E069	22267
chr6	39617596	39618044	E069	29839
chr6	39621479	39621641	E069	33722
chr6	39633413	39633479	E069	45656
chr6	39633685	39633759	E069	45928
chr6	39633793	39633870	E069	46036
chr6	39634977	39635211	E069	47220
chr6	39636716	39637544	E069	48959
chr6	39545167	39545811	E070	-41946
chr6	39551059	39551257	E071	-36500
chr6	39584956	39585058	E071	-2699
chr6	39585117	39585183	E071	-2574
chr6	39585287	39585344	E071	-2413
chr6	39610024	39610399	E071	22267
chr6	39621479	39621641	E071	33722
chr6	39633413	39633479	E071	45656
chr6	39633685	39633759	E071	45928
chr6	39633793	39633870	E071	46036
chr6	39634977	39635211	E071	47220
chr6	39635474	39635592	E071	47717
chr6	39635909	39636161	E071	48152
chr6	39636716	39637544	E071	48959
chr6	39577415	39577676	E072	-10081
chr6	39578096	39578382	E072	-9375
chr6	39584956	39585058	E072	-2699
chr6	39585117	39585183	E072	-2574
chr6	39585287	39585344	E072	-2413
chr6	39621479	39621641	E072	33722
chr6	39633413	39633479	E072	45656
chr6	39633685	39633759	E072	45928
chr6	39633793	39633870	E072	46036
chr6	39551059	39551257	E074	-36500
chr6	39585287	39585344	E074	-2413
chr6	39586502	39586566	E074	-1191
chr6	39605412	39605602	E074	17655
chr6	39610024	39610399	E074	22267
chr6	39621479	39621641	E074	33722
chr6	39634977	39635211	E074	47220
chr6	39635474	39635592	E074	47717
chr6	39635909	39636161	E074	48152
chr6	39636201	39636344	E074	48444
chr6	39636716	39637544	E074	48959
chr6	39561642	39561723	E081	-26034
chr6	39578096	39578382	E081	-9375
chr6	39561642	39561723	E082	-26034
chr6	39562004	39562197	E082	-25560
chr6	39562230	39562445	E082	-25312