SNP Detail Info-rs17699089

Organism: Homo sapiens

Alleles: A>G

Gene : Feature

DOCK6 : Intron Variant

p-value: Check p-value

Variation Type: SNV (Single Nucleotide Variation)

Frequency:

G=0151 (4517/29872,GnomAD)
G=0145 (4240/29118,TOPMED)
G=0173 (866/5008,1000G)
G=0103 (398/3854,ALSPAC)
G=0099 (368/3708,TWINSUK)

Position: chr19:11233119 (GRCh38.p7) (19p13.2)

Phenotype: AD

Dataset:

GWASdb2

Publications: 1 publication(s)

Genomic View: See rs on genome

Enhancer: 26 Enhancers around

Promoter: 23 Promoters around

Molecule type	Change	Amino acid[Codon]	SO Term
DOCK6 transcript	NM_020812.3:c.	N/A	Intron Variant
DOCK6 transcript variant X6	XM_005260000.2:c.	N/A	Intron Variant
DOCK6 transcript variant X3	XM_005260001.2:c.	N/A	Intron Variant
DOCK6 transcript variant X1	XM_011528150.1:c.	N/A	Intron Variant
DOCK6 transcript variant X2	XM_011528151.1:c.	N/A	Intron Variant
DOCK6 transcript variant X4	XM_011528152.1:c.	N/A	Intron Variant
DOCK6 transcript variant X5	XM_006722804.3:c.	N/A	5 Prime UTR Variant
DOCK6 transcript variant X6	XR_936196.2:n.	N/A	Intron Variant
DOCK6 transcript variant X7	XR_936197.2:n.	N/A	Intron Variant
DOCK6 transcript variant X8	XR_936198.2:n.	N/A	Intron Variant

Study	Population	Group	Sample #	Ref Allele	Alt Allele
1000Genomes	African	Sub	1322	A=0.806	G=0.194
1000Genomes	American	Sub	694	A=0.810	G=0.190
1000Genomes	East Asian	Sub	1008	A=0.768	G=0.232
1000Genomes	Europe	Sub	1006	A=0.912	G=0.088
1000Genomes	Global	Study-wide	5008	A=0.827	G=0.173
1000Genomes	South Asian	Sub	978	A=0.840	G=0.160
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	A=0.897	G=0.103
The Genome Aggregation Database	African	Sub	8694	A=0.823	G=0.177
The Genome Aggregation Database	American	Sub	836	A=0.750	G=0.250
The Genome Aggregation Database	East Asian	Sub	1604	A=0.724	G=0.276
The Genome Aggregation Database	Europe	Sub	18436	A=0.874	G=0.125
The Genome Aggregation Database	Global	Study-wide	29872	A=0.848	G=0.151
The Genome Aggregation Database	Other	Sub	302	A=0.950	G=0.050
Trans-Omics for Precision Medicine	Global	Study-wide	29118	A=0.854	G=0.145
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	A=0.901	G=0.099

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

SNP ID	p-value	Traits	Study
rs17699089	0.00014	alcohol consumption	23743675

Position (v37)	eGene	GeneID	Variant	p-value	TSS	Tissue
There is no eQTL annotation for this SNP

Probe ID	Position	Gene	beta	p-value
There is no meQTL annotation for this SNP

Chromosome	Start	End	Region	Distance ( -/+ : Up/Downstream )
chr19	11373908	11374000	E067	30113
chr19	11385765	11386042	E067	41970
chr19	11386049	11386267	E067	42254
chr19	11313063	11315201	E069	-28594
chr19	11378604	11378708	E069	34809
chr19	11313063	11315201	E071	-28594
chr19	11315301	11316083	E071	-27712
chr19	11385765	11386042	E071	41970
chr19	11386049	11386267	E071	42254
chr19	11309055	11309282	E072	-34513
chr19	11309450	11309507	E072	-34288
chr19	11309591	11309978	E072	-33817
chr19	11309983	11310186	E072	-33609
chr19	11313063	11315201	E072	-28594
chr19	11315301	11316083	E072	-27712
chr19	11385765	11386042	E072	41970
chr19	11309055	11309282	E073	-34513
chr19	11313063	11315201	E073	-28594
chr19	11315301	11316083	E073	-27712
chr19	11359409	11359490	E073	15614
chr19	11366777	11367336	E073	22982
chr19	11304419	11304473	E074	-39322
chr19	11304538	11304596	E074	-39199
chr19	11385765	11386042	E074	41970
chr19	11386049	11386267	E074	42254
chr19	11353813	11354843	E081	10018

Chromosome	Start	End	Region	Distance(-/+:Up/Downstream)
chr19	11307057	11307237	E067	-36558
chr19	11307271	11309053	E067	-34742
chr19	11371964	11373729	E067	28169
chr19	11307057	11307237	E068	-36558
chr19	11307271	11309053	E068	-34742
chr19	11371964	11373729	E068	28169
chr19	11307057	11307237	E069	-36558
chr19	11307271	11309053	E069	-34742
chr19	11371964	11373729	E069	28169
chr19	11307271	11309053	E070	-34742
chr19	11307057	11307237	E071	-36558
chr19	11307271	11309053	E071	-34742
chr19	11371964	11373729	E071	28169
chr19	11307057	11307237	E072	-36558
chr19	11307271	11309053	E072	-34742
chr19	11371964	11373729	E072	28169
chr19	11307057	11307237	E073	-36558
chr19	11307271	11309053	E073	-34742
chr19	11371964	11373729	E073	28169
chr19	11307057	11307237	E074	-36558
chr19	11307271	11309053	E074	-34742
chr19	11371964	11373729	E074	28169
chr19	11307271	11309053	E082	-34742

rs17699089