rs12463177

Organism: Homo sapiens

Alleles: G>A / G>C

Gene : Feature

DOCK6 : Intron Variant

p-value: Check p-value

Variation Type: SNV (Single Nucleotide Variation)

Frequency:

C=0151 (4534/29894,GnomAD)
C=0173 (864/5008,1000G)

Position: chr19:11231004 (GRCh38.p7) (19p13.2)

Phenotype: AD

Dataset:

GWASdb2

Publications: 1 publication(s)

Genomic View: See rs on genome

Enhancer: 37 Enhancers around

Promoter: 33 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 X5	XM_006722804.3: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 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	G=0.803	A=0.001
1000Genomes	American	Sub	694	G=0.800	A=0.01,
1000Genomes	East Asian	Sub	1008	G=0.773	A=0.000
1000Genomes	Europe	Sub	1006	G=0.870	A=0.041
1000Genomes	Global	Study-wide	5008	G=0.813	A=0.014
1000Genomes	South Asian	Sub	978	G=0.820	A=0.03,
The Genome Aggregation Database	African	Sub	8700	G=0.815	C=0.178
The Genome Aggregation Database	American	Sub	838	G=0.740	C=0.24,
The Genome Aggregation Database	East Asian	Sub	1616	G=0.723	C=0.277
The Genome Aggregation Database	Europe	Sub	18438	G=0.837	C=0.125
The Genome Aggregation Database	Global	Study-wide	29894	G=0.823	C=0.151
The Genome Aggregation Database	Other	Sub	302	G=0.930	C=0.05,

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
rs12463177	0.000155	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

There is no significant Hi-C chromatin interaction data for this SNP.

Chromosome	Start	End	Region	Distance ( -/+ : Up/Downstream )
chr19	35452737	35452801	E067	-17427
chr19	35452862	35452951	E067	-17277
chr19	35463796	35463846	E068	-6382
chr19	35463874	35464615	E068	-5613
chr19	35485148	35485464	E068	14920
chr19	35492997	35493229	E068	22769
chr19	35463874	35464615	E069	-5613
chr19	35489602	35489703	E069	19374
chr19	35452737	35452801	E070	-17427
chr19	35452862	35452951	E070	-17277
chr19	35493602	35494852	E070	23374
chr19	35452737	35452801	E071	-17427
chr19	35452862	35452951	E071	-17277
chr19	35463874	35464615	E071	-5613
chr19	35476225	35476994	E071	5997
chr19	35503608	35503677	E071	33380
chr19	35503729	35503799	E071	33501
chr19	35503846	35504610	E071	33618
chr19	35509825	35509988	E071	39597
chr19	35463874	35464615	E072	-5613
chr19	35464719	35464772	E072	-5456
chr19	35464849	35465069	E072	-5159
chr19	35452737	35452801	E073	-17427
chr19	35452862	35452951	E073	-17277
chr19	35492997	35493229	E073	22769
chr19	35463874	35464615	E074	-5613
chr19	35503608	35503677	E074	33380
chr19	35503729	35503799	E074	33501
chr19	35503846	35504610	E074	33618
chr19	35452737	35452801	E081	-17427
chr19	35452862	35452951	E081	-17277
chr19	35489602	35489703	E081	19374
chr19	35492997	35493229	E081	22769
chr19	35493602	35494852	E081	23374
chr19	35493602	35494852	E082	23374
chr19	35494979	35495033	E082	24751
chr19	35495060	35495146	E082	24832

Chromosome	Start	End	Region	Distance(-/+:Up/Downstream)
chr19	35454690	35455472	E067	-14756
chr19	35489709	35491539	E067	19481
chr19	35491568	35492531	E067	21340
chr19	35454690	35455472	E068	-14756
chr19	35455525	35455565	E068	-14663
chr19	35489709	35491539	E068	19481
chr19	35491568	35492531	E068	21340
chr19	35454690	35455472	E069	-14756
chr19	35489709	35491539	E069	19481
chr19	35491568	35492531	E069	21340
chr19	35454690	35455472	E070	-14756
chr19	35455525	35455565	E070	-14663
chr19	35489709	35491539	E070	19481
chr19	35491568	35492531	E070	21340
chr19	35454690	35455472	E071	-14756
chr19	35489709	35491539	E071	19481
chr19	35491568	35492531	E071	21340
chr19	35454690	35455472	E072	-14756
chr19	35489709	35491539	E072	19481
chr19	35491568	35492531	E072	21340
chr19	35454690	35455472	E073	-14756
chr19	35489709	35491539	E073	19481
chr19	35491568	35492531	E073	21340
chr19	35454690	35455472	E074	-14756
chr19	35489709	35491539	E074	19481
chr19	35491568	35492531	E074	21340
chr19	35454690	35455472	E081	-14756
chr19	35489709	35491539	E081	19481
chr19	35491568	35492531	E081	21340
chr19	35454690	35455472	E082	-14756
chr19	35455525	35455565	E082	-14663
chr19	35489709	35491539	E082	19481
chr19	35491568	35492531	E082	21340