SNP Detail Info-rs6884544

Organism: Homo sapiens

Alleles: A>G

Gene : Feature

CDH6 : Intron Variant

p-value: Check p-value

Variation Type: SNV (Single Nucleotide Variation)

Frequency:

A==0498 (14880/29878,GnomAD)
G=0450 (13108/29118,TOPMED)
G=0436 (2181/5008,1000G)
A==0480 (1848/3854,ALSPAC)
A==0477 (1770/3708,TWINSUK)

Position: chr5:31250481 (GRCh38.p7) (5p13.3)

Phenotype: AD

Dataset:

GWASdb2

Publications: 1 publication(s)

Genomic View: See rs on genome

Enhancer: 23 Enhancers around

Promoter: 16 Promoters around

Sequence Name	Change(s)
GRCh38.p7 chr 5	NC_000005.10:g.31250481A>G
GRCh37.p13 chr 5	NC_000005.9:g.31250588A>G

Molecule type	Change	Amino acid[Codon]	SO Term
CDH6 transcript variant 1	NM_004932.3:c.	N/A	Intron Variant
CDH6 transcript variant X1	XM_011513921.2:c.	N/A	Intron Variant
CDH6 transcript variant X3	XM_017008911.1:c.	N/A	Intron Variant
CDH6 transcript variant X2	XM_017008910.1:c.	N/A	Genic Upstream Transcript Variant
CDH6 transcript variant X4	XR_001741972.1:n.	N/A	Intron Variant

Study	Population	Group	Sample #	Ref Allele	Alt Allele
1000Genomes	African	Sub	1322	A=0.595	G=0.405
1000Genomes	American	Sub	694	A=0.550	G=0.450
1000Genomes	East Asian	Sub	1008	A=0.633	G=0.367
1000Genomes	Europe	Sub	1006	A=0.451	G=0.549
1000Genomes	Global	Study-wide	5008	A=0.564	G=0.436
1000Genomes	South Asian	Sub	978	A=0.580	G=0.420
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	A=0.480	G=0.520
The Genome Aggregation Database	African	Sub	8704	A=0.586	G=0.414
The Genome Aggregation Database	American	Sub	838	A=0.550	G=0.450
The Genome Aggregation Database	East Asian	Sub	1614	A=0.586	G=0.414
The Genome Aggregation Database	Europe	Sub	18422	A=0.446	G=0.553
The Genome Aggregation Database	Global	Study-wide	29878	A=0.498	G=0.502
The Genome Aggregation Database	Other	Sub	300	A=0.510	G=0.490
Trans-Omics for Precision Medicine	Global	Study-wide	29118	A=0.549	G=0.450
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	A=0.477	G=0.523

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

SNP ID	p-value	Traits	Study
rs6884544	0.000433	alcohol consumption (maxi-drinks)	24277619

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 )
chr5	31273597	31273647	E067	23009
chr5	31213609	31213679	E069	-36909
chr5	31214535	31214594	E069	-35994
chr5	31213609	31213679	E070	-36909
chr5	31214535	31214594	E074	-35994
chr5	31242204	31242293	E074	-8295
chr5	31200634	31200684	E081	-49904
chr5	31214535	31214594	E081	-35994
chr5	31227068	31227169	E081	-23419
chr5	31229898	31230045	E081	-20543
chr5	31230090	31230163	E081	-20425
chr5	31231191	31231266	E081	-19322
chr5	31237016	31237070	E081	-13518
chr5	31267090	31267643	E081	16502
chr5	31268438	31268629	E081	17850
chr5	31269484	31269599	E081	18896
chr5	31269857	31269907	E081	19269
chr5	31214535	31214594	E082	-35994
chr5	31229420	31229733	E082	-20855
chr5	31229898	31230045	E082	-20543
chr5	31230090	31230163	E082	-20425
chr5	31267090	31267643	E082	16502
chr5	31297939	31298028	E082	47351

Chromosome	Start	End	Region	Distance(-/+:Up/Downstream)
chr5	31213823	31214242	E067	-36346
chr5	31274276	31274345	E067	23688
chr5	31274393	31274661	E067	23805
chr5	31213823	31214242	E068	-36346
chr5	31274276	31274345	E068	23688
chr5	31274393	31274661	E068	23805
chr5	31213823	31214242	E069	-36346
chr5	31213823	31214242	E070	-36346
chr5	31213823	31214242	E071	-36346
chr5	31274276	31274345	E071	23688
chr5	31274393	31274661	E071	23805
chr5	31274276	31274345	E072	23688
chr5	31274393	31274661	E072	23805
chr5	31213823	31214242	E073	-36346
chr5	31213823	31214242	E074	-36346
chr5	31274276	31274345	E074	23688

rs6884544