SNP Detail Info-rs10477601

Organism: Homo sapiens

Alleles: G>A

Gene : Feature

LOC105379145 : Intron Variant

p-value: Check p-value

Variation Type: SNV (Single Nucleotide Variation)

Frequency:

A=0087 (2615/29968,GnomAD)
A=0088 (2572/29118,TOPMED)
A=0078 (391/5008,1000G)
A=0078 (300/3854,ALSPAC)
A=0087 (324/3708,TWINSUK)

Position: chr5:120447866 (GRCh38.p7) (5q23.1)

Phenotype: AD

Dataset:

GWASdb2

Publications: 1 publication(s)

Genomic View: See rs on genome

Enhancer: 5 Enhancers around

Promoter: 29 Promoters around

Sequence Name	Change(s)
GRCh38.p7 chr 5	NC_000005.10:g.120447866G>A
GRCh37.p13 chr 5	NC_000005.9:g.119783561G>A

Molecule type	Change	Amino acid[Codon]	SO Term
LOC105379145 transcript variant X2	XR_001742861.1:n.	N/A	Intron Variant
LOC105379145 transcript variant X1	XR_948708.2:n.	N/A	Intron Variant

Study	Population	Group	Sample #	Ref Allele	Alt Allele
1000Genomes	African	Sub	1322	G=0.860	A=0.140
1000Genomes	American	Sub	694	G=0.940	A=0.060
1000Genomes	East Asian	Sub	1008	G=0.980	A=0.020
1000Genomes	Europe	Sub	1006	G=0.918	A=0.082
1000Genomes	Global	Study-wide	5008	G=0.922	A=0.078
1000Genomes	South Asian	Sub	978	G=0.940	A=0.060
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	G=0.922	A=0.078
The Genome Aggregation Database	African	Sub	8726	G=0.881	A=0.119
The Genome Aggregation Database	American	Sub	838	G=0.950	A=0.050
The Genome Aggregation Database	East Asian	Sub	1618	G=0.972	A=0.028
The Genome Aggregation Database	Europe	Sub	18484	G=0.921	A=0.078
The Genome Aggregation Database	Global	Study-wide	29968	G=0.912	A=0.087
The Genome Aggregation Database	Other	Sub	302	G=0.920	A=0.080
Trans-Omics for Precision Medicine	Global	Study-wide	29118	G=0.911	A=0.088
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	G=0.913	A=0.087

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
rs10477601	6.31E-05	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 )
chr5	119798828	119799389	E068	15267
chr5	119798828	119799389	E069	15267
chr5	119798828	119799389	E071	15267
chr5	119798828	119799389	E074	15267
chr5	119798828	119799389	E081	15267

Chromosome	Start	End	Region	Distance(-/+:Up/Downstream)
chr5	119799407	119799500	E067	15846
chr5	119799507	119801934	E067	15946
chr5	119802039	119802178	E067	18478
chr5	119802184	119802382	E067	18623
chr5	119799407	119799500	E068	15846
chr5	119799507	119801934	E068	15946
chr5	119802039	119802178	E068	18478
chr5	119802184	119802382	E068	18623
chr5	119793604	119794213	E069	10043
chr5	119799507	119801934	E069	15946
chr5	119799407	119799500	E070	15846
chr5	119799507	119801934	E070	15946
chr5	119793604	119794213	E071	10043
chr5	119799407	119799500	E071	15846
chr5	119799507	119801934	E071	15946
chr5	119799507	119801934	E072	15946
chr5	119802039	119802178	E072	18478
chr5	119802184	119802382	E072	18623
chr5	119799507	119801934	E073	15946
chr5	119802039	119802178	E073	18478
chr5	119802184	119802382	E073	18623
chr5	119799407	119799500	E074	15846
chr5	119799507	119801934	E074	15946
chr5	119799407	119799500	E081	15846
chr5	119799507	119801934	E081	15946
chr5	119799407	119799500	E082	15846
chr5	119799507	119801934	E082	15946
chr5	119802039	119802178	E082	18478
chr5	119802184	119802382	E082	18623

rs10477601