SNP Detail Info-rs1109501

Organism: Homo sapiens

Alleles: G>A

Gene : Feature

MUC7 : Intron Variant

p-value: Check p-value

Variation Type: SNV (Single Nucleotide Variation)

Frequency:

A=0215 (6439/29900,GnomAD)
A=0211 (6144/29118,TOPMED)
A=0248 (1242/5008,1000G)
A=0249 (959/3854,ALSPAC)
A=0269 (996/3708,TWINSUK)

Position: chr4:70463773 (GRCh38.p7) (4q13.3)

Phenotype: AD

Dataset:

GWASdb2 | GWASCatalog

Publications: 1 publication(s)

Genomic View: See rs on genome

Enhancer: 0 Enhancer around

Promoter: 0 Promoter around

Molecule type	Change	Amino acid[Codon]	SO Term
MUC7 transcript variant 1	NM_001145006.1:c.	N/A	Intron Variant
MUC7 transcript variant 2	NM_001145007.1:c.	N/A	Genic Upstream Transcript Variant
MUC7 transcript variant 3	NM_152291.2:c.	N/A	Genic Upstream Transcript Variant

Study	Population	Group	Sample #	Ref Allele	Alt Allele
1000Genomes	African	Sub	1322	G=0.937	A=0.063
1000Genomes	American	Sub	694	G=0.740	A=0.260
1000Genomes	East Asian	Sub	1008	G=0.611	A=0.389
1000Genomes	Europe	Sub	1006	G=0.713	A=0.287
1000Genomes	Global	Study-wide	5008	G=0.752	A=0.248
1000Genomes	South Asian	Sub	978	G=0.700	A=0.300
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	G=0.751	A=0.249
The Genome Aggregation Database	African	Sub	8704	G=0.905	A=0.095
The Genome Aggregation Database	American	Sub	838	G=0.700	A=0.300
The Genome Aggregation Database	East Asian	Sub	1590	G=0.606	A=0.394
The Genome Aggregation Database	Europe	Sub	18466	G=0.751	A=0.249
The Genome Aggregation Database	Global	Study-wide	29900	G=0.784	A=0.215
The Genome Aggregation Database	Other	Sub	302	G=0.550	A=0.450
Trans-Omics for Precision Medicine	Global	Study-wide	29118	G=0.789	A=0.211
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	G=0.731	A=0.269

PMID	Title	Author	Journal
21529783	A quantitative-trait genome-wide association study of alcoholism risk in the community: findings and implications.	Heath AC	Biol Psychiatry

SNP ID	p-value	Traits	Study
rs1109501	0.000005	alcoholism (heaviness of drinking)	21529783
rs1109501	5.00E-06	alcohol dependence	21529783

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

rs1109501