SNP Detail Info-rs6044991

Organism: Homo sapiens

Alleles: A>G

Gene : Feature

None

p-value: Check p-value

Variation Type: SNV (Single Nucleotide Variation)

Frequency:

A==0086 (2589/29938,GnomAD)
A==0113 (3293/29118,TOPMED)
A==0094 (470/5008,1000G)
A==0037 (141/3854,ALSPAC)
A==0042 (156/3708,TWINSUK)

Position: chr20:17746038 (GRCh38.p7) (20p12.1)

Phenotype: AD

Dataset:

GWASdb2

Publications: 1 publication(s)

Genomic View: See rs on genome

Enhancer: 19 Enhancers around

Promoter: 0 Promoter around

Sequence Name	Change(s)
GRCh38.p7 chr 20	NC_000020.11:g.17746038A>G
GRCh37.p13 chr 20	NC_000020.10:g.17726683A>G

Study	Population	Group	Sample #	Ref Allele	Alt Allele
1000Genomes	African	Sub	1322	A=0.219	G=0.781
1000Genomes	American	Sub	694	A=0.120	G=0.880
1000Genomes	East Asian	Sub	1008	A=0.022	G=0.978
1000Genomes	Europe	Sub	1006	A=0.049	G=0.951
1000Genomes	Global	Study-wide	5008	A=0.094	G=0.906
1000Genomes	South Asian	Sub	978	A=0.020	G=0.980
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	A=0.037	G=0.963
The Genome Aggregation Database	African	Sub	8686	A=0.195	G=0.805
The Genome Aggregation Database	American	Sub	836	A=0.110	G=0.890
The Genome Aggregation Database	East Asian	Sub	1622	A=0.019	G=0.981
The Genome Aggregation Database	Europe	Sub	18492	A=0.041	G=0.958
The Genome Aggregation Database	Global	Study-wide	29938	A=0.086	G=0.913
The Genome Aggregation Database	Other	Sub	302	A=0.020	G=0.980
Trans-Omics for Precision Medicine	Global	Study-wide	29118	A=0.113	G=0.886
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	A=0.042	G=0.958

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
rs6044991	9.6E-05	alcoholism (heaviness of drinking)	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

Chromosome	Start	End	Region	Distance ( -/+ : Up/Downstream )
chr20	17774784	17774991	E067	48101
chr20	17775116	17775367	E067	48433
chr20	17774784	17774991	E068	48101
chr20	17775116	17775367	E068	48433
chr20	17774513	17774635	E069	47830
chr20	17774784	17774991	E069	48101
chr20	17775116	17775367	E069	48433
chr20	17695211	17695251	E070	-31432
chr20	17695388	17695556	E070	-31127
chr20	17774513	17774635	E071	47830
chr20	17774784	17774991	E071	48101
chr20	17775116	17775367	E071	48433
chr20	17774784	17774991	E072	48101
chr20	17775116	17775367	E072	48433
chr20	17775536	17775633	E072	48853
chr20	17775748	17775894	E072	49065
chr20	17774784	17774991	E074	48101
chr20	17775116	17775367	E074	48433
chr20	17702313	17703217	E081	-23466

rs6044991