SNP Detail Info-rs2035985

Organism: Homo sapiens

Alleles: C>T

Gene : Feature

None

p-value: Check p-value

Variation Type: SNV (Single Nucleotide Variation)

Frequency:

T=0248 (7401/29790,GnomAD)
T=0275 (8009/29118,TOPMED)
T=0214 (1072/5008,1000G)
T=0134 (518/3854,ALSPAC)
T=0145 (536/3708,TWINSUK)

Position: chr3:86506819 (GRCh38.p7) (3p12.1)

Phenotype: AD

Dataset:

GWASdb2

Publications: 1 publication(s)

Genomic View: See rs on genome

Enhancer: 0 Enhancer around

Promoter: 0 Promoter around

Sequence Name	Change(s)
GRCh38.p7 chr 3	NC_000003.12:g.86506819C>T
GRCh37.p13 chr 3	NC_000003.11:g.86555969C>T

Study	Population	Group	Sample #	Ref Allele	Alt Allele
1000Genomes	African	Sub	1322	C=0.534	T=0.466
1000Genomes	American	Sub	694	C=0.870	T=0.130
1000Genomes	East Asian	Sub	1008	C=0.933	T=0.067
1000Genomes	Europe	Sub	1006	C=0.843	T=0.157
1000Genomes	Global	Study-wide	5008	C=0.786	T=0.214
1000Genomes	South Asian	Sub	978	C=0.850	T=0.150
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	C=0.866	T=0.134
The Genome Aggregation Database	African	Sub	8676	C=0.546	T=0.454
The Genome Aggregation Database	American	Sub	828	C=0.850	T=0.150
The Genome Aggregation Database	East Asian	Sub	1562	C=0.944	T=0.056
The Genome Aggregation Database	Europe	Sub	18422	C=0.827	T=0.172
The Genome Aggregation Database	Global	Study-wide	29790	C=0.751	T=0.248
The Genome Aggregation Database	Other	Sub	302	C=0.800	T=0.200
Trans-Omics for Precision Medicine	Global	Study-wide	29118	C=0.724	T=0.275
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	C=0.855	T=0.145

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
rs2035985	0.000322	alcohol dependence	24277619

Position (v37)	eGene	GeneID	Variant	p-value	TSS	Tissue
Chr3:86555969	RP11-331K15.1	ENSG00000241328.1	C>T	6.5993e-17	24876	Cerebellar_Hemisphere

Probe ID	Position	Gene	beta	p-value
There is no meQTL annotation for this SNP

rs2035985