SNP Detail Info-rs7251890

Organism: Homo sapiens

Alleles: A>C

Gene : Feature

None

p-value: Check p-value

Variation Type: SNV (Single Nucleotide Variation)

Frequency:

C=0261 (7834/29916,GnomAD)
C=0252 (7343/29118,TOPMED)
C=0206 (1034/5008,1000G)
C=0236 (908/3854,ALSPAC)
C=0234 (866/3708,TWINSUK)

Position: chr19:15961227 (GRCh38.p7) (19p13.12)

Phenotype: AD

Dataset:

GWASdb2

Publications: 1 publication(s)

Genomic View: See rs on genome

Enhancer: 13 Enhancers around

Promoter: 13 Promoters around

Sequence Name	Change(s)
GRCh38.p7 chr 19	NC_000019.10:g.15961227A>C
GRCh37.p13 chr 19	NC_000019.9:g.16072037A>C

Study	Population	Group	Sample #	Ref Allele	Alt Allele
1000Genomes	African	Sub	1322	A=0.661	C=0.339
1000Genomes	American	Sub	694	A=0.830	C=0.170
1000Genomes	East Asian	Sub	1008	A=0.948	C=0.052
1000Genomes	Europe	Sub	1006	A=0.737	C=0.263
1000Genomes	Global	Study-wide	5008	A=0.794	C=0.206
1000Genomes	South Asian	Sub	978	A=0.840	C=0.160
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	A=0.764	C=0.236
The Genome Aggregation Database	African	Sub	8704	A=0.691	C=0.309
The Genome Aggregation Database	American	Sub	838	A=0.840	C=0.160
The Genome Aggregation Database	East Asian	Sub	1618	A=0.918	C=0.082
The Genome Aggregation Database	Europe	Sub	18458	A=0.739	C=0.260
The Genome Aggregation Database	Global	Study-wide	29916	A=0.738	C=0.261
The Genome Aggregation Database	Other	Sub	298	A=0.770	C=0.230
Trans-Omics for Precision Medicine	Global	Study-wide	29118	A=0.747	C=0.252
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	A=0.766	C=0.234

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
rs7251890	0.000626	alcohol dependence	24277619

Position (v37)	eGene	GeneID	Variant	p-value	TSS	Tissue
Chr19:16072037	CYP4F11	ENSG00000171903.12	A>C	5.4998e-5	26360	Cerebellum

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

Chromosome	Start	End	Region	Distance ( -/+ : Up/Downstream )
chr19	16041637	16041689	E067	-30348
chr19	16041707	16041777	E067	-30260
chr19	16045307	16046252	E067	-25785
chr19	16045307	16046252	E069	-25785
chr19	16113669	16113781	E069	41632
chr19	16045307	16046252	E071	-25785
chr19	16045307	16046252	E072	-25785
chr19	16041637	16041689	E073	-30348
chr19	16041707	16041777	E073	-30260
chr19	16041637	16041689	E074	-30348
chr19	16041707	16041777	E074	-30260
chr19	16045307	16046252	E074	-25785
chr19	16083406	16083599	E081	11369

Chromosome	Start	End	Region	Distance(-/+:Up/Downstream)
chr19	16044811	16044861	E068	-27176
chr19	16112624	16113302	E068	40587
chr19	16112624	16113302	E069	40587
chr19	16022441	16022663	E070	-49374
chr19	16022761	16022912	E070	-49125
chr19	16112624	16113302	E071	40587
chr19	16112624	16113302	E072	40587
chr19	16044811	16044861	E073	-27176
chr19	16112624	16113302	E073	40587
chr19	16044811	16044861	E074	-27176
chr19	16112624	16113302	E074	40587
chr19	16022441	16022663	E082	-49374
chr19	16022761	16022912	E082	-49125

rs7251890