SNP Detail Info-rs4430250

Organism: Homo sapiens

Alleles: C>T

Gene : Feature

None

p-value: Check p-value

Variation Type: SNV (Single Nucleotide Variation)

Frequency:

T=0240 (4968/20626,GnomAD)
T=0259 (978/3775,1000G)
T=0258 (958/3708,TWINSUK)
T=0262 (756/2889,ALSPAC)

Position: chrX:116954224 (GRCh38.p7) (Xq23)

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 X	NC_000023.11:g.116954224C>T
GRCh37.p13 chr X	NC_000023.10:g.116088192C>T

Study	Population	Group	Sample #	Ref Allele	Alt Allele
1000Genomes	African	Sub	1003	C=0.787	T=0.213
1000Genomes	American	Sub	524	C=0.760	T=0.240
1000Genomes	East Asian	Sub	764	C=0.670	T=0.330
1000Genomes	Europe	Sub	766	C=0.770	T=0.230
1000Genomes	Global	Study-wide	3775	C=0.741	T=0.259
1000Genomes	South Asian	Sub	718	C=0.720	T=0.280
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	2889	C=0.738	T=0.262
The Genome Aggregation Database	African	Sub	5808	C=0.787	T=0.213
The Genome Aggregation Database	American	Sub	605	C=0.790	T=0.210
The Genome Aggregation Database	East Asian	Sub	980	C=0.680	T=0.320
The Genome Aggregation Database	Europe	Sub	13049	C=0.750	T=0.249
The Genome Aggregation Database	Global	Study-wide	20626	C=0.759	T=0.240
The Genome Aggregation Database	Other	Sub	184	C=0.800	T=0.200
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	C=0.742	T=0.258

PMID	Title	Author	Journal
20201924	Genome-wide association study of alcohol dependence implicates a region on chromosome 11.	Edenberg HJ	Alcohol Clin Exp Res

SNP ID	p-value	Traits	Study
rs4430250	0.000951	alcohol dependence	20201924

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

rs4430250