SNP Detail Info-rs4293630

Organism: Homo sapiens

Alleles: A>G

Gene : Feature

None

p-value: Check p-value

Variation Type: SNV (Single Nucleotide Variation)

Frequency:

G=0134 (4029/29982,GnomAD)
G=0146 (4275/29116,TOPMED)
G=0140 (701/5008,1000G)
G=0140 (538/3854,ALSPAC)
G=0130 (483/3708,TWINSUK)

Position: chr21:46025877 (GRCh38.p7) (21q22.3)

Phenotype: AD

Dataset:

GWASdb2 | GWASCatalog

Publications: 1 publication(s)

Genomic View: See rs on genome

Enhancer: 19 Enhancers around

Promoter: 9 Promoters around

Sequence Name	Change(s)
GRCh38.p7 chr 21	NC_000021.9:g.46025877A>G
GRCh37.p13 chr 21	NC_000021.8:g.47445791A>G

Study	Population	Group	Sample #	Ref Allele	Alt Allele
1000Genomes	African	Sub	1322	A=0.846	G=0.154
1000Genomes	American	Sub	694	A=0.930	G=0.070
1000Genomes	East Asian	Sub	1008	A=0.898	G=0.102
1000Genomes	Europe	Sub	1006	A=0.869	G=0.131
1000Genomes	Global	Study-wide	5008	A=0.860	G=0.140
1000Genomes	South Asian	Sub	978	A=0.780	G=0.220
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	A=0.860	G=0.140
The Genome Aggregation Database	African	Sub	8732	A=0.847	G=0.153
The Genome Aggregation Database	American	Sub	836	A=0.930	G=0.070
The Genome Aggregation Database	East Asian	Sub	1622	A=0.906	G=0.094
The Genome Aggregation Database	Europe	Sub	18490	A=0.868	G=0.131
The Genome Aggregation Database	Global	Study-wide	29982	A=0.865	G=0.134
The Genome Aggregation Database	Other	Sub	302	A=0.820	G=0.180
Trans-Omics for Precision Medicine	Global	Study-wide	29116	A=0.853	G=0.146
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	A=0.870	G=0.130

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
rs4293630	0.000007	alcoholism (alcohol dependence factor score)	21529783
rs4293630	7.00E-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

Chromosome	Start	End	Region	Distance ( -/+ : Up/Downstream )
chr21	47400507	47400626	E069	-45165
chr21	47400629	47400689	E069	-45102
chr21	47487793	47487833	E070	42002
chr21	47400507	47400626	E071	-45165
chr21	47400629	47400689	E071	-45102
chr21	47400507	47400626	E074	-45165
chr21	47400629	47400689	E074	-45102
chr21	47396640	47396865	E081	-48926
chr21	47397765	47398698	E081	-47093
chr21	47400138	47400251	E081	-45540
chr21	47400507	47400626	E081	-45165
chr21	47400629	47400689	E081	-45102
chr21	47455778	47457527	E081	9987
chr21	47484835	47487767	E081	39044
chr21	47397765	47398698	E082	-47093
chr21	47400507	47400626	E082	-45165
chr21	47400629	47400689	E082	-45102
chr21	47430214	47430529	E082	-15262
chr21	47484835	47487767	E082	39044

Chromosome	Start	End	Region	Distance(-/+:Up/Downstream)
chr21	47400825	47403806	E067	-41985
chr21	47400825	47403806	E068	-41985
chr21	47400825	47403806	E069	-41985
chr21	47400825	47403806	E070	-41985
chr21	47400825	47403806	E071	-41985
chr21	47400825	47403806	E072	-41985
chr21	47400825	47403806	E073	-41985
chr21	47400825	47403806	E074	-41985
chr21	47400825	47403806	E082	-41985

rs4293630