SNP Detail Info-rs454510

Organism: Homo sapiens

Alleles: A>G

Gene : Feature

None

p-value: Check p-value

Variation Type: SNV (Single Nucleotide Variation)

Frequency:

A==0225 (6750/29928,GnomAD)
A==0218 (6353/29118,TOPMED)
A==0210 (1051/5008,1000G)
A==0307 (1185/3854,ALSPAC)
A==0294 (1091/3708,TWINSUK)

Position: chr1:119652419 (GRCh38.p7) (1p12)

Phenotype: AD

Dataset:

GWASCatalog

Publications: 1 publication(s)

Genomic View: See rs on genome

Enhancer: 14 Enhancers around

Promoter: 18 Promoters around

Sequence Name	Change(s)
GRCh38.p7 chr 1	NC_000001.11:g.119652419A>G
GRCh37.p13 chr 1	NC_000001.10:g.120195042A>G

Study	Population	Group	Sample #	Ref Allele	Alt Allele
1000Genomes	African	Sub	1322	A=0.113	G=0.887
1000Genomes	American	Sub	694	A=0.260	G=0.740
1000Genomes	East Asian	Sub	1008	A=0.097	G=0.903
1000Genomes	Europe	Sub	1006	A=0.310	G=0.690
1000Genomes	Global	Study-wide	5008	A=0.210	G=0.790
1000Genomes	South Asian	Sub	978	A=0.320	G=0.680
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	A=0.307	G=0.693
The Genome Aggregation Database	African	Sub	8718	A=0.143	G=0.857
The Genome Aggregation Database	American	Sub	838	A=0.320	G=0.680
The Genome Aggregation Database	East Asian	Sub	1608	A=0.093	G=0.907
The Genome Aggregation Database	Europe	Sub	18462	A=0.269	G=0.730
The Genome Aggregation Database	Global	Study-wide	29928	A=0.225	G=0.774
The Genome Aggregation Database	Other	Sub	302	A=0.350	G=0.650
Trans-Omics for Precision Medicine	Global	Study-wide	29118	A=0.218	G=0.781
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	A=0.294	G=0.706

PMID	Title	Author	Journal
28714907	Genetic Contribution to Alcohol Dependence: Investigation of a Heterogeneous German Sample of Individuals with Alcohol Dependence, Chronic Alcoholic Pancreatitis, and Alcohol-Related Cirrhosis.	Treutlein J	Genes (Basel)

SNP ID	p-value	Traits	Study
rs454510	3E-06	alcohol dependence	28714907

Position (v37)	eGene	GeneID	Variant	p-value	TSS	Tissue
There is no eQTL annotation for this SNP

Probe ID	Position	Gene	beta	p-value
cg20485607	chr1:120217696		-0.117771546363211	6.6911e-20

Chromosome	Start	End	Region	Distance ( -/+ : Up/Downstream )
chr1	120154738	120154832	E068	-40210
chr1	120156432	120156886	E069	-38156
chr1	120175051	120175551	E070	-19491
chr1	120183025	120183105	E070	-11937
chr1	120183122	120183182	E070	-11860
chr1	120179956	120180214	E071	-14828
chr1	120180348	120180564	E071	-14478
chr1	120175051	120175551	E072	-19491
chr1	120154073	120154249	E073	-40793
chr1	120154278	120154682	E073	-40360
chr1	120175051	120175551	E073	-19491
chr1	120181416	120182069	E081	-12973
chr1	120175051	120175551	E082	-19491
chr1	120180348	120180564	E082	-14478

Chromosome	Start	End	Region	Distance(-/+:Up/Downstream)
chr1	120188223	120191558	E067	-3484
chr1	120191581	120191631	E067	-3411
chr1	120188223	120191558	E068	-3484
chr1	120191581	120191631	E068	-3411
chr1	120188223	120191558	E069	-3484
chr1	120191581	120191631	E069	-3411
chr1	120188223	120191558	E070	-3484
chr1	120191581	120191631	E070	-3411
chr1	120188223	120191558	E071	-3484
chr1	120188223	120191558	E072	-3484
chr1	120191581	120191631	E072	-3411
chr1	120188223	120191558	E073	-3484
chr1	120191581	120191631	E073	-3411
chr1	120188223	120191558	E074	-3484
chr1	120191581	120191631	E074	-3411
chr1	120188223	120191558	E081	-3484
chr1	120188223	120191558	E082	-3484
chr1	120191581	120191631	E082	-3411

rs454510