SNP Detail Info-rs57558300

Organism: Homo sapiens

Alleles: A>G

Gene : Feature

LOC105370217 : Intron Variant

p-value: Check p-value

Variation Type: SNV (Single Nucleotide Variation)

Frequency:

G=0163 (4894/29944,GnomAD)
G=0148 (4324/29116,TOPMED)
G=0142 (711/5008,1000G)
G=0161 (622/3854,ALSPAC)
G=0178 (660/3708,TWINSUK)

Position: chr13:57466458 (GRCh38.p7) (13q21.1)

Phenotype: AD

Dataset:

GWASdb2

Publications: 1 publication(s)

Genomic View: See rs on genome

Enhancer: 2 Enhancers around

Promoter: 0 Promoter around

Sequence Name	Change(s)
GRCh38.p7 chr 13	NC_000013.11:g.57466458A>G
GRCh37.p13 chr 13	NC_000013.10:g.58040592A>G

Molecule type	Change	Amino acid[Codon]	SO Term
LOC105370217 transcript	XR_941983.1:n.	N/A	Intron Variant

Study	Population	Group	Sample #	Ref Allele	Alt Allele
1000Genomes	African	Sub	1322	A=0.868	G=0.132
1000Genomes	American	Sub	694	A=0.930	G=0.070
1000Genomes	East Asian	Sub	1008	A=0.783	G=0.217
1000Genomes	Europe	Sub	1006	A=0.832	G=0.168
1000Genomes	Global	Study-wide	5008	A=0.858	G=0.142
1000Genomes	South Asian	Sub	978	A=0.900	G=0.100
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	A=0.839	G=0.161
The Genome Aggregation Database	African	Sub	8714	A=0.874	G=0.126
The Genome Aggregation Database	American	Sub	836	A=0.920	G=0.080
The Genome Aggregation Database	East Asian	Sub	1602	A=0.790	G=0.210
The Genome Aggregation Database	Europe	Sub	18490	A=0.818	G=0.181
The Genome Aggregation Database	Global	Study-wide	29944	A=0.836	G=0.163
The Genome Aggregation Database	Other	Sub	302	A=0.850	G=0.150
Trans-Omics for Precision Medicine	Global	Study-wide	29116	A=0.851	G=0.148
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	A=0.822	G=0.178

PMID	Title	Author	Journal
24962325	Genome-wide survival analysis of age at onset of alcohol dependence in extended high-risk COGA families.	Kapoor M	Drug Alcohol Depend

SNP ID	p-value	Traits	Study
rs57558300	5.68E-06	alcohol dependence (age at onset)	24962325

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 )
chr13	58025177	58025303	E081	-15289
chr13	58066691	58066859	E081	26099

rs57558300