Rs157580

From SNPedia

Jump to: navigation, search

Gene

Chromosome

19

plus

Position

45395266

Reference

GRCh37 37.1/131

?	(A;A) (A;G) (G;G)	28

GWAS snp
PMID	[PMID 19125160]
Trait	Alzheimer's disease
Title	Examination of the current top candidate genes for AD in a genome-wide association study
Risk Allele
P-val	1E-40
Odds Ratio	NR NR

GWAS snp
PMID	[PMID 19060911]
Trait	HDL cholesterol
Title	Loci influencing lipid levels and coronary heart disease risk in 16 European population cohorts
Risk Allele	G
P-val	4E-7
Odds Ratio	0.06 [NR] SD increase

GWAS snp
PMID	[PMID 19060910]
Trait	LDL cholesterol
Title	Genome-wide association analysis of metabolic traits in a birth cohort from a founder population
Risk Allele	G
P-val	5E-8
Odds Ratio	0.11 [0.07-0.15] mmol/l decrease

PharmGKB	PA164740215
Name
Annotation	GWAS results: Loci influencing lipid levels and coronary heart disease risk in 16 European population cohorts. (Initial Sample Size: 17,797 individuals; Replication Sample Size: NR); (Region: 19q13.32; Reported Gene(s): TOMM40, APOE; Risk Allele: rs157580-G); (p-value= 2E-19).This variant is associated with LDL cholesterol.
Gene	TOMM40
Featue
Evidence	PubMed ID:19060911; Web Resource:http://www.genome.gov/gwastudies/
Drugs
Diseases
Curation Level	Non-Curated

The G allele of this SNP in the TOMM40 gene may be associated with late-onset Alzheimer's disease.

PharmGKB	PA164740075
Name
Annotation	GWAS results: Examination of the current top candidate genes for AD in a genome-wide association study. (Initial Sample Size: 491 cases, 479 controls; Replication Sample Size: NR); (Region: 19q13.32; Reported Gene(s): TOMM40, APOE; Risk Allele: rs157580-?); (p-value= 1E-40).This variant is associated with Alzheimer's disease.
Gene	TOMM40
Featue
Evidence	PubMed ID:19125160; Web Resource:http://www.genome.gov/gwastudies/
Drugs
Diseases	Alzheimer Disease
Curation Level	Non-Curated

PharmGKB	PA164740277
Name
Annotation	GWAS results: Genome-wide association analysis of metabolic traits in a birth cohort from a founder population. (Initial Sample Size: 4,763 individuals; Replication Sample Size: NR); (Region: 19q13.32; Reported Gene(s): APO cluster; Risk Allele: rs157580-G); (p-value= 0.00000005).This variant is associated with LDL cholesterol.
Gene	TOMM40
Featue
Evidence	PubMed ID:19060910; Web Resource:http://www.genome.gov/gwastudies/
Drugs
Diseases
Curation Level	Non-Curated

PharmGKB	PA164740208
Name
Annotation	GWAS results: Loci influencing lipid levels and coronary heart disease risk in 16 European population cohorts. (Initial Sample Size: 21,412 individuals; Replication Sample Size: NR); (Region: 19q13.32; Reported Gene(s): TOMM40, APOE; Risk Allele: rs157580-G); (p-value= 0.0000004).This variant is associated with HDL cholesterol.
Gene	TOMM40
Featue
Evidence	PubMed ID:19060911; Web Resource:http://www.genome.gov/gwastudies/
Drugs
Diseases
Curation Level	Non-Curated

GWAS snp
PMID	[PMID 21123754]
Trait
Title	Genome-wide association study of CSF biomarkers A{beta}1-42, t-tau, and p-tau181p in the ADNI cohort.
Risk Allele
P-val	0.000001
Odds Ratio	None None

GWAS snp
PMID	[PMID 21627779]
Trait
Title	The membrane-spanning 4-domains, subfamily A (MS4A) gene cluster contains a common variant associated with Alzheimer's disease.
Risk Allele
P-val	8E-89
Odds Ratio	1.6900 [NR]