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rs12678919

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common on affy axiom data
(A;G) 2 associated with higher HDL cholesterol
(G;G) 2 associated with higher HDL cholesterol
ReferenceGRCh38 38.1/141
Chromosome8
Position19986711
is asnp
is mentioned by
dbSNPrs12678919
ebirs12678919
HLIrs12678919
Exacrs12678919
Varsomers12678919
Maprs12678919
PheGenIrs12678919
hapmaprs12678919
1000 genomesrs12678919
hgdprs12678919
ensemblrs12678919
gopubmedrs12678919
geneviewrs12678919
scholarrs12678919
googlers12678919
pharmgkbrs12678919
gwascentralrs12678919
openSNPrs12678919
23andMers12678919
23andMe allrs12678919
SNP Nexus

SNPshotrs12678919
SNPdbers12678919
MSV3drs12678919
GWAS Ctlgrs12678919
GMAF0.101
Max Magnitude2
? (A;A) (A;G) (G;G) 28

G allele is associated with 2.44mg/dl increase in HDL cholesterol (good cholesterol). [PMID 18193043]

GWAS snp
PMID [PMID 19060906OA-icon.png]
Trait HDL cholesterol
Title Common variants at 30 loci contribute to polygenic dyslipidemia
Risk Allele G
P-val 2E-34
Odds Ratio 0.23 [0.17-0.29] SD increase



GWAS snp
PMID [PMID 20686565OA-icon.png]
Trait
Title Biological, clinical and population relevance of 95 loci for blood lipids.
Risk Allele G
P-val 0
Odds Ratio 13.6400 None

[PMID 19951432OA-icon.png] Analysis of recently identified dyslipidemia alleles reveals two loci that contribute to risk for carotid artery disease.

[PMID 20385819OA-icon.png] Genetic variants near TIMP3 and high-density lipoprotein-associated loci influence susceptibility to age-related macular degeneration.

[PMID 20385826OA-icon.png] Genome-wide association study of advanced age-related macular degeneration identifies a role of the hepatic lipase gene (LIPC).


GET Evidence
rs12678919
aa_change
aa_change_short
impact pathogenic
qualified_impact Insufficiently evaluated pathogenic
overall_frequency 0.0625
summary



GWAS snp
PMID [PMID 22916037OA-icon.png]
Trait Metabolite levels
Title Novel Loci for metabolic networks and multi-tissue expression studies reveal genes for atherosclerosis.
Risk Allele
P-val 9E-13
Odds Ratio NR NR


[PMID 24223199OA-icon.png] Association of HDL-Related Loci with Age-Related Macular Degeneration and Plasma Lutein and Zeaxanthin: the Alienor Study


[PMID 22815349] Genetic, behavioral, and sociodemographic risk factors for second eye progression in age-related macular degeneration.

GWAS snp
PMID [PMID 24097068OA-icon.png]
Trait HDL cholesterol
Title Discovery and refinement of loci associated with lipid levels.
Risk Allele G
P-val 1E-149
Odds Ratio .16 [NR] unit increase
GWAS snp
PMID [PMID 20139978]
Trait Hematological and biochemical traits
Title Genome-wide association study of hematological and biochemical traits in a Japanese population.
Risk Allele G
P-val 9E-6
Odds Ratio .13 [0.070-0.180] unit increase