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Rs12130333

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Orientationplus
Make rs12130333(C;C)
Make rs12130333(C;T)
Make rs12130333(T;T)
ReferenceGRCh38 38.1/141
Chromosome1
Position62726106
is asnp
is mentioned by
dbSNPrs12130333
PheGenIrs12130333
nextbiors12130333
hapmaprs12130333
1000 genomesrs12130333
hgdprs12130333
ensemblrs12130333
gopubmedrs12130333
geneviewrs12130333
scholarrs12130333
googlers12130333
pharmgkbrs12130333
gwascentralrs12130333
openSNPrs12130333
23andMers12130333
23andMe allrs12130333
SNP Nexus

SNPshotrs12130333
SNPdbers12130333
MSV3drs12130333
GMAF0.1185
Max Magnitude
? (C;C) (C;T) (T;T) 28
GWAS
SNP rs12130333
PubMedID [PMID 18193044OA-icon.png]
Condition Triglycerides
Gene ANGPTL3, DOCK7, ATG4C
Risk Allele C
pValue 2.00E-008
OR 0.11
95% CI 0.07-0.15) % SD lowe



[PMID 19656773OA-icon.png] A polygenic basis for four classical Fredrickson hyperlipoproteinemia phenotypes that are characterized by hypertriglyceridemia

[PMID 18596051] Polygenic determinants of severe hypertriglyceridemia.

[PMID 19060910OA-icon.png] Genome-wide association analysis of metabolic traits in a birth cohort from a founder population.

[PMID 19197348OA-icon.png] Genome-wide association studies in an isolated founder population from the Pacific Island of Kosrae.

[PMID 19802338OA-icon.png] Genetic loci associated with plasma concentration of low-density lipoprotein cholesterol, high-density lipoprotein cholesterol, triglycerides, apolipoprotein A1, and Apolipoprotein B among 6382 white women in genome-wide analysis with replication.

[PMID 21691831] Triglyceride level-influencing functional variants of the ANGPTL3, CILP2, and TRIB1 loci in ischemic stroke.


GET Evidence
rs12130333
aa_change
aa_change_short
impact pathogenic
qualified_impact Insufficiently evaluated pathogenic
overall_frequency 0.179688
summary



[PMID 22896670OA-icon.png] Interaction between SNPs in the RXRA and near ANGPTL3 gene region inhibits apoB reduction after statin-fenofibric acid therapy in individuals with mixed dyslipidemia.