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rs3812316

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common on affy axiom data
Make rs3812316(C;G)
Make rs3812316(G;G)
ReferenceGRCh38 38.1/141
Chromosome7
Position73606007
GeneMLXIPL
is asnp
is mentioned by
dbSNPrs3812316
ebirs3812316
HLIrs3812316
Exacrs3812316
Varsomers3812316
Maprs3812316
PheGenIrs3812316
hapmaprs3812316
1000 genomesrs3812316
hgdprs3812316
ensemblrs3812316
gopubmedrs3812316
geneviewrs3812316
scholarrs3812316
googlers3812316
pharmgkbrs3812316
gwascentralrs3812316
openSNPrs3812316
23andMers3812316
23andMe allrs3812316
SNP Nexus

SNPshotrs3812316
SNPdbers3812316
MSV3drs3812316
GWAS Ctlgrs3812316
GMAF0.08632
Max Magnitude0
rs3812316, a SNP in the MLXIPL gene that is also known as G771C or Gln241His, has been observed in a study of over 10,000 individuals of different ethnicities to be very significantly associated (p=1.4x10e-10) with plasma triglyceride levels.[PMID 18193046]
Venter snp
Source plos
Gene MLXIPL
allele G
frequency
sift
HuRef 1103652612588
Disease Association Haploinsufficiency of WBSCR14 may be the cause of certain cardiovascular and musculo-skeletal abnormalities observed in Williams-Beuren syndrome (WBS) (MIM:194050). WBS is a rare developmental disorder. It is a contiguous gene deletion syndrome involving genes from chromosome band 7q11.23.
GWAS
SNP rs3812316
PubMedID [PMID 18193046]
Condition Triglycerides
Gene MLXIPL
Risk Allele C
pValue 1.00E-010
OR 10.5
95% CI 5.3-17.7)% highe


[PMID 19571538] G771C Polymorphism in the MLXIPL Gene Is Associated with a Risk of Coronary Artery Disease in the Chinese: A Case-Control Study

[PMID 19487539] Large scale replication analysis of loci associated with lipid concentrations in a Japanese population

[PMID 19680233] Replication of Association Between a Common Variant Near Melanocortin-4 Receptor Gene and Obesity-related Traits in Asian Sikhs



[PMID 21726544] ChREBP gene polymorphisms are associated with coronary artery disease in Han population of Hubei province

[PMID 18852197OA-icon.png] Metabolic and cardiovascular traits: an abundance of recently identified common genetic variants.


[PMID 18946681] MLXIPL variant in individuals with low and high triglyceridemia in white population in Central Europe.


[PMID 20158509] Triglyceride level modifying functional variants of GALTN2 and MLXIPL in patients with ischaemic stroke.


GET Evidence
MLXIPL-Q241H
aa_change Gln241His
aa_change_short Q241H
impact pharmacogenetic
qualified_impact Insufficiently evaluated pharmacogenetic
overall_frequency 0.092796
summary



[PMID 24448738] An Amino Acid Change in the Carbohydrate Response Element Binding Protein is Associated with Lower Triglycerides and Myocardial Infarction Incidence Depending on Level of Adherence to the Mediterranean Diet in the PREDIMED Trial


[PMID 24989072] Association between the MLX interacting protein-like, BUD13 homolog and zinc finger protein 259 gene polymorphisms and serum lipid levels


[PMID 27854512] Genetic and Environmental Biomarkers Associated with Triglyceride Levels in Two Groups of Slovak Women.