{{Rsnum
|rsid=3812316
|Gene=MLXIPL
|Chromosome=7
|position=73606007
|Orientation=plus
|ReferenceAllele=G
|MissenseAllele=C
|GMAF=0.08632
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|geno1=(C;C)
|geno2=(C;G)
|geno3=(G;G)
|effect1=
|effect2=
|effect3=
|Gene_s=MLXIPL
}}[[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
|rsid=3812316
|allele=G
|frequency=
|uid=1103652612588
|type=heterozygous_SNP
|hugo=MLXIPL
|ensembl gene=ENSG00000009950
|ensembl transcript=ENST00000313375
|sift=
|disease=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 Summary
|SNP=rs3812316
|PubMedID=18193046
|Condition=Triglycerides
|Gene=MLXIPL
|Risk Allele=C
|pValue=1.00E-010
|OR=10.5
|95CI=5.3-17.7)% highe
}}
{{PMID Auto
|PMID=19571538
|Title=G771C Polymorphism in the MLXIPL Gene Is Associated with a Risk of Coronary Artery Disease in the Chinese: A Case-Control Study
}}
{{PMID Auto
|PMID=19487539
|Title=Large scale replication analysis of loci associated with lipid concentrations in a Japanese population
}}
{{PMID Auto
|PMID=19680233
|Title=Replication of Association Between a Common Variant Near Melanocortin-4 Receptor Gene and Obesity-related Traits in Asian Sikhs
}}

{{PharmGKB
|RSID=rs3812316
|Name_s=
|Gene_s=MLXIPL
|Feature=
|Evidence=PubMed ID:18193046; Web Resource:http://www.genome.gov/gwastudies/
|Annotation=GWAS Results: Genome-wide scan identifies variation in MLXIPL associated with plasma triglycerides (Initial Sample Size: 2,011 individuals; Replication Sample Size: 10,536 individuals; Risk Allele: rs3812316-C).
|Drugs=
|Drug Classes=
|Diseases=Cardiovascular Diseases; Coronary Disease
|Curation Level=Non-Curated
|PharmGKB Accession ID=PA162356729
}}

{{PMID Auto
|PMID=21726544
|Title=ChREBP gene polymorphisms are associated with coronary artery disease in Han population of Hubei province
}}
{{PMID Auto
|PMID=18852197
|Title=Metabolic and cardiovascular traits: an abundance of recently identified common genetic variants.
|OA=1
}}

{{PMID Auto
|PMID=18946681
|Title=MLXIPL variant in individuals with low and high triglyceridemia in white population in Central Europe.
}}

{{PMID Auto
|PMID=20158509
|Title=Triglyceride level modifying functional variants of GALTN2 and MLXIPL in patients with ischaemic stroke.
}}

{{GET Evidence
|gene=MLXIPL
|aa_change=Gln241His
|aa_change_short=Q241H
|impact=pharmacogenetic
|qualified_impact=Insufficiently evaluated pharmacogenetic
|inheritance=unknown
|quality_scores=Array
|dbsnp_id=rs3812316
|overall_frequency_n=997
|overall_frequency_d=10744
|overall_frequency=0.092796
|n_genomes=7
|n_genomes_annotated=0
|n_haplomes=7
|n_articles=0
|n_articles_annotated=0
|in_gwas=Y
|in_pharmgkb=Y
|pph2_score=0.697
|nblosum100=-1
|autoscore=2
|webscore=N
}}

{{PMID Auto
|PMID=24448738
|Title=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
}}
{{on chip | 23andMe v3}}
{{on chip | 23andMe v4}}