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rs3816873

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 2.2 reduced risk of type-2 diabetes
(C;T) None
(T;T) 0 None
ReferenceGRCh38 38.1/141
Chromosome4
Position99583507
GeneMTTP
is asnp
is mentioned by
dbSNPrs3816873
ebirs3816873
HLIrs3816873
Exacrs3816873
Varsomers3816873
Maprs3816873
PheGenIrs3816873
hapmaprs3816873
1000 genomesrs3816873
hgdprs3816873
ensemblrs3816873
gopubmedrs3816873
geneviewrs3816873
scholarrs3816873
googlers3816873
pharmgkbrs3816873
gwascentralrs3816873
openSNPrs3816873
23andMers3816873
23andMe allrs3816873
SNP Nexus

SNPshotrs3816873
SNPdbers3816873
MSV3drs3816873
GWAS Ctlgrs3816873
GMAF0.2158
Max Magnitude2.2
? (C;C) (C;T) (T;T) 28
Also known as I128T MTP

[PMID 16721486] rare allele of the MTP I128T polymorphism may be protective against impaired glucose tolerance, type-2 diabetes

Neighborrs2306986
Distance89
OMIM157147
DescMICROSOMAL TRIGLYCERIDE TRANSFER PROTEIN, 88-KD; MTP
Variant
Relatedalso
OMIM157147
Desc
Variant0009
Relatedalso


ClinVar
Risk rs3816873(C;C)
Alt rs3816873(C;C)
Reference rs3816873(T;T)
Significance Other
Disease Metabolic syndrome not specified
Variation info
Gene MTTP
CLNDBN Metabolic syndrome, protection against not specified
Reversed 0
HGVS NC_000004.11:g.100504664T>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000015310.3, RCV000117636.3,



[PMID 21438662] Association of polymorphisms in glutamate-cysteine ligase catalytic subunit and microsomal triglyceride transfer protein genes with nonalcoholic fatty liver disease.


GET Evidence
MTTP-I128T
aa_change Ile128Thr
aa_change_short I128T
impact not reviewed
qualified_impact Insufficiently evaluated not reviewed
overall_frequency 0.266134
summary