rs199422220, MTTP

N. diseases: 1
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Abetalipoproteinemia
CUI: C0000744
Disease: Abetalipoproteinemia
0.800 CausalMutation CLINVAR Loss of both phospholipid and triglyceride transfer activities of microsomal triglyceride transfer protein in abetalipoproteinemia. 23475612 2013
Abetalipoproteinemia
CUI: C0000744
Disease: Abetalipoproteinemia
0.800 GeneticVariation UNIPROT EFNS guidelines on the molecular diagnosis of ataxias and spastic paraplegias. 20050888 2010
Abetalipoproteinemia
CUI: C0000744
Disease: Abetalipoproteinemia
0.800 CausalMutation CLINVAR A novel abetalipoproteinemia genotype. Identification of a missense mutation in the 97-kDa subunit of the microsomal triglyceride transfer protein that prevents complex formation with protein disulfide isomerase. 8939939 1996