Disease: Abetalipoproteinemia ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs199422220
rs199422220
Entrez Id: 4547
Gene Symbol: MTTP
MTTP
CUI: C0000744
Disease:
Abetalipoproteinemia 		A 0.800 CausalMutation CLINVAR Loss of both phospholipid and triglyceride transfer activities of microsomal triglyceride transfer protein in abetalipoproteinemia. 23475612 2013
dbSNP: rs199422220
rs199422220
Entrez Id: 4547
Gene Symbol: MTTP
MTTP
CUI: C0000744
Disease:
Abetalipoproteinemia 		0.800 GeneticVariation UNIPROT EFNS guidelines on the molecular diagnosis of ataxias and spastic paraplegias. 20050888 2010
dbSNP: rs199422220
rs199422220
Entrez Id: 4547
Gene Symbol: MTTP
MTTP
CUI: C0000744
Disease:
Abetalipoproteinemia 		A 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