Disease: Abetalipoproteinemia ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1560621495
rs1560621495
Entrez Id: 4547
Gene Symbol: MTTP
MTTP
CUI: C0000744
Disease:
Abetalipoproteinemia 		A 0.700 CausalMutation CLINVAR Molecular and functional analysis of two new MTTP gene mutations in an atypical case of abetalipoproteinemia. 22236406 2012