Source: CURATED

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

2012