Disease: SQUALENE SYNTHASE DEFICIENCY ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1563290033
rs1563290033
Entrez Id: 2222;105379243
Gene Symbol: FDFT1;LOC105379243
FDFT1;LOC105379243
CUI: C4748427
Disease:
SQUALENE SYNTHASE DEFICIENCY 		T 0.700 GeneticVariation CLINVAR Squalene Synthase Deficiency: Clinical, Biochemical, and Molecular Characterization of a Defect in Cholesterol Biosynthesis. 29909962 2018
dbSNP: rs1563290033
rs1563290033
Entrez Id: 2222;105379243
Gene Symbol: FDFT1;LOC105379243
FDFT1;LOC105379243
CUI: C4748427
Disease:
SQUALENE SYNTHASE DEFICIENCY 		T 0.700 CausalMutation CLINVAR