Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs312262845
rs312262845
OFD1
CUI: C0431399
Disease: Familial aplasia of the vermis
Familial aplasia of the vermis 		C 0.700 CausalMutation CLINVAR Mutational spectrum of the oral-facial-digital type I syndrome: a study on a large collection of patients. 18546297

2008