Gene: OFD1 ×
Source: CLINVAR ×
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs312262830
rs312262830
OFD1
T 0.700 CausalMutation CLINVAR CNS involvement in OFD1 syndrome: a clinical, molecular, and neuroimaging study. 24884629

2014
dbSNP: rs312262830
rs312262830
OFD1
T 0.700 CausalMutation CLINVAR Mutational spectrum of the oral-facial-digital type I syndrome: a study on a large collection of patients. 18546297

2008