Source: ALL
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 Mutational spectrum of the oral-facial-digital type I syndrome: a study on a large collection of patients. 18546297

2008
dbSNP: rs312262890
rs312262890
OFD1
GAAGA 0.700 CausalMutation CLINVAR

dbSNP: rs387906726
rs387906726
PIGA
0.010 GeneticVariation BEFREE We were able to confirm the same c.1234C>T (p.Arg412*) mutation in the DNA sample from an affected fetus of the original family affected with SGBS2. 26545172

2016