Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs377669670
rs377669670
A 0.700 GeneticVariation CLINVAR

dbSNP: rs755377651
rs755377651
T 0.700 GeneticVariation CLINVAR

dbSNP: rs80358194
rs80358194
0.010 GeneticVariation BEFREE The previously reported c.720C > A (p.C240X) nonsense mutation was identified in two additional families in our sample and therefore appears to be recurrent, now reported in three independent microphthalmia families of varied ethnic backgrounds. 20140963

2010