Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs387907360
rs387907360
0.710 GeneticVariation BEFREE Finally, direct sequencing of MED12, the gene mutated in Opitz-Kaveggia syndrome, Lujan-Fryns syndrome and X-linked Ohdo syndrome identified in the two sibs the missense mutation c.3443G>A (p.Arg1148His) inherited from the mother. 24715367

2014

dbSNP: rs387907360
rs387907360
A 0.710 CausalMutation CLINVAR

dbSNP: rs387907361
rs387907361
C 0.700 CausalMutation CLINVAR

dbSNP: rs387907362
rs387907362
A 0.700 CausalMutation CLINVAR

dbSNP: rs765417606
rs765417606
G 0.700 GeneticVariation CLINVAR

dbSNP: rs80338758
rs80338758
T 0.700 CausalMutation CLINVAR