Source: ALL

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs118203946
rs118203946
MTOR ; UBIAD1
CUI: C0271287
Disease: Schnyder crystalline corneal dystrophy
Schnyder crystalline corneal dystrophy 		0.810 GeneticVariation BEFREE In four families with DNA samples from both affected and unaffected individuals, the D118G, G186R, T175I, and G177R mutations cosegregated with SCCD. 18176953

2008
dbSNP: rs118203946
rs118203946
MTOR ; UBIAD1
CUI: C0271287
Disease: Schnyder crystalline corneal dystrophy
Schnyder crystalline corneal dystrophy 		C 0.810 CausalMutation CLINVAR

dbSNP: rs118203946
rs118203946
MTOR ; UBIAD1
CUI: C0271287
Disease: Schnyder crystalline corneal dystrophy
Schnyder crystalline corneal dystrophy 		0.810 GeneticVariation UNIPROT