Source: ALL

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs118203951
rs118203951
MTOR ; UBIAD1
CUI: C0271287
Disease: Schnyder crystalline corneal dystrophy
Schnyder crystalline corneal dystrophy 		0.810 GeneticVariation BEFREE Surgical management and genetic analysis of a Chinese family with the S171P mutation in the UBIAD1 gene, the gene for Schnyder corneal dystrophy. 19429578

2009
dbSNP: rs118203951
rs118203951
MTOR ; UBIAD1
CUI: C0271287
Disease: Schnyder crystalline corneal dystrophy
Schnyder crystalline corneal dystrophy 		0.810 GeneticVariation UNIPROT

dbSNP: rs118203951
rs118203951
MTOR ; UBIAD1
CUI: C0271287
Disease: Schnyder crystalline corneal dystrophy
Schnyder crystalline corneal dystrophy 		C 0.810 CausalMutation CLINVAR