Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs371848318
rs371848318
MUTYH ; TOE1
CUI: C3554226
Disease: Congenital pontocerebellar hypoplasia type 7
Congenital pontocerebellar hypoplasia type 7 		A 0.800 GeneticVariation CLINVAR

dbSNP: rs371848318
rs371848318
MUTYH ; TOE1
CUI: C3554226
Disease: Congenital pontocerebellar hypoplasia type 7
Congenital pontocerebellar hypoplasia type 7 		A 0.800 CausalMutation CLINVAR

dbSNP: rs1553136984
rs1553136984
MUTYH ; TOE1
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		T 0.700 GeneticVariation CLINVAR Base excision repair and the role of MUTYH. 19725997

2007
dbSNP: rs1553136984
rs1553136984
MUTYH ; TOE1
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		T 0.700 GeneticVariation CLINVAR MUTYH and the mismatch repair system: partners in crime? 16408224

2006
dbSNP: rs767402084
rs767402084
MUTYH ; TOE1
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		T 0.700 CausalMutation CLINVAR