Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1242465339
rs1242465339
Entrez Id: 7386
Gene Symbol: UQCRFS1
UQCRFS1
CUI: C0878544
Disease:
Cardiomyopathies 		A 0.700 CausalMutation CLINVAR
dbSNP: rs1242465339
rs1242465339
Entrez Id: 7386
Gene Symbol: UQCRFS1
UQCRFS1
CUI: C0268579
Disease:
Propionic acidemia 		A 0.700 CausalMutation CLINVAR
dbSNP: rs1242465339
rs1242465339
Entrez Id: 7386
Gene Symbol: UQCRFS1
UQCRFS1
CUI: C0001125
Disease:
Acidosis, Lactic 		A 0.700 CausalMutation CLINVAR
dbSNP: rs1568344751
rs1568344751
Entrez Id: 7386
Gene Symbol: UQCRFS1
UQCRFS1
CUI: C0001125
Disease:
Acidosis, Lactic 		G 0.700 CausalMutation CLINVAR
dbSNP: rs1568344751
rs1568344751
Entrez Id: 7386
Gene Symbol: UQCRFS1
UQCRFS1
CUI: C0268579
Disease:
Propionic acidemia 		G 0.700 CausalMutation CLINVAR
dbSNP: rs1568344751
rs1568344751
Entrez Id: 7386
Gene Symbol: UQCRFS1
UQCRFS1
CUI: C0878544
Disease:
Cardiomyopathies 		G 0.700 CausalMutation CLINVAR
dbSNP: rs1568346416
rs1568346416
Entrez Id: 7386;105372352
Gene Symbol: UQCRFS1;LOC105372352
UQCRFS1;LOC105372352
CUI: C0001125
Disease:
Acidosis, Lactic 		T 0.700 CausalMutation CLINVAR
dbSNP: rs1568346416
rs1568346416
Entrez Id: 7386;105372352
Gene Symbol: UQCRFS1;LOC105372352
UQCRFS1;LOC105372352
CUI: C0268579
Disease:
Propionic acidemia 		T 0.700 CausalMutation CLINVAR
dbSNP: rs1568346416
rs1568346416
Entrez Id: 7386;105372352
Gene Symbol: UQCRFS1;LOC105372352
UQCRFS1;LOC105372352
CUI: C0878544
Disease:
Cardiomyopathies 		T 0.700 CausalMutation CLINVAR