CYB5R3, cytochrome b5 reductase 3, 1727

N. diseases: 73; N. variants: 28
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121965006
rs121965006
Entrez Id: 1727
Gene Symbol: CYB5R3
CYB5R3
CUI: C2749560
Disease:
Methemoglobinemia, Type Ii 		G 0.710 CausalMutation CLINVAR
dbSNP: rs121965007
rs121965007
Entrez Id: 1727
Gene Symbol: CYB5R3
CYB5R3
CUI: C2749559
Disease:
Methemoglobinemia, Type I 		T 0.700 CausalMutation CLINVAR
dbSNP: rs121965008
rs121965008
Entrez Id: 1727
Gene Symbol: CYB5R3
CYB5R3
CUI: C2749559
Disease:
Methemoglobinemia, Type I 		G 0.700 CausalMutation CLINVAR
dbSNP: rs121965009
rs121965009
Entrez Id: 1727
Gene Symbol: CYB5R3
CYB5R3
CUI: C2749559
Disease:
Methemoglobinemia, Type I 		T 0.700 CausalMutation CLINVAR
dbSNP: rs121965010
rs121965010
Entrez Id: 1727
Gene Symbol: CYB5R3
CYB5R3
CUI: C2749560
Disease:
Methemoglobinemia, Type Ii 		A 0.700 CausalMutation CLINVAR
dbSNP: rs121965011
rs121965011
Entrez Id: 1727
Gene Symbol: CYB5R3
CYB5R3
CUI: C2749560
Disease:
Methemoglobinemia, Type Ii 		G 0.700 CausalMutation CLINVAR
dbSNP: rs121965012
rs121965012
Entrez Id: 1727
Gene Symbol: CYB5R3
CYB5R3
CUI: C2749560
Disease:
Methemoglobinemia, Type Ii 		C 0.700 CausalMutation CLINVAR
dbSNP: rs121965013
rs121965013
Entrez Id: 1727
Gene Symbol: CYB5R3
CYB5R3
CUI: C2749559
Disease:
Methemoglobinemia, Type I 		G 0.700 CausalMutation CLINVAR
dbSNP: rs121965014
rs121965014
Entrez Id: 1727
Gene Symbol: CYB5R3
CYB5R3
CUI: C2749560
Disease:
Methemoglobinemia, Type Ii 		A 0.700 CausalMutation CLINVAR
dbSNP: rs121965015
rs121965015
Entrez Id: 1727
Gene Symbol: CYB5R3
CYB5R3
CUI: C2749559
Disease:
Methemoglobinemia, Type I 		T 0.700 CausalMutation CLINVAR
dbSNP: rs121965016
rs121965016
Entrez Id: 1727
Gene Symbol: CYB5R3
CYB5R3
CUI: C2749559
Disease:
Methemoglobinemia, Type I 		T 0.700 CausalMutation CLINVAR
dbSNP: rs121965017
rs121965017
Entrez Id: 1727
Gene Symbol: CYB5R3
CYB5R3
CUI: C2749559
Disease:
Methemoglobinemia, Type I 		T 0.700 CausalMutation CLINVAR
dbSNP: rs121965018
rs121965018
Entrez Id: 1727
Gene Symbol: CYB5R3
CYB5R3
CUI: C2749559
Disease:
Methemoglobinemia, Type I 		C 0.700 CausalMutation CLINVAR
dbSNP: rs200872504
rs200872504
Entrez Id: 1727
Gene Symbol: CYB5R3
CYB5R3
CUI: C2749560
Disease:
Methemoglobinemia, Type Ii 		G 0.700 CausalMutation CLINVAR
dbSNP: rs61732609
rs61732609
Entrez Id: 1727
Gene Symbol: CYB5R3
CYB5R3
CUI: C2749560
Disease:
Methemoglobinemia, Type Ii 		A 0.700 CausalMutation CLINVAR
dbSNP: rs794728011
rs794728011
Entrez Id: 1727
Gene Symbol: CYB5R3
CYB5R3
CUI: C2749560
Disease:
Methemoglobinemia, Type Ii 		A 0.700 CausalMutation CLINVAR
dbSNP: rs794728012
rs794728012
Entrez Id: 1727
Gene Symbol: CYB5R3
CYB5R3
CUI: C2749560
Disease:
Methemoglobinemia, Type Ii 		A 0.700 CausalMutation CLINVAR
dbSNP: rs794728013
rs794728013
Entrez Id: 1727
Gene Symbol: CYB5R3
CYB5R3
CUI: C2749560
Disease:
Methemoglobinemia, Type Ii 		G 0.700 CausalMutation CLINVAR
dbSNP: rs794728013
rs794728013
Entrez Id: 1727
Gene Symbol: CYB5R3
CYB5R3
CUI: C0268193
Disease:
NADH cytochrome B5 reductase deficiency 		G 0.700 CausalMutation CLINVAR
dbSNP: rs121965006
rs121965006
Entrez Id: 1727
Gene Symbol: CYB5R3
CYB5R3
CUI: C0268193
Disease:
NADH cytochrome B5 reductase deficiency 		0.700 GeneticVariation UNIPROT Enzymatic instability of NADH-cytochrome b5 reductase as a cause of hereditary methemoglobinemia type I (red cell type). 1400360 1992
dbSNP: rs121965007
rs121965007
Entrez Id: 1727
Gene Symbol: CYB5R3
CYB5R3
CUI: C0268193
Disease:
NADH cytochrome B5 reductase deficiency 		0.700 GeneticVariation UNIPROT Enzymatic instability of NADH-cytochrome b5 reductase as a cause of hereditary methemoglobinemia type I (red cell type). 1400360 1992
dbSNP: rs121965008
rs121965008
Entrez Id: 1727
Gene Symbol: CYB5R3
CYB5R3
CUI: C0268193
Disease:
NADH cytochrome B5 reductase deficiency 		0.700 GeneticVariation UNIPROT Enzymatic instability of NADH-cytochrome b5 reductase as a cause of hereditary methemoglobinemia type I (red cell type). 1400360 1992
dbSNP: rs121965009
rs121965009
Entrez Id: 1727
Gene Symbol: CYB5R3
CYB5R3
CUI: C0268193
Disease:
NADH cytochrome B5 reductase deficiency 		0.700 GeneticVariation UNIPROT Enzymatic instability of NADH-cytochrome b5 reductase as a cause of hereditary methemoglobinemia type I (red cell type). 1400360 1992
dbSNP: rs121965011
rs121965011
Entrez Id: 1727
Gene Symbol: CYB5R3
CYB5R3
CUI: C0268193
Disease:
NADH cytochrome B5 reductase deficiency 		0.700 GeneticVariation UNIPROT Enzymatic instability of NADH-cytochrome b5 reductase as a cause of hereditary methemoglobinemia type I (red cell type). 1400360 1992
dbSNP: rs121965013
rs121965013
Entrez Id: 1727
Gene Symbol: CYB5R3
CYB5R3
CUI: C0268193
Disease:
NADH cytochrome B5 reductase deficiency 		0.700 GeneticVariation UNIPROT Enzymatic instability of NADH-cytochrome b5 reductase as a cause of hereditary methemoglobinemia type I (red cell type). 1400360 1992