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: rs144071404
rs144071404
Entrez Id: 1727
Gene Symbol: CYB5R3
CYB5R3
CUI: C0272087
Disease:
Congenital Methemoglobinemia 		T 0.710 CausalMutation CLINVAR Molecular basis of two novel mutations found in type I methemoglobinemia. 21349748 2011
dbSNP: rs144071404
rs144071404
Entrez Id: 1727
Gene Symbol: CYB5R3
CYB5R3
CUI: C0272087
Disease:
Congenital Methemoglobinemia 		0.710 GeneticVariation BEFREE The V252M mutation is present in the NADH-binding domain and associated with both types I and II recessive congenital methemoglobinemia. 16310381 2006
dbSNP: rs144071404
rs144071404
Entrez Id: 1727
Gene Symbol: CYB5R3
CYB5R3
CUI: C0272087
Disease:
Congenital Methemoglobinemia 		T 0.710 CausalMutation CLINVAR Identification and characterization of the novel FAD-binding lobe G75S mutation in cytochrome b(5) reductase: an aid to determine recessive congenital methemoglobinemia status in an infant. 16310381 2006
dbSNP: rs121965006
rs121965006
Entrez Id: 1727
Gene Symbol: CYB5R3
CYB5R3
CUI: C2749560
Disease:
Methemoglobinemia, Type Ii 		0.710 GeneticVariation BEFREE S127P, a mutant that causes type II methemoglobinemia, was the first to be positively identified and have its spectroscopic and kinetic properties characterized that revealed altered nicotinamide adenine dinucleotide hydride (NADH) substrate binding behavior. 14609324 2003
dbSNP: rs144071404
rs144071404
Entrez Id: 1727
Gene Symbol: CYB5R3
CYB5R3
CUI: C0272087
Disease:
Congenital Methemoglobinemia 		T 0.710 CausalMutation CLINVAR Compound heterozygosity of two missense mutations in the NADH-cytochrome b5 reductase gene of a Polish patient with type I recessive congenital methaemoglobinaemia. 12756024 2003
dbSNP: rs144071404
rs144071404
Entrez Id: 1727
Gene Symbol: CYB5R3
CYB5R3
CUI: C0272087
Disease:
Congenital Methemoglobinemia 		T 0.710 CausalMutation CLINVAR Molecular basis of recessive congenital methemoglobinemia, types I and II: Exon skipping and three novel missense mutations in the NADH-cytochrome b5 reductase (diaphorase 1) gene. 11295830 2001
dbSNP: rs144071404
rs144071404
Entrez Id: 1727
Gene Symbol: CYB5R3
CYB5R3
CUI: C0272087
Disease:
Congenital Methemoglobinemia 		T 0.710 CausalMutation CLINVAR Seven new mutations in the nicotinamide adenine dinucleotide reduced-cytochrome b(5) reductase gene leading to methemoglobinemia type I. 11159544 2001
dbSNP: rs121965006
rs121965006
Entrez Id: 1727
Gene Symbol: CYB5R3
CYB5R3
CUI: C2749560
Disease:
Methemoglobinemia, Type Ii 		G 0.710 CausalMutation CLINVAR
dbSNP: rs7284660
rs7284660
Entrez Id: 1727;267020
Gene Symbol: CYB5R3;ATP5MGL
CYB5R3;ATP5MGL
CUI: C0005890
Disease:
Body Height 		0.700 GeneticVariation GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
dbSNP: rs3091344
rs3091344
Entrez Id: 1727
Gene Symbol: CYB5R3
CYB5R3
CUI: C0410702
Disease:
Adolescent idiopathic scoliosis 		0.700 GeneticVariation GWASCAT The coexistence of copy number variations (CNVs) and single nucleotide polymorphisms (SNPs) at a locus can result in distorted calculations of the significance in associating SNPs to disease. 30019117 2018
dbSNP: rs3091344
rs3091344
Entrez Id: 1727
Gene Symbol: CYB5R3
CYB5R3
CUI: C1837461
Disease:
SCOLIOSIS, ISOLATED, SUSCEPTIBILITY TO, 3 		0.700 GeneticVariation GWASCAT The coexistence of copy number variations (CNVs) and single nucleotide polymorphisms (SNPs) at a locus can result in distorted calculations of the significance in associating SNPs to disease. 30019117 2018
dbSNP: rs121965006
rs121965006
Entrez Id: 1727
Gene Symbol: CYB5R3
CYB5R3
CUI: C0268193
Disease:
NADH cytochrome B5 reductase deficiency 		0.700 GeneticVariation UNIPROT Recessive congenital methaemoglobinaemia: functional characterization of the novel D239G mutation in the NADH-binding lobe of cytochrome b5 reductase. 15953014 2005
dbSNP: rs121965007
rs121965007
Entrez Id: 1727
Gene Symbol: CYB5R3
CYB5R3
CUI: C0268193
Disease:
NADH cytochrome B5 reductase deficiency 		0.700 GeneticVariation UNIPROT Recessive congenital methaemoglobinaemia: functional characterization of the novel D239G mutation in the NADH-binding lobe of cytochrome b5 reductase. 15953014 2005
dbSNP: rs121965008
rs121965008
Entrez Id: 1727
Gene Symbol: CYB5R3
CYB5R3
CUI: C0268193
Disease:
NADH cytochrome B5 reductase deficiency 		0.700 GeneticVariation UNIPROT Recessive congenital methaemoglobinaemia: functional characterization of the novel D239G mutation in the NADH-binding lobe of cytochrome b5 reductase. 15953014 2005
dbSNP: rs121965009
rs121965009
Entrez Id: 1727
Gene Symbol: CYB5R3
CYB5R3
CUI: C0268193
Disease:
NADH cytochrome B5 reductase deficiency 		0.700 GeneticVariation UNIPROT Recessive congenital methaemoglobinaemia: functional characterization of the novel D239G mutation in the NADH-binding lobe of cytochrome b5 reductase. 15953014 2005
dbSNP: rs121965011
rs121965011
Entrez Id: 1727
Gene Symbol: CYB5R3
CYB5R3
CUI: C0268193
Disease:
NADH cytochrome B5 reductase deficiency 		0.700 GeneticVariation UNIPROT Recessive congenital methaemoglobinaemia: functional characterization of the novel D239G mutation in the NADH-binding lobe of cytochrome b5 reductase. 15953014 2005
dbSNP: rs121965013
rs121965013
Entrez Id: 1727
Gene Symbol: CYB5R3
CYB5R3
CUI: C0268193
Disease:
NADH cytochrome B5 reductase deficiency 		0.700 GeneticVariation UNIPROT Recessive congenital methaemoglobinaemia: functional characterization of the novel D239G mutation in the NADH-binding lobe of cytochrome b5 reductase. 15953014 2005
dbSNP: rs121965015
rs121965015
Entrez Id: 1727
Gene Symbol: CYB5R3
CYB5R3
CUI: C0268193
Disease:
NADH cytochrome B5 reductase deficiency 		0.700 GeneticVariation UNIPROT Recessive congenital methaemoglobinaemia: functional characterization of the novel D239G mutation in the NADH-binding lobe of cytochrome b5 reductase. 15953014 2005
dbSNP: rs121965016
rs121965016
Entrez Id: 1727
Gene Symbol: CYB5R3
CYB5R3
CUI: C0268193
Disease:
NADH cytochrome B5 reductase deficiency 		0.700 GeneticVariation UNIPROT Recessive congenital methaemoglobinaemia: functional characterization of the novel D239G mutation in the NADH-binding lobe of cytochrome b5 reductase. 15953014 2005
dbSNP: rs201232518
rs201232518
Entrez Id: 1727
Gene Symbol: CYB5R3
CYB5R3
CUI: C0268193
Disease:
NADH cytochrome B5 reductase deficiency 		0.700 GeneticVariation UNIPROT Recessive congenital methaemoglobinaemia: functional characterization of the novel D239G mutation in the NADH-binding lobe of cytochrome b5 reductase. 15953014 2005
dbSNP: rs121965006
rs121965006
Entrez Id: 1727
Gene Symbol: CYB5R3
CYB5R3
CUI: C0268193
Disease:
NADH cytochrome B5 reductase deficiency 		0.700 GeneticVariation UNIPROT Familial idiopathic methemoglobinemia revisited: original cases reveal 2 novel mutations in NADH-cytochrome b5 reductase. 12393396 2002
dbSNP: rs121965007
rs121965007
Entrez Id: 1727
Gene Symbol: CYB5R3
CYB5R3
CUI: C0268193
Disease:
NADH cytochrome B5 reductase deficiency 		0.700 GeneticVariation UNIPROT Familial idiopathic methemoglobinemia revisited: original cases reveal 2 novel mutations in NADH-cytochrome b5 reductase. 12393396 2002
dbSNP: rs121965008
rs121965008
Entrez Id: 1727
Gene Symbol: CYB5R3
CYB5R3
CUI: C0268193
Disease:
NADH cytochrome B5 reductase deficiency 		0.700 GeneticVariation UNIPROT Familial idiopathic methemoglobinemia revisited: original cases reveal 2 novel mutations in NADH-cytochrome b5 reductase. 12393396 2002
dbSNP: rs121965009
rs121965009
Entrez Id: 1727
Gene Symbol: CYB5R3
CYB5R3
CUI: C0268193
Disease:
NADH cytochrome B5 reductase deficiency 		0.700 GeneticVariation UNIPROT Familial idiopathic methemoglobinemia revisited: original cases reveal 2 novel mutations in NADH-cytochrome b5 reductase. 12393396 2002
dbSNP: rs121965011
rs121965011
Entrez Id: 1727
Gene Symbol: CYB5R3
CYB5R3
CUI: C0268193
Disease:
NADH cytochrome B5 reductase deficiency 		0.700 GeneticVariation UNIPROT Familial idiopathic methemoglobinemia revisited: original cases reveal 2 novel mutations in NADH-cytochrome b5 reductase. 12393396 2002