Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1048103951
rs1048103951
TXNRD1
0.010 GeneticVariation BEFREE Cytochrome b5 oxidoreductase: expression and characterization of the original familial ideopathic methemoglobinemia mutations E255- and G291D. 15111120

2004
dbSNP: rs121965006
rs121965006
CYB5R3
0.010 GeneticVariation BEFREE To understand these changes at a structural level, we have determined the structure of the S127P mutant of rat cytochrome b(5) reductase to 1.8 A resolution, providing the first structural snapshot of a cytochrome b(5) reductase mutant that causes methemoglobinemia. 14609324

2003
dbSNP: rs371323516
rs371323516
CYB5R3
0.010 GeneticVariation BEFREE Identification of a novel point mutation (Leu72Pro) in the NADH-cytochrome b5 reductase gene of a patient with hereditary methaemoglobinaemia type I. 9695975

1998