Gene: HFE ×
Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1799945
rs1799945
HFE ; LOC108783645
0.710 GeneticVariation BEFREE Mutation Q127H was detected in exon 3 of the HFE gene together with mutation H63D in an apparently severely affected patient previously shown to carry the protoporphyrinogen oxidase ( PPOX ) gene mutation R59W, which accounts for dominantly inherited variegate porphyria (VP) in >80% of affected South Africans. 10401000

1999
dbSNP: rs1799945
rs1799945
HFE ; LOC108783645
G 0.710 CausalMutation CLINVAR

dbSNP: rs1227507479
rs1227507479
HFE ; LOC108783645
0.010 GeneticVariation BEFREE Mutation Q127H was detected in exon 3 of the HFE gene together with mutation H63D in an apparently severely affected patient previously shown to carry the protoporphyrinogen oxidase ( PPOX ) gene mutation R59W, which accounts for dominantly inherited variegate porphyria (VP) in >80% of affected South Africans. 10401000

1999
dbSNP: rs28934595
rs28934595
HFE ; LOC108783645
0.010 GeneticVariation BEFREE Mutation Q127H was detected in exon 3 of the HFE gene together with mutation H63D in an apparently severely affected patient previously shown to carry the protoporphyrinogen oxidase ( PPOX ) gene mutation R59W, which accounts for dominantly inherited variegate porphyria (VP) in >80% of affected South Africans. 10401000

1999