ALAS2, 5'-aminolevulinate synthase 2, 212

N. diseases: 79; N. variants: 26
Disease: Hereditary hemochromatosis ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs137852310
rs137852310
Entrez Id: 212
Gene Symbol: ALAS2
ALAS2
CUI: C0392514
Disease:
Hereditary hemochromatosis 		0.010 GeneticVariation BEFREE One proband (Y199H) with severe and early iron loading coinherited HH as a C282Y homozygote. 10029606 1999