ALAS2, 5'-aminolevulinate synthase 2, 212

N. diseases: 79; N. variants: 26
Disease: Hereditary hemochromatosis ×
Source: ALL
Variant DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Disease Class Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs137852310
rs137852310 		0.882 0.120 X 55021095 missense variant A/G snv
CUI: C0392514
Disease: Hereditary hemochromatosis
Hereditary hemochromatosis 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.010 1.000 1 1999 1999