SLC11A2, solute carrier family 11 member 2, 4891

N. diseases: 99; N. variants: 13
Disease: HEMOCHROMATOSIS, TYPE 1 ×
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: rs422982
rs422982 		0.925 0.200 12 51012571 intron variant T/A;C snv
CUI: C3469186
Disease: HEMOCHROMATOSIS, TYPE 1
HEMOCHROMATOSIS, TYPE 1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.010 1.000 1 2014 2014