SLC11A2, solute carrier family 11 member 2, 4891

N. diseases: 99; N. variants: 13
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: rs1048230
rs1048230 		0.827 0.160 12 50992283 synonymous variant A/G snv 0.17 0.15
CUI: C0392514
Disease: Hereditary hemochromatosis
Hereditary hemochromatosis 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.010 < 0.001 1 2000 2000