TMPRSS6, transmembrane serine protease 6, 164656

N. diseases: 113; N. variants: 86
Disease: Iron-Refractory Iron Deficiency Anemia ×
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: rs137853123
rs137853123 		1.000 0.080 22 37070557 stop gained G/A snv 5.2E-05 1.4E-05
CUI: C0085576
Disease: Iron-Refractory Iron Deficiency Anemia
Iron-Refractory Iron Deficiency Anemia 		Nutritional and Metabolic Diseases; Hemic and Lymphatic Diseases 0.700 0