rs1161457931, TMPRSS6

N. diseases: 9
Source: ALL
Disease N. SNPs d DSI v DPI v Chr Position Consequence Alleles Class AFEXOME AFGENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
Hereditary hemochromatosis
CUI: C0392514
Disease: Hereditary hemochromatosis
56 0.763 0.200 22 37084836 missense variant C/T snv 6.4E-06 0.020 1.000 2 2012 2014
Celiac Disease
CUI: C0007570
Disease: Celiac Disease
263 0.763 0.200 22 37084836 missense variant C/T snv 6.4E-06 0.010 1.000 1 2018 2018
Cirrhosis
CUI: C1623038
Disease: Cirrhosis
110 0.763 0.200 22 37084836 missense variant C/T snv 6.4E-06 0.010 1.000 1 2014 2014
Fibrosis, Liver
CUI: C0239946
Disease: Fibrosis, Liver
64 0.763 0.200 22 37084836 missense variant C/T snv 6.4E-06 0.010 1.000 1 2014 2014
Hemochromatosis
CUI: C0018995
Disease: Hemochromatosis
45 0.763 0.200 22 37084836 missense variant C/T snv 6.4E-06 0.010 1.000 1 2014 2014
HEMOCHROMATOSIS, TYPE 1
CUI: C3469186
Disease: HEMOCHROMATOSIS, TYPE 1
62 0.763 0.200 22 37084836 missense variant C/T snv 6.4E-06 0.010 1.000 1 2014 2014
Iron deficiency anemia
CUI: C0162316
Disease: Iron deficiency anemia
21 0.763 0.200 22 37084836 missense variant C/T snv 6.4E-06 0.010 1.000 1 2018 2018
Iron Overload
CUI: C0282193
Disease: Iron Overload
53 0.763 0.200 22 37084836 missense variant C/T snv 6.4E-06 0.010 1 2012 2012
Liver Cirrhosis
CUI: C0023890
Disease: Liver Cirrhosis
189 0.763 0.200 22 37084836 missense variant C/T snv 6.4E-06 0.010 1.000 1 2014 2014