Source: ALL

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs11568350
rs11568350
SLC40A1
0.790 0.240 2 189565370 missense variant C/A snv 3.8E-03 1.6E-02
CUI: C0282193
Disease: Iron Overload
Iron Overload 		0.020 1.000 2 2004 2007
dbSNP: rs11568350
rs11568350
SLC40A1
0.790 0.240 2 189565370 missense variant C/A snv 3.8E-03 1.6E-02
CUI: C1535939
Disease: Pneumocystis jiroveci pneumonia
Pneumocystis jiroveci pneumonia 		0.010 1.000 1 2012 2012
dbSNP: rs11568350
rs11568350
SLC40A1
0.790 0.240 2 189565370 missense variant C/A snv 3.8E-03 1.6E-02
CUI: C1512508
Disease: Human herpesvirus 8 infection
Human herpesvirus 8 infection 		0.010 1.000 1 2016 2016
dbSNP: rs11568350
rs11568350
SLC40A1
0.790 0.240 2 189565370 missense variant C/A snv 3.8E-03 1.6E-02
CUI: C0018995
Disease: Hemochromatosis
Hemochromatosis 		0.010 1.000 1 2007 2007
dbSNP: rs11568350
rs11568350
SLC40A1
0.790 0.240 2 189565370 missense variant C/A snv 3.8E-03 1.6E-02
CUI: C0002871
Disease: Anemia
Anemia 		0.010 1.000 1 2004 2004
dbSNP: rs11568350
rs11568350
SLC40A1
0.790 0.240 2 189565370 missense variant C/A snv 3.8E-03 1.6E-02
CUI: C0041327
Disease: Tuberculosis, Pulmonary
Tuberculosis, Pulmonary 		0.010 1.000 1 2012 2012
dbSNP: rs11568350
rs11568350
SLC40A1
0.790 0.240 2 189565370 missense variant C/A snv 3.8E-03 1.6E-02
CUI: C0029118
Disease: Opportunistic Infections
Opportunistic Infections 		0.010 1.000 1 2012 2012
dbSNP: rs11568350
rs11568350
SLC40A1
0.790 0.240 2 189565370 missense variant C/A snv 3.8E-03 1.6E-02
CUI: C3469186
Disease: HEMOCHROMATOSIS, TYPE 1
HEMOCHROMATOSIS, TYPE 1 		0.010 1.000 1 2007 2007
dbSNP: rs11568350
rs11568350
SLC40A1
0.790 0.240 2 189565370 missense variant C/A snv 3.8E-03 1.6E-02
CUI: C0019693
Disease: HIV Infections
HIV Infections 		0.010 1.000 1 2012 2012