SLC40A1, solute carrier family 40 member 1, 30061

N. diseases: 101; N. variants: 31
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: rs11568350
rs11568350
0.790 0.240 2 189565370 missense variant C/A snv 3.8E-03 1.6E-02
CUI: C0282193
Disease: Iron Overload
Iron Overload
Nutritional and Metabolic Diseases 0.020 1.000 2 2004 2007
dbSNP: rs368420430
rs368420430
0.851 0.080 2 189564177 missense variant T/A;G snv 5.2E-05; 8.0E-06
CUI: C0282193
Disease: Iron Overload
Iron Overload
Nutritional and Metabolic Diseases 0.020 1.000 2 2004 2012
dbSNP: rs104893662
rs104893662
0.851 0.080 2 189571799 missense variant T/A;G snv
CUI: C0282193
Disease: Iron Overload
Iron Overload
Nutritional and Metabolic Diseases 0.010 1.000 1 2003 2003
dbSNP: rs11568346
rs11568346
1.000 0.040 2 189561913 missense variant T/C snv 1.2E-03 4.9E-03
CUI: C0282193
Disease: Iron Overload
Iron Overload
Nutritional and Metabolic Diseases 0.010 1.000 1 2008 2008
dbSNP: rs1423207026
rs1423207026
0.925 0.080 2 189571755 missense variant C/A snv
CUI: C0282193
Disease: Iron Overload
Iron Overload
Nutritional and Metabolic Diseases 0.010 1.000 1 2011 2011
dbSNP: rs1445492598
rs1445492598
0.925 0.080 2 189562128 missense variant C/T snv
CUI: C0282193
Disease: Iron Overload
Iron Overload
Nutritional and Metabolic Diseases 0.010 1.000 1 2010 2010
dbSNP: rs387907377
rs387907377
0.882 0.080 2 189565504 missense variant C/T snv 8.0E-06
CUI: C0282193
Disease: Iron Overload
Iron Overload
Nutritional and Metabolic Diseases 0.010 1.000 1 2011 2011