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: C0002871
Disease: Anemia
Anemia 		Hemic and Lymphatic Diseases 0.010 1.000 1 2004 2004
dbSNP: rs2882877
rs2882877 		2 189576591 intron variant A/G snv 0.41
CUI: C4528257
Disease: Corpuscular Hemoglobin Concentration Mean
Corpuscular Hemoglobin Concentration Mean 		0.700 1.000 1 2016 2016
dbSNP: rs112257498
rs112257498 		2 189568259 intron variant C/G;T snv
CUI: C1261502
Disease: Finding of Mean Corpuscular Hemoglobin
Finding of Mean Corpuscular Hemoglobin 		0.700 1.000 1 2016 2016
dbSNP: rs104893662
rs104893662 		0.851 0.080 2 189571799 missense variant T/A;G snv
CUI: C0018995
Disease: Hemochromatosis
Hemochromatosis 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.010 1.000 1 2003 2003
dbSNP: rs11568350
rs11568350 		0.790 0.240 2 189565370 missense variant C/A snv 3.8E-03 1.6E-02
CUI: C0018995
Disease: Hemochromatosis
Hemochromatosis 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.010 1.000 1 2007 2007
dbSNP: rs1449300685
rs1449300685 		0.925 0.080 2 189565581 missense variant C/T snv
CUI: C0018995
Disease: Hemochromatosis
Hemochromatosis 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.010 1.000 1 2018 2018
dbSNP: rs368420430
rs368420430 		0.851 0.080 2 189564177 missense variant T/A;G snv 5.2E-05; 8.0E-06
CUI: C0018995
Disease: Hemochromatosis
Hemochromatosis 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.010 1.000 1 2012 2012
dbSNP: rs104893662
rs104893662 		0.851 0.080 2 189571799 missense variant T/A;G snv
CUI: C3469186
Disease: HEMOCHROMATOSIS, TYPE 1
HEMOCHROMATOSIS, TYPE 1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.010 1.000 1 2003 2003
dbSNP: rs11568350
rs11568350 		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 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.010 1.000 1 2007 2007
dbSNP: rs1449300685
rs1449300685 		0.925 0.080 2 189565581 missense variant C/T snv
CUI: C3469186
Disease: HEMOCHROMATOSIS, TYPE 1
HEMOCHROMATOSIS, TYPE 1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.010 1.000 1 2018 2018
dbSNP: rs368420430
rs368420430 		0.851 0.080 2 189564177 missense variant T/A;G snv 5.2E-05; 8.0E-06
CUI: C3469186
Disease: HEMOCHROMATOSIS, TYPE 1
HEMOCHROMATOSIS, TYPE 1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.010 1.000 1 2012 2012
dbSNP: rs104893662
rs104893662 		0.851 0.080 2 189571799 missense variant T/A;G snv
CUI: C1853733
Disease: HEMOCHROMATOSIS, TYPE 4
HEMOCHROMATOSIS, TYPE 4 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.800 1.000 13 2000 2005
dbSNP: rs104893663
rs104893663 		1.000 0.080 2 189571759 missense variant T/A;C snv
CUI: C1853733
Disease: HEMOCHROMATOSIS, TYPE 4
HEMOCHROMATOSIS, TYPE 4 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.800 1.000 13 2000 2005
dbSNP: rs104893664
rs104893664 		0.925 0.080 2 189564186 missense variant C/T snv 4.4E-05
CUI: C1853733
Disease: HEMOCHROMATOSIS, TYPE 4
HEMOCHROMATOSIS, TYPE 4 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.800 1.000 13 2000 2005
dbSNP: rs104893670
rs104893670 		1.000 0.080 2 189565568 missense variant C/A;T snv 1.2E-05
CUI: C1853733
Disease: HEMOCHROMATOSIS, TYPE 4
HEMOCHROMATOSIS, TYPE 4 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.800 1.000 13 2000 2005
dbSNP: rs104893671
rs104893671 		1.000 0.080 2 189564018 missense variant C/A snv
CUI: C1853733
Disease: HEMOCHROMATOSIS, TYPE 4
HEMOCHROMATOSIS, TYPE 4 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.800 1.000 13 2000 2005
dbSNP: rs104893672
rs104893672 		1.000 0.080 2 189565572 missense variant T/A snv
CUI: C1853733
Disease: HEMOCHROMATOSIS, TYPE 4
HEMOCHROMATOSIS, TYPE 4 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.800 1.000 13 2000 2005
dbSNP: rs104893673
rs104893673 		0.925 0.080 2 189575193 missense variant C/A snv
CUI: C1853733
Disease: HEMOCHROMATOSIS, TYPE 4
HEMOCHROMATOSIS, TYPE 4 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.800 1.000 13 2000 2005
dbSNP: rs28939076
rs28939076 		1.000 0.080 2 189575202 missense variant G/T snv
CUI: C1853733
Disease: HEMOCHROMATOSIS, TYPE 4
HEMOCHROMATOSIS, TYPE 4 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.800 1.000 13 2000 2005
dbSNP: rs387907377
rs387907377 		0.882 0.080 2 189565504 missense variant C/T snv 8.0E-06
CUI: C1853733
Disease: HEMOCHROMATOSIS, TYPE 4
HEMOCHROMATOSIS, TYPE 4 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 1.000 3 2011 2013
dbSNP: rs1423207026
rs1423207026 		0.925 0.080 2 189571755 missense variant C/A snv
CUI: C1853733
Disease: HEMOCHROMATOSIS, TYPE 4
HEMOCHROMATOSIS, TYPE 4 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 1.000 1 2011 2011
dbSNP: rs1445492598
rs1445492598 		0.925 0.080 2 189562128 missense variant C/T snv
CUI: C1853733
Disease: HEMOCHROMATOSIS, TYPE 4
HEMOCHROMATOSIS, TYPE 4 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.010 1.000 1 2010 2010
dbSNP: rs368420430
rs368420430 		0.851 0.080 2 189564177 missense variant T/A;G snv 5.2E-05; 8.0E-06
CUI: C1853733
Disease: HEMOCHROMATOSIS, TYPE 4
HEMOCHROMATOSIS, TYPE 4 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.800 1.000 1 2012 2012
dbSNP: rs387907376
rs387907376 		1.000 0.080 2 189565561 missense variant T/C snv
CUI: C1853733
Disease: HEMOCHROMATOSIS, TYPE 4
HEMOCHROMATOSIS, TYPE 4 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.010 1.000 1 2006 2006
dbSNP: rs978427853
rs978427853 		1.000 0.080 2 189575194 missense variant C/T snv
CUI: C1853733
Disease: HEMOCHROMATOSIS, TYPE 4
HEMOCHROMATOSIS, TYPE 4 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.010 1.000 1 2017 2017