TFR2, transferrin receptor 2, 7036

N. diseases: 92; N. variants: 50
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: rs80338880
rs80338880
0.732 0.360 7 100633100 stop gained G/C snv 7.0E-06
CUI: C0018995
Disease: Hemochromatosis
Hemochromatosis
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.030 1.000 3 2001 2003
dbSNP: rs34242818
rs34242818
0.925 0.080 7 100633241 missense variant G/C snv 1.8E-02 4.0E-02
CUI: C0018995
Disease: Hemochromatosis
Hemochromatosis
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.010 1.000 1 2005 2005
dbSNP: rs41303501
rs41303501
0.882 0.080 7 100629279 missense variant C/T snv 1.9E-03 2.1E-03
CUI: C0018995
Disease: Hemochromatosis
Hemochromatosis
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.010 1.000 1 2006 2006
dbSNP: rs80338882
rs80338882
0.851 0.080 7 100630973 stop gained G/A snv 4.0E-06 1.4E-05
CUI: C0018995
Disease: Hemochromatosis
Hemochromatosis
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.010 1.000 1 2006 2006
dbSNP: rs80338886
rs80338886
0.882 0.080 7 100628228 missense variant A/C snv
CUI: C0018995
Disease: Hemochromatosis
Hemochromatosis
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.010 1.000 1 2005 2005
dbSNP: rs80338891
rs80338891
0.851 0.080 7 100620889 missense variant C/T snv 4.8E-05 5.6E-05
CUI: C0018995
Disease: Hemochromatosis
Hemochromatosis
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.010 1.000 1 2006 2006