Source: BEFREE

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: rs80338880
rs80338880
TFR2
0.732 0.360 7 100633100 stop gained G/C snv 7.0E-06
CUI: C1858664
Disease: HEMOCHROMATOSIS, TYPE 3
HEMOCHROMATOSIS, TYPE 3 		0.730 1.000 3 2001 2006
dbSNP: rs80338880
rs80338880
TFR2
0.732 0.360 7 100633100 stop gained G/C snv 7.0E-06
CUI: C0018995
Disease: Hemochromatosis
Hemochromatosis 		0.030 1.000 3 2001 2003
dbSNP: rs80338880
rs80338880
TFR2
0.732 0.360 7 100633100 stop gained G/C snv 7.0E-06
CUI: C0282193
Disease: Iron Overload
Iron Overload 		0.030 1.000 3 2001 2004
dbSNP: rs80338880
rs80338880
TFR2
0.732 0.360 7 100633100 stop gained G/C snv 7.0E-06
CUI: C3469186
Disease: HEMOCHROMATOSIS, TYPE 1
HEMOCHROMATOSIS, TYPE 1 		0.030 1.000 3 2001 2003
dbSNP: rs80338880
rs80338880
TFR2
0.732 0.360 7 100633100 stop gained G/C snv 7.0E-06
CUI: C0162566
Disease: Porphyria Cutanea Tarda
Porphyria Cutanea Tarda 		0.020 1.000 2 2006 2008
dbSNP: rs80338880
rs80338880
TFR2
0.732 0.360 7 100633100 stop gained G/C snv 7.0E-06
CUI: C0019196
Disease: Hepatitis C
Hepatitis C 		0.010 1.000 1 2008 2008
dbSNP: rs80338880
rs80338880
TFR2
0.732 0.360 7 100633100 stop gained G/C snv 7.0E-06
CUI: C0751606
Disease: Adult Acute Lymphocytic Leukemia
Adult Acute Lymphocytic Leukemia 		0.010 1.000 1 2005 2005
dbSNP: rs80338880
rs80338880
TFR2
0.732 0.360 7 100633100 stop gained G/C snv 7.0E-06
CUI: C0023449
Disease: Acute lymphocytic leukemia
Acute lymphocytic leukemia 		0.010 1.000 1 2005 2005
dbSNP: rs80338880
rs80338880
TFR2
0.732 0.360 7 100633100 stop gained G/C snv 7.0E-06
CUI: C0392514
Disease: Hereditary hemochromatosis
Hereditary hemochromatosis 		0.010 1.000 1 2001 2001
dbSNP: rs80338880
rs80338880
TFR2
0.732 0.360 7 100633100 stop gained G/C snv 7.0E-06
CUI: C0023452
Disease: Childhood Acute Lymphoblastic Leukemia
Childhood Acute Lymphoblastic Leukemia 		0.010 1.000 1 2005 2005
dbSNP: rs80338880
rs80338880
TFR2
0.732 0.360 7 100633100 stop gained G/C snv 7.0E-06
CUI: C0085669
Disease: Acute leukemia
Acute leukemia 		0.010 1.000 1 2005 2005
dbSNP: rs80338880
rs80338880
TFR2
0.732 0.360 7 100633100 stop gained G/C snv 7.0E-06
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		0.010 1.000 1 2005 2005