HFE, homeostatic iron regulator, 3077
N. diseases: 415; N. variants: 59
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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.435 | 0.880 | 6 | 26092913 | missense variant | G/A | snv | 3.3E-02 | 3.8E-02 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases | 0.100 | 0.974 | 230 | 1997 | 2019 | ||||||
|
0.452 | 0.760 | 6 | 26090951 | missense variant | C/G;T | snv | 0.11 | 0.10 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases | 0.100 | 0.961 | 77 | 1997 | 2019 | ||||||
|
0.649 | 0.480 | 6 | 26090957 | missense variant | A/T | snv | 1.0E-02 | 1.0E-02 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases | 0.100 | 0.800 | 10 | 1999 | 2011 | ||||||
|
0.732 | 0.360 | 6 | 26094205 | stop gained | C/A;T | snv | 1.4E-03 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases | 0.030 | 1.000 | 3 | 2001 | 2003 | |||||||
|
0.732 | 0.360 | 6 | 26092860 | stop gained | C/G;T | snv | 4.0E-06; 8.0E-06 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases | 0.030 | 1.000 | 3 | 2001 | 2003 | |||||||
|
0.776 | 0.240 | 6 | 26092916 | missense variant | A/C | snv | 4.0E-06 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases | 0.010 | 1.000 | 1 | 2005 | 2005 | |||||||
|
0.827 | 0.160 | 6 | 26092760 | missense variant | A/G | snv | 8.0E-06 | 7.0E-06 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||||
|
0.925 | 0.080 | 6 | 26091475 | stop gained | G/C;T | snv | 4.5E-04 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases | 0.010 | 1.000 | 1 | 2002 | 2002 | |||||||
|
0.925 | 0.080 | 6 | 26091521 | missense variant | T/C | snv | 8.0E-06 | 1.4E-05 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases | 0.010 | 1.000 | 1 | 2008 | 2008 | ||||||
|
0.925 | 0.080 | 6 | 26093798 | intron variant | G/A;C;T | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases | 0.010 | < 0.001 | 1 | 2011 | 2011 | ||||||||
|
0.925 | 0.080 | 6 | 26091041 | missense variant | G/C | snv | 1.2E-05 | 7.0E-06 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases | 0.010 | 1.000 | 1 | 1999 | 1999 | ||||||
|
0.925 | 0.080 | 6 | 26093145 | missense variant | A/G | snv | 8.0E-06 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases | 0.010 | 1.000 | 1 | 2015 | 2015 | |||||||
|
0.827 | 0.200 | 6 | 26095703 | 3 prime UTR variant | G/A;T | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases | 0.010 | < 0.001 | 1 | 2011 | 2011 | ||||||||
|
0.925 | 0.080 | 6 | 26093156 | missense variant | C/G | snv | 4.0E-06 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases | 0.010 | 1.000 | 1 | 2005 | 2005 | |||||||
|
0.882 | 0.080 | 6 | 26092744 | missense variant | C/G;T | snv | 8.0E-06; 3.6E-05 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases | 0.010 | 1.000 | 1 | 2014 | 2014 |