IFIH1, interferon induced with helicase C domain 1, 64135
N. diseases: 319; N. variants: 25
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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.672 | 0.480 | 2 | 162267541 | missense variant | C/T | snv | 0.50 | 0.45 |
|
Nutritional and Metabolic Diseases; Immune System Diseases; Endocrine System Diseases | 0.900 | 0.955 | 22 | 2007 | 2018 | ||||||
|
0.672 | 0.480 | 2 | 162267541 | missense variant | C/T | snv | 0.50 | 0.45 |
|
Skin and Connective Tissue Diseases; Immune System Diseases | 0.780 | 1.000 | 10 | 2009 | 2018 | ||||||
|
0.672 | 0.480 | 2 | 162267541 | missense variant | C/T | snv | 0.50 | 0.45 |
|
Eye Diseases; Immune System Diseases; Endocrine System Diseases | 0.050 | 0.800 | 5 | 2007 | 2020 | ||||||
|
0.672 | 0.480 | 2 | 162267541 | missense variant | C/T | snv | 0.50 | 0.45 |
|
Immune System Diseases; Nervous System Diseases | 0.730 | 1.000 | 4 | 2009 | 2020 | ||||||
|
0.672 | 0.480 | 2 | 162267541 | missense variant | C/T | snv | 0.50 | 0.45 |
|
Immune System Diseases | 0.040 | 1.000 | 4 | 2007 | 2017 | ||||||
|
0.672 | 0.480 | 2 | 162267541 | missense variant | C/T | snv | 0.50 | 0.45 |
|
Infections | 0.030 | 0.667 | 3 | 2011 | 2016 | ||||||
|
0.776 | 0.280 | 2 | 162268127 | missense variant | T/C | snv | 1.1E-02 | 1.2E-02 |
|
Nutritional and Metabolic Diseases; Immune System Diseases; Endocrine System Diseases | 0.720 | 1.000 | 3 | 2010 | 2015 | ||||||
|
0.732 | 0.360 | 2 | 162272314 | missense variant | T/C | snv | 0.68 | 0.68 |
|
Nutritional and Metabolic Diseases; Immune System Diseases; Endocrine System Diseases | 0.030 | 1.000 | 3 | 2012 | 2015 | ||||||
|
0.732 | 0.360 | 2 | 162272314 | missense variant | T/C | snv | 0.68 | 0.68 |
|
Skin and Connective Tissue Diseases | 0.710 | 1.000 | 3 | 2012 | 2016 | ||||||
|
0.672 | 0.480 | 2 | 162267541 | missense variant | C/T | snv | 0.50 | 0.45 |
|
Skin and Connective Tissue Diseases | 0.710 | 1.000 | 2 | 2012 | 2015 | ||||||
|
0.672 | 0.480 | 2 | 162267541 | missense variant | C/T | snv | 0.50 | 0.45 |
|
Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Immune System Diseases | 0.020 | < 0.001 | 2 | 2007 | 2013 | ||||||
|
0.672 | 0.480 | 2 | 162267541 | missense variant | C/T | snv | 0.50 | 0.45 |
|
Immune System Diseases; Endocrine System Diseases | 0.020 | 0.500 | 2 | 2013 | 2013 | ||||||
|
0.672 | 0.480 | 2 | 162267541 | missense variant | C/T | snv | 0.50 | 0.45 |
|
Immune System Diseases; Endocrine System Diseases | 0.020 | 0.500 | 2 | 2013 | 2013 | ||||||
|
0.672 | 0.480 | 2 | 162267541 | missense variant | C/T | snv | 0.50 | 0.45 |
|
0.710 | 1.000 | 2 | 2010 | 2016 | |||||||
|
0.776 | 0.280 | 2 | 162268127 | missense variant | T/C | snv | 1.1E-02 | 1.2E-02 |
|
Skin and Connective Tissue Diseases | 0.710 | 1.000 | 2 | 2010 | 2016 | ||||||
|
1.000 | 0.120 | 2 | 162277580 | stop gained | C/A;G;T | snv | 3.2E-03; 4.0E-06; 4.0E-06 |
|
Nutritional and Metabolic Diseases; Immune System Diseases; Endocrine System Diseases | 0.020 | 1.000 | 2 | 2010 | 2012 | |||||||
|
0.851 | 0.240 | 2 | 162272377 | missense variant | C/T | snv | 2.8E-05 |
|
0.700 | 1.000 | 2 | 2015 | 2017 | ||||||||
|
0.851 | 0.240 | 2 | 162272377 | missense variant | C/T | snv | 2.8E-05 |
|
0.800 | 1.000 | 2 | 2015 | 2017 | ||||||||
|
0.851 | 0.240 | 2 | 162272377 | missense variant | C/T | snv | 2.8E-05 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases | 0.020 | 1.000 | 2 | 2015 | 2017 | |||||||
|
0.851 | 0.240 | 2 | 162272377 | missense variant | C/T | snv | 2.8E-05 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases; Stomatognathic Diseases; Cardiovascular Diseases | 0.020 | 1.000 | 2 | 2017 | 2017 | |||||||
|
1.000 | 2 | 162276832 | missense variant | C/T | snv |
|
0.800 | 1.000 | 2 | 2014 | 2014 | ||||||||||
|
0.807 | 0.200 | 2 | 162273913 | missense variant | C/T | snv | 4.0E-06 |
|
0.800 | 1.000 | 2 | 2014 | 2014 | ||||||||
|
1.000 | 2 | 162288221 | missense variant | T/C | snv |
|
0.800 | 1.000 | 2 | 2014 | 2014 | ||||||||||
|
1.000 | 2 | 162273914 | missense variant | G/A | snv |
|
0.800 | 1.000 | 2 | 2014 | 2014 | ||||||||||
|
0.851 | 0.320 | 2 | 162282494 | missense variant | T/A;C | snv | 8.0E-06 |
|
0.800 | 1.000 | 2 | 2014 | 2014 |