SOD1, superoxide dismutase 1, 6647
N. diseases: 689; N. variants: 68
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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.605 | 0.520 | 21 | 31667299 | missense variant | G/A;C;T | snv | 1.2E-05; 8.0E-06 |
|
Nutritional and Metabolic Diseases; Nervous System Diseases | 0.100 | 0.995 | 416 | 1996 | 2020 | |||||||
|
0.732 | 0.200 | 21 | 31667290 | missense variant | A/C;T | snv | 1.4E-03 | 1.2E-03 |
|
Nutritional and Metabolic Diseases; Nervous System Diseases | 0.100 | 1.000 | 30 | 1995 | 2020 | ||||||
|
0.742 | 0.160 | 21 | 31663829 | missense variant | G/A;C | snv |
|
Nutritional and Metabolic Diseases; Nervous System Diseases | 0.100 | 1.000 | 17 | 1997 | 2017 | ||||||||
|
0.827 | 0.080 | 21 | 31667274 | missense variant | G/A;C | snv |
|
Nutritional and Metabolic Diseases; Nervous System Diseases | 0.100 | 1.000 | 13 | 2000 | 2019 | ||||||||
|
0.732 | 0.160 | 21 | 31663857 | missense variant | A/G | snv |
|
Nutritional and Metabolic Diseases; Nervous System Diseases | 0.100 | 0.917 | 12 | 1994 | 2017 | ||||||||
|
0.732 | 0.160 | 21 | 31667356 | missense variant | T/C | snv |
|
Nutritional and Metabolic Diseases; Nervous System Diseases | 0.070 | 1.000 | 7 | 1997 | 2015 | ||||||||
|
0.807 | 0.120 | 21 | 31659783 | missense variant | C/T | snv | 3.6E-05 |
|
Nutritional and Metabolic Diseases; Nervous System Diseases | 0.040 | 1.000 | 4 | 1999 | 2018 | |||||||
|
0.851 | 0.080 | 21 | 31667298 | missense variant | G/A;C;T | snv |
|
Nutritional and Metabolic Diseases; Nervous System Diseases | 0.030 | 1.000 | 3 | 2002 | 2017 | ||||||||
|
0.851 | 0.080 | 21 | 31667296 | missense variant | A/G | snv | 4.0E-06 |
|
Nutritional and Metabolic Diseases; Nervous System Diseases | 0.030 | 1.000 | 3 | 2010 | 2011 | |||||||
|
0.827 | 0.120 | 21 | 31663841 | missense variant | G/A | snv | 4.0E-06 |
|
Nutritional and Metabolic Diseases; Nervous System Diseases | 0.020 | 1.000 | 2 | 2010 | 2011 | |||||||
|
0.925 | 0.080 | 21 | 31663848 | missense variant | A/G | snv | 4.0E-06 |
|
Nutritional and Metabolic Diseases; Nervous System Diseases | 0.020 | 1.000 | 2 | 2013 | 2020 | |||||||
|
0.882 | 0.080 | 21 | 31668562 | missense variant | T/C | snv | 8.0E-06 |
|
Nutritional and Metabolic Diseases; Nervous System Diseases | 0.020 | 1.000 | 2 | 2006 | 2014 | |||||||
|
0.925 | 0.080 | 21 | 31659828 | missense variant | A/G | snv | 8.4E-05 | 4.2E-05 |
|
Nutritional and Metabolic Diseases; Nervous System Diseases | 0.020 | 1.000 | 2 | 2003 | 2005 | ||||||
|
0.925 | 0.080 | 21 | 31663842 | missense variant | G/A | snv |
|
Nutritional and Metabolic Diseases; Nervous System Diseases | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||||||
|
0.851 | 0.080 | 21 | 31667320 | missense variant | A/G | snv |
|
Nutritional and Metabolic Diseases; Nervous System Diseases | 0.010 | 1.000 | 1 | 1995 | 1995 | ||||||||
|
0.882 | 0.080 | 21 | 31667337 | missense variant | C/G;T | snv |
|
Nutritional and Metabolic Diseases; Nervous System Diseases | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||||||
|
0.925 | 0.080 | 21 | 31659789 | missense variant | G/A;T | snv |
|
Nutritional and Metabolic Diseases; Nervous System Diseases | 0.010 | 1.000 | 1 | 1996 | 1996 | ||||||||
|
0.882 | 0.080 | 21 | 31666496 | missense variant | G/A;T | snv | 4.0E-06 |
|
Nutritional and Metabolic Diseases; Nervous System Diseases | 0.010 | 1.000 | 1 | 1997 | 1997 | |||||||
|
0.925 | 0.080 | 21 | 31667307 | missense variant | G/A | snv | 2.4E-05 |
|
Nutritional and Metabolic Diseases; Nervous System Diseases | 0.010 | 1.000 | 1 | 2001 | 2001 | |||||||
|
0.925 | 0.080 | 21 | 31667273 | missense variant | G/A;C | snv | 4.0E-06; 4.0E-06 |
|
Nutritional and Metabolic Diseases; Nervous System Diseases | 0.010 | 1.000 | 1 | 2016 | 2016 | |||||||
|
1.000 | 0.080 | 21 | 31667289 | missense variant | G/A | snv | 4.0E-06 |
|
Nutritional and Metabolic Diseases; Nervous System Diseases | 0.010 | 1.000 | 1 | 2012 | 2012 | |||||||
|
1.000 | 0.080 | 21 | 31667370 | missense variant | C/G | snv |
|
Nutritional and Metabolic Diseases; Nervous System Diseases | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||||||
|
0.925 | 0.080 | 21 | 31667346 | missense variant | G/A;T | snv | 2.4E-05 | 7.0E-06 |
|
Nutritional and Metabolic Diseases; Nervous System Diseases | 0.010 | 1.000 | 1 | 2007 | 2007 | ||||||
|
1.000 | 0.080 | 21 | 31659803 | missense variant | G/T | snv | 8.0E-06 |
|
Nutritional and Metabolic Diseases; Nervous System Diseases | 0.010 | 1.000 | 1 | 2010 | 2010 |