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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.882 | 0.080 | 7 | 44153325 | missense variant | C/T | snv |
|
Nutritional and Metabolic Diseases | 0.720 | 1.000 | 8 | 1998 | 2016 | ||||||||
|
0.925 | 0.080 | 7 | 44149977 | missense variant | G/A;T | snv | 8.0E-06 |
|
Nutritional and Metabolic Diseases | 0.700 | 1.000 | 12 | 2000 | 2012 | |||||||
|
0.925 | 0.080 | 7 | 44153396 | missense variant | T/G | snv |
|
Nutritional and Metabolic Diseases | 0.700 | 1.000 | 3 | 2000 | 2014 | ||||||||
|
0.851 | 0.080 | 7 | 44153381 | missense variant | C/G;T | snv | 4.0E-06 |
|
Nutritional and Metabolic Diseases | 0.700 | 1.000 | 6 | 2002 | 2014 | |||||||
|
0.882 | 0.080 | 7 | 44147726 | missense variant | A/G | snv | 7.0E-06 |
|
Nutritional and Metabolic Diseases | 0.700 | 1.000 | 3 | 2002 | 2012 | |||||||
|
0.925 | 0.080 | 7 | 44145173 | missense variant | G/A;T | snv | 4.2E-06 |
|
Nutritional and Metabolic Diseases | 0.700 | 1.000 | 5 | 2003 | 2012 | |||||||
|
0.882 | 0.080 | 7 | 44147834 | splice acceptor variant | C/T | snv |
|
Nutritional and Metabolic Diseases | 0.700 | 1.000 | 4 | 2003 | 2009 | ||||||||
|
0.925 | 0.080 | 7 | 44145190 | frameshift variant | G/- | del |
|
Nutritional and Metabolic Diseases | 0.700 | 1.000 | 3 | 2003 | 2009 | ||||||||
|
0.882 | 0.080 | 7 | 44145495 | splice donor variant | A/T | snv |
|
Nutritional and Metabolic Diseases | 0.700 | 1.000 | 3 | 2003 | 2009 | ||||||||
|
0.882 | 0.120 | 7 | 44145560 | missense variant | C/A | snv |
|
Nutritional and Metabolic Diseases | 0.010 | 1.000 | 1 | 2005 | 2005 | ||||||||
|
0.925 | 0.080 | 7 | 44146466 | missense variant | T/C | snv |
|
Nutritional and Metabolic Diseases | 0.700 | 1.000 | 3 | 2006 | 2011 | ||||||||
|
0.882 | 0.080 | 7 | 44147765 | missense variant | G/A | snv |
|
Nutritional and Metabolic Diseases | 0.700 | 1.000 | 3 | 2007 | 2009 | ||||||||
|
0.925 | 0.080 | 7 | 44147795 | missense variant | T/C | snv |
|
Nutritional and Metabolic Diseases | 0.700 | 1.000 | 2 | 2008 | 2015 | ||||||||
|
0.925 | 0.080 | 7 | 44153387 | missense variant | A/G | snv |
|
Nutritional and Metabolic Diseases | 0.700 | 1.000 | 1 | 2009 | 2009 | ||||||||
|
0.882 | 0.080 | 7 | 44152420 | missense variant | C/T | snv | 4.0E-06 |
|
Nutritional and Metabolic Diseases | 0.010 | 1.000 | 1 | 2009 | 2009 | |||||||
|
0.925 | 0.080 | 7 | 44145637 | stop gained | G/A;C;T | snv |
|
Nutritional and Metabolic Diseases | 0.700 | 1.000 | 1 | 2009 | 2009 | ||||||||
|
0.925 | 0.080 | 7 | 44146467 | missense variant | C/T | snv |
|
Nutritional and Metabolic Diseases | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||||||
|
1.000 | 0.040 | 7 | 44145228 | missense variant | T/C | snv | 4.1E-06 |
|
Nutritional and Metabolic Diseases | 0.010 | 1.000 | 1 | 2011 | 2011 | |||||||
|
0.925 | 0.080 | 7 | 44145636 | stop gained | C/A;G | snv | 4.3E-06 |
|
Nutritional and Metabolic Diseases | 0.010 | < 0.001 | 1 | 2013 | 2013 | |||||||
|
0.925 | 0.080 | 7 | 44153334 | missense variant | G/A | snv | 4.0E-06 |
|
Nutritional and Metabolic Diseases | 0.010 | < 0.001 | 1 | 2013 | 2013 | |||||||
|
1.000 | 0.040 | 7 | 44149816 | missense variant | G/A | snv | 4.0E-06 |
|
Nutritional and Metabolic Diseases | 0.010 | 1.000 | 1 | 2013 | 2013 | |||||||
|
0.925 | 0.040 | 7 | 44149992 | stop gained | G/A;T | snv | 1.2E-05 |
|
Nutritional and Metabolic Diseases | 0.010 | 1.000 | 1 | 2018 | 2018 | |||||||
|
0.925 | 0.080 | 7 | 44149986 | missense variant | C/T | snv | 4.0E-06 |
|
Nutritional and Metabolic Diseases | 0.010 | 1.000 | 1 | 2018 | 2018 |