| 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. | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
1.000 | 0.080 | 8 | 17589479 | missense variant | C/T | snv |
|
0.800 | 1.000 | 11 | 1995 | 2015 | |||||||||
|
0.472 | 0.880 | 1 | 11796321 | missense variant | G/A | snv | 0.31 | 0.27 |
|
0.100 | 0.818 | 11 | 2006 | 2019 | |||||||
|
0.732 | 0.200 | 5 | 112839543 | missense variant | G/C | snv | 4.4E-03 | 5.6E-03 |
|
0.100 | 0.909 | 11 | 2000 | 2016 | |||||||
|
0.925 | 0.160 | 3 | 37050628 | missense variant | T/A;C | snv |
|
0.700 | 1.000 | 11 | 1996 | 2008 | |||||||||
|
0.807 | 0.240 | 3 | 37048955 | missense variant | G/A;C | snv |
|
0.700 | 1.000 | 11 | 1996 | 2008 | |||||||||
|
1.000 | 0.080 | 3 | 37020399 | missense variant | G/A | snv | 4.4E-05 | 2.1E-05 |
|
0.700 | 1.000 | 11 | 1996 | 2008 | |||||||
|
0.882 | 0.160 | 3 | 37014485 | missense variant | G/A;T | snv |
|
0.700 | 1.000 | 11 | 1996 | 2008 | |||||||||
|
0.925 | 0.160 | 3 | 37000977 | missense variant | G/A;C | snv |
|
0.700 | 1.000 | 11 | 1996 | 2008 | |||||||||
|
0.925 | 0.120 | 3 | 37047640 | missense variant | A/C;G;T | snv | 3.5E-03; 8.4E-05 |
|
0.700 | 1.000 | 11 | 1996 | 2008 | ||||||||
|
1.000 | 0.080 | 3 | 37028789 | missense variant | G/A;T | snv | 2.4E-05 |
|
0.700 | 1.000 | 11 | 1996 | 2008 | ||||||||
|
1.000 | 0.080 | 3 | 37017518 | missense variant | A/G | snv | 2.5E-04 | 1.3E-04 |
|
0.700 | 1.000 | 11 | 1996 | 2008 | |||||||
|
1.000 | 0.080 | 3 | 37047589 | missense variant | A/G | snv |
|
0.700 | 1.000 | 11 | 1996 | 2008 | |||||||||
|
0.763 | 0.400 | 7 | 5978664 | missense variant | T/A;G | snv |
|
0.100 | 0.900 | 10 | 2008 | 2019 | |||||||||
|
0.658 | 0.400 | 12 | 25245347 | missense variant | C/A;G;T | snv |
|
0.100 | 1.000 | 10 | 2004 | 2019 | |||||||||
|
0.683 | 0.360 | 3 | 41224610 | missense variant | C/A;G;T | snv |
|
0.800 | 1.000 | 10 | 2006 | 2015 | |||||||||
|
1.000 | 0.080 | 7 | 140781623 | missense variant | C/A | snv |
|
0.800 | 1.000 | 10 | 2006 | 2015 | |||||||||
|
1.000 | 0.080 | 7 | 140781620 | missense variant | A/C | snv |
|
0.800 | 1.000 | 10 | 2006 | 2015 | |||||||||
|
0.510 | 0.840 | 3 | 12379739 | missense variant | C/G | snv |
|
0.100 | 0.800 | 10 | 2003 | 2010 | |||||||||
|
0.623 | 0.560 | 19 | 13836478 | non coding transcript exon variant | T/A;C;G | snv | 0.34 | 0.38 |
|
0.100 | 0.900 | 10 | 2012 | 2020 | |||||||
|
0.732 | 0.240 | 20 | 6423634 | intergenic variant | C/A | snv | 0.34 |
|
0.860 | 1.000 | 10 | 2008 | 2019 | ||||||||
|
0.555 | 0.720 | 14 | 20456995 | missense variant | T/A;C;G | snv | 4.0E-06; 4.0E-06; 0.42 |
|
0.090 | 0.778 | 9 | 2008 | 2017 | ||||||||
|
0.597 | 0.480 | 22 | 28725099 | missense variant | A/C;G | snv | 4.1E-03 |
|
0.090 | 0.889 | 9 | 2006 | 2013 | ||||||||
|
0.653 | 0.400 | 3 | 36993455 | 5 prime UTR variant | G/A | snv | 0.22 |
|
0.090 | 0.778 | 9 | 2010 | 2019 | ||||||||
|
0.570 | 0.480 | 3 | 14145949 | missense variant | G/T | snv | 0.63 | 0.65 |
|
0.090 | 0.889 | 9 | 2007 | 2018 | |||||||
|
0.608 | 0.720 | 3 | 186853103 | synonymous variant | T/C;G | snv | 8.0E-06; 0.13 |
|
0.090 | 0.889 | 9 | 2013 | 2017 |