Variant | Gene | N. diseases v | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Score vda | EI vda | N. PMIDs | First Ref. | Last Ref. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
26 | 0.742 | 0.360 | 11 | 119081189 | missense variant | T/G | snv | 1.2E-04 | 5.6E-05 | 0.700 | 0 | ||||||
|
30 | 0.742 | 0.560 | 1 | 1806503 | missense variant | A/C;G;T | snv | 4.0E-06 | 0.700 | 0 | |||||||
|
33 | 0.752 | 0.200 | 14 | 73217137 | missense variant | C/A;G;T | snv | 0.700 | 1.000 | 1 | 2014 | 2014 | |||||
|
26 | 0.752 | 0.240 | 6 | 87260207 | missense variant | A/C | snv | 0.700 | 0 | ||||||||
|
17 | 0.752 | 0.320 | 19 | 41970405 | missense variant | C/A;G;T | snv | 0.700 | 0 | ||||||||
|
27 | 0.763 | 0.320 | 3 | 132671032 | stop gained | C/G;T | snv | 4.0E-06 | 0.700 | 0 | |||||||
|
9 | 0.790 | 0.160 | 9 | 129813781 | 3 prime UTR variant | C/A | snv | 0.17 | 0.020 | 1.000 | 2 | 2009 | 2015 | ||||
|
19 | 0.790 | 0.320 | 19 | 41968837 | missense variant | C/A;T | snv | 0.700 | 0 | ||||||||
|
14 | 0.807 | 0.360 | 16 | 74774623 | missense variant | C/A | snv | 7.0E-06 | 0.700 | 0 | |||||||
|
27 | 0.807 | 0.160 | 7 | 44243526 | missense variant | G/A | snv | 0.700 | 0 | ||||||||
|
12 | 0.807 | 0.160 | 16 | 56336799 | missense variant | C/A | snv | 0.700 | 0 | ||||||||
|
26 | 0.807 | 0.200 | 19 | 35729980 | missense variant | G/T | snv | 0.700 | 0 | ||||||||
|
7 | 0.827 | 0.040 | 9 | 129818622 | missense variant | C/G;T | snv | 0.13; 4.0E-06 | 0.020 | 0.500 | 2 | 2013 | 2017 | ||||
|
7 | 0.827 | 0.320 | 7 | 5528536 | missense variant | G/A | snv | 0.010 | 1.000 | 1 | 2018 | 2018 | |||||
|
13 | 0.827 | 0.240 | 19 | 6495437 | missense variant | G/A;C | snv | 1.2E-05 | 0.700 | 1.000 | 1 | 2014 | 2014 | ||||
|
13 | 0.827 | 0.280 | 5 | 157294834 | missense variant | C/T | snv | 0.700 | 0 | ||||||||
|
7 | 0.827 | 0.400 | 1 | 1806512 | missense variant | C/G | snv | 0.700 | 0 | ||||||||
|
13 | 0.827 | 0.160 | 17 | 44212851 | missense variant | C/T | snv | 0.700 | 0 | ||||||||
|
9 | 0.827 | 0.240 | 3 | 25580574 | missense variant | T/C | snv | 0.700 | 0 | ||||||||
|
7 | 0.851 | 0.080 | 17 | 68386068 | intron variant | T/C | snv | 0.18 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
14 | 0.851 | 0.240 | 21 | 44531087 | stop gained | G/A | snv | 3.2E-04 | 2.7E-04 | 0.700 | 1.000 | 1 | 2016 | 2016 | |||
|
14 | 0.851 | 0.240 | 21 | 44509225 | frameshift variant | GAC/AA | delins | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||
|
8 | 0.851 | 0.120 | 12 | 40340380 | missense variant | T/C | snv | 3.2E-05 | 1.4E-05 | 0.010 | 1.000 | 1 | 2016 | 2016 | |||
|
9 | 0.851 | 0.320 | 18 | 23536736 | missense variant | A/G | snv | 2.0E-04 | 2.4E-04 | 0.010 | 1.000 | 1 | 2003 | 2003 | |||
|
11 | 0.851 | 0.080 | 8 | 23007627 | missense variant | G/A | snv | 0.700 | 0 |