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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
1 | 1.000 | 0.080 | 5 | 150054414 | missense variant | C/G | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | 5 | 150056335 | missense variant | G/A | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | 14 | 73173651 | missense variant | G/A | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | 14 | 73186881 | inframe insertion | -/TAT | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | 14 | 73217173 | missense variant | G/T | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | 14 | 73219182 | missense variant | C/T | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | 17 | 44349552 | splice donor variant | G/A | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | 17 | 46018704 | missense variant | C/T | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | 11 | 121558698 | missense variant | A/G | snv | 4.0E-05 | 4.2E-05 | 0.700 | 0 | ||||||
|
5 | 0.851 | 0.120 | 14 | 73192760 | missense variant | A/C;G | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | 14 | 73206385 | splice acceptor variant | G/A;T | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | 11 | 121589385 | missense variant | A/G | snv | 6.8E-05 | 5.6E-05 | 0.700 | 0 | ||||||
|
1 | 1.000 | 0.080 | 9 | 35066711 | missense variant | G/A | snv | 0.700 | 0 | ||||||||
|
4 | 0.851 | 0.160 | 19 | 44905894 | missense variant | G/C | snv | 7.0E-06 | 0.020 | < 0.001 | 2 | 2010 | 2011 | ||||
|
15 | 0.742 | 0.120 | 12 | 40363526 | missense variant | G/A | snv | 1.7E-03 | 5.8E-04 | 0.020 | < 0.001 | 2 | 2009 | 2010 | |||
|
51 | 0.590 | 0.800 | 6 | 159692720 | missense variant | G/A;T | snv | 8.0E-06 | 0.020 | < 0.001 | 2 | 2005 | 2016 | ||||
|
18 | 0.708 | 0.400 | 15 | 51210789 | 3 prime UTR variant | G/A | snv | 0.45 | 0.43 | 0.010 | < 0.001 | 1 | 2019 | 2019 | |||
|
5 | 0.882 | 0.240 | 3 | 9750423 | missense variant | G/A;C | snv | 2.2E-03; 4.0E-06 | 0.010 | < 0.001 | 1 | 2009 | 2009 | ||||
|
1 | 1.000 | 0.080 | 10 | 67521827 | intron variant | A/C | snv | 0.16 | 0.13 | 0.010 | < 0.001 | 1 | 2016 | 2016 | |||
|
1 | 1.000 | 0.080 | 10 | 99880120 | missense variant | A/C;G | snv | 0.34; 8.0E-06 | 0.010 | < 0.001 | 1 | 2015 | 2015 | ||||
|
42 | 0.611 | 0.600 | 11 | 67586108 | missense variant | C/T | snv | 5.9E-02 | 5.5E-02 | 0.010 | < 0.001 | 1 | 2004 | 2004 | |||
|
1 | 1.000 | 0.080 | 15 | 51218505 | missense variant | T/A | snv | 0.45 | 0.42 | 0.010 | < 0.001 | 1 | 2019 | 2019 | |||
|
23 | 0.677 | 0.480 | 19 | 44908690 | missense variant | C/A;T | snv | 2.1E-05 | 0.010 | < 0.001 | 1 | 2009 | 2009 | ||||
|
4 | 0.882 | 0.080 | 2 | 25262866 | intron variant | C/T | snv | 0.45 | 0.010 | < 0.001 | 1 | 2016 | 2016 | ||||
|
6 | 0.807 | 0.120 | 7 | 56106409 | missense variant | G/A | snv | 9.3E-03 | 7.5E-03 | 0.010 | < 0.001 | 1 | 2018 | 2018 |