| 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 | 7 | 116777427 | missense variant | A/G;T | snv | 0.700 | 1.000 | 1 | 2002 | 2002 | |||||||
|
1 | 6 | 161973326 | missense variant | G/C | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||||
|
1 | 7 | 16794973 | missense variant | A/G;T | snv | 0.43 | 0.38 | 0.010 | 1.000 | 1 | 2009 | 2009 | |||||
|
1 | 5 | 112839714 | missense variant | G/A | snv | 0.010 | 1.000 | 1 | 2004 | 2004 | |||||||
|
2 | 1.000 | 0.120 | 4 | 1806604 | missense variant | G/T | snv | 0.700 | 1.000 | 1 | 2005 | 2005 | |||||
|
2 | 1.000 | 0.120 | 12 | 123389469 | missense variant | C/T | snv | 1.4E-05 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
2 | 5 | 112767315 | missense variant | G/A | snv | 0.010 | 1.000 | 1 | 2010 | 2010 | |||||||
|
2 | 4 | 99613118 | missense variant | T/C;G | snv | 1.2E-05; 4.0E-06 | 0.010 | 1.000 | 1 | 2008 | 2008 | ||||||
|
3 | 0.925 | 0.080 | 1 | 193125142 | stop gained | C/G | snv | 0.010 | 1.000 | 1 | 2018 | 2018 | |||||
|
3 | 0.925 | 0.120 | 7 | 116783420 | missense variant | T/C | snv | 0.700 | 1.000 | 1 | 1998 | 1998 | |||||
|
3 | 0.925 | 0.240 | 5 | 177096737 | missense variant | G/A | snv | 1.4E-05 | 0.010 | 1.000 | 1 | 2000 | 2000 | ||||
|
3 | 1.000 | 0.120 | 3 | 36993593 | frameshift variant | TGAACCG/- | delins | 0.010 | 1.000 | 1 | 2019 | 2019 | |||||
|
4 | 0.882 | 0.200 | 19 | 1207169 | stop gained | C/G;T | snv | 0.010 | 1.000 | 1 | 2009 | 2009 | |||||
|
4 | 0.882 | 0.160 | 7 | 116783353 | missense variant | G/A;C | snv | 0.700 | 1.000 | 1 | 1998 | 1998 | |||||
|
4 | 1.000 | 0.160 | 3 | 37050576 | stop gained | A/C;G;T | snv | 0.010 | 1.000 | 1 | 2014 | 2014 | |||||
|
4 | 0.925 | 0.160 | 2 | 85394936 | missense variant | T/A;C | snv | 0.58 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
4 | 17 | 7675224 | missense variant | G/A;C | snv | 0.010 | 1.000 | 1 | 2013 | 2013 | |||||||
|
5 | 0.851 | 0.240 | 4 | 1804365 | missense variant | A/T | snv | 0.700 | 1.000 | 1 | 2002 | 2002 | |||||
|
5 | 0.851 | 0.120 | 3 | 9765892 | splice acceptor variant | T/C | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2005 | 2005 | ||||
|
5 | 1.000 | 0.120 | 7 | 6002584 | start lost | T/A;C | snv | 0.010 | < 0.001 | 1 | 2009 | 2009 | |||||
|
5 | 0.925 | 0.120 | 17 | 39724861 | missense variant | G/A | snv | 1.2E-03 | 2.6E-04 | 0.010 | 1.000 | 1 | 2009 | 2009 | |||
|
5 | 0.851 | 0.120 | 4 | 1806157 | missense variant | A/C;G;T | snv | 0.700 | 1.000 | 1 | 1998 | 1998 | |||||
|
5 | 0.851 | 0.120 | 3 | 9765885 | splice acceptor variant | -/C | delins | 0.010 | 1.000 | 1 | 2005 | 2005 | |||||
|
5 | 1.000 | 0.120 | 3 | 37001037 | start lost | A/G | snv | 2.4E-04 | 3.5E-05 | 0.010 | < 0.001 | 1 | 2009 | 2009 | |||
|
5 | 1.000 | 0.120 | 7 | 5992027 | missense variant | T/A;C | snv | 4.0E-06 | 1.4E-05 | 0.010 | < 0.001 | 1 | 2009 | 2009 |