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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
2 | 1.000 | 0.040 | 16 | 3757288 | missense variant | C/T | snv | 0.700 | 0 | ||||||||
|
3 | 0.925 | 0.080 | 10 | 31520308 | stop gained | C/T | snv | 0.700 | 0 | ||||||||
|
14 | 0.851 | 0.160 | 4 | 55359444 | stop gained | G/A | snv | 4.0E-06 | 0.700 | 0 | |||||||
|
97 | 0.614 | 0.480 | 9 | 95485875 | splice acceptor variant | C/T | snv | 4.0E-06 | 7.0E-06 | 0.700 | 0 | ||||||
|
2 | 0.925 | 0.040 | 1 | 171652578 | missense variant | C/G | snv | 6.9E-04 | 1.5E-04 | 0.010 | 1.000 | 1 | 2000 | 2000 | |||
|
4 | 0.851 | 0.040 | 1 | 171638703 | missense variant | G/A;C | snv | 4.0E-06; 7.6E-04 | 0.010 | 1.000 | 1 | 2000 | 2000 | ||||
|
6 | 0.807 | 0.040 | 1 | 171652139 | missense variant | C/G;T | snv | 4.0E-06; 1.6E-05 | 0.010 | 1.000 | 1 | 2001 | 2001 | ||||
|
63 | 0.576 | 0.800 | 5 | 148826877 | missense variant | G/A | snv | 0.42 | 0.43 | 0.010 | 1.000 | 1 | 2002 | 2002 | |||
|
2 | 0.925 | 0.040 | 1 | 171652476 | stop gained | G/A;C;T | snv | 7.2E-04; 4.0E-06; 4.0E-06 | 0.030 | 1.000 | 3 | 2000 | 2004 | ||||
|
2 | 0.925 | 0.040 | 10 | 13109198 | missense variant | C/A;G;T | snv | 8.0E-06; 2.0E-05; 2.4E-05 | 0.010 | 1.000 | 1 | 2004 | 2004 | ||||
|
6 | 0.807 | 0.120 | 1 | 171652468 | missense variant | C/A | snv | 9.8E-04 | 1.3E-04 | 0.030 | 1.000 | 3 | 2005 | 2005 | |||
|
2 | 0.925 | 0.040 | 5 | 111110280 | missense variant | G/A | snv | 7.5E-04 | 8.9E-04 | 0.010 | 1.000 | 1 | 2005 | 2005 | |||
|
1 | 1.000 | 0.040 | 5 | 111106140 | missense variant | G/A | snv | 8.3E-03 | 4.1E-03 | 0.010 | 1.000 | 1 | 2005 | 2005 | |||
|
1 | 1.000 | 0.040 | 11 | 89178097 | missense variant | G/T | snv | 0.010 | 1.000 | 1 | 2005 | 2005 | |||||
|
10 | 0.763 | 0.120 | 2 | 38071251 | missense variant | C/T | snv | 5.8E-03 | 1.7E-03 | 0.010 | 1.000 | 1 | 2005 | 2005 | |||
|
2 | 0.925 | 0.040 | 5 | 111119021 | missense variant | A/G | snv | 4.3E-03 | 4.5E-03 | 0.020 | 1.000 | 2 | 2005 | 2006 | |||
|
2 | 0.925 | 0.040 | 1 | 171636349 | missense variant | C/A | snv | 0.010 | 1.000 | 1 | 2006 | 2006 | |||||
|
1 | 1.000 | 0.040 | 6 | 1611203 | missense variant | C/T | snv | 1.1E-05 | 0.010 | 1.000 | 1 | 2006 | 2006 | ||||
|
2 | 1.000 | 0.040 | 6 | 121447605 | missense variant | C/T | snv | 8.1E-03 | 9.1E-03 | 0.010 | 1.000 | 1 | 2006 | 2006 | |||
|
3 | 0.882 | 0.040 | 1 | 171636010 | missense variant | A/C;T | snv | 0.010 | 1.000 | 1 | 2006 | 2006 | |||||
|
4 | 0.851 | 0.040 | 1 | 171636173 | missense variant | T/C | snv | 0.010 | 1.000 | 1 | 2006 | 2006 | |||||
|
1 | 1.000 | 0.040 | 6 | 1610901 | stop gained | G/A | snv | 0.010 | 1.000 | 1 | 2006 | 2006 | |||||
|
1 | 1.000 | 0.040 | 15 | 73962780 | intergenic variant | G/A;T | snv | 0.700 | 1.000 | 1 | 2007 | 2007 | |||||
|
3 | 0.882 | 0.040 | 1 | 171636302 | missense variant | C/G | snv | 0.010 | 1.000 | 1 | 2007 | 2007 | |||||
|
2 | 1.000 | 0.040 | 15 | 73939098 | intron variant | C/A;T | snv | 0.700 | 1.000 | 1 | 2007 | 2007 |