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 | 0.120 | 17 | 50187885 | frameshift variant | A/- | del | 0.010 | 1.000 | 1 | 2006 | 2006 | |||||
|
1 | 1.000 | 0.120 | 17 | 50193003 | frameshift variant | A/- | del | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 17 | 50190360 | frameshift variant | A/- | del | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.120 | 17 | 50189521 | frameshift variant | A/- | del | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 7 | 94427004 | splice acceptor variant | A/- | delins | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.120 | 17 | 50198170 | frameshift variant | A/- | del | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 7 | 94423024 | missense variant | A/G | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 1996 | 1996 | ||||
|
2 | 0.925 | 0.200 | 9 | 134835169 | missense variant | A/G | snv | 1.6E-04 | 3.5E-05 | 0.010 | 1.000 | 1 | 2019 | 2019 | |||
|
6 | 0.851 | 0.160 | 11 | 46312636 | inframe deletion | AAG/- | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 17 | 50185558 | frameshift variant | C/- | del | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 7 | 94427639 | frameshift variant | C/- | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 1 | 42747303 | missense variant | C/A | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
1 | 1.000 | 0.120 | 3 | 146072579 | missense variant | C/A | snv | 7.0E-06 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
1 | 1.000 | 0.120 | 17 | 50187121 | missense variant | C/A | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 17 | 50195958 | missense variant | C/A | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 17 | 50190381 | splice acceptor variant | C/A;G | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 7 | 94410478 | missense variant | C/A;G | snv | 5.1E-05 | 0.700 | 0 | |||||||
|
2 | 0.925 | 0.120 | 17 | 50195469 | missense variant | C/A;G;T | snv | 0.010 | 1.000 | 1 | 2002 | 2002 | |||||
|
5 | 0.827 | 0.160 | 17 | 50194032 | missense variant | C/A;G;T | snv | 0.710 | 1.000 | 1 | 2001 | 2001 | |||||
|
2 | 0.925 | 0.120 | 17 | 50188776 | missense variant | C/A;G;T | snv | 0.010 | 1.000 | 1 | 1992 | 1992 | |||||
|
2 | 0.925 | 0.120 | 17 | 50187041 | missense variant | C/A;T | snv | 0.700 | 1.000 | 2 | 2007 | 2016 | |||||
|
2 | 0.925 | 0.120 | 17 | 50195967 | missense variant | C/A;T | snv | 7.0E-06 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
3 | 0.882 | 0.120 | 17 | 50186386 | stop gained | C/A;T | snv | 0.010 | 1.000 | 1 | 2019 | 2019 | |||||
|
2 | 1.000 | 0.120 | 17 | 50185576 | missense variant | C/A;T | snv | 2.8E-05 | 0.010 | 1.000 | 1 | 2002 | 2002 | ||||
|
1 | 1.000 | 0.120 | 17 | 50194380 | missense variant | C/A;T | snv | 4.0E-06; 2.0E-04 | 0.700 | 0 |