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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
21 | 0.716 | 0.240 | 10 | 43114501 | missense variant | G/A;C;T | snv | 4.0E-06; 4.0E-06 | 0.900 | 0.974 | 39 | 1993 | 2018 | ||||
|
24 | 0.689 | 0.240 | 10 | 43114500 | missense variant | T/A;C;G | snv | 1.2E-05 | 0.890 | 1.000 | 19 | 1994 | 2017 | ||||
|
17 | 0.724 | 0.280 | 10 | 43113648 | missense variant | T/A;C;G | snv | 4.0E-06; 4.0E-06 | 0.840 | 1.000 | 26 | 1993 | 2017 | ||||
|
15 | 0.724 | 0.120 | 10 | 43113622 | missense variant | G/A;C;T | snv | 4.0E-06 | 0.830 | 1.000 | 26 | 1994 | 2017 | ||||
|
10 | 0.776 | 0.200 | 10 | 43113654 | missense variant | T/A;C;G | snv | 0.830 | 1.000 | 12 | 1994 | 2017 | |||||
|
16 | 0.732 | 0.160 | 10 | 43113649 | missense variant | G/A;C;T | snv | 0.820 | 1.000 | 30 | 1993 | 2017 | |||||
|
8 | 0.776 | 0.160 | 10 | 43113655 | missense variant | G/A;C;T | snv | 0.810 | 1.000 | 19 | 1994 | 2017 | |||||
|
8 | 0.776 | 0.160 | 10 | 43113621 | missense variant | T/A;C;G | snv | 0.810 | 1.000 | 15 | 1996 | 2017 | |||||
|
23 | 0.672 | 0.280 | 10 | 43118460 | missense variant | A/G;T | snv | 4.0E-06; 2.1E-03 | 0.810 | 0.929 | 14 | 1993 | 2013 | ||||
|
12 | 0.752 | 0.160 | 10 | 43114502 | missense variant | C/G | snv | 4.0E-06 | 0.800 | 1.000 | 27 | 1993 | 2017 | ||||
|
3 | 0.882 | 0.120 | 10 | 43113629 | missense variant | C/G;T | snv | 0.800 | 1.000 | 21 | 1993 | 2017 | |||||
|
7 | 0.807 | 0.160 | 10 | 43118458 | missense variant | G/C;T | snv | 4.0E-06; 2.0E-05 | 0.800 | 1.000 | 12 | 1996 | 2017 | ||||
|
1 | 1.000 | 0.120 | 10 | 43114519 | missense variant | C/G | snv | 0.800 | 1.000 | 9 | 1996 | 2017 | |||||
|
29 | 0.662 | 0.360 | 10 | 43119548 | missense variant | G/A;C;T | snv | 1.2E-04; 4.3E-06 | 0.740 | 1.000 | 17 | 1996 | 2017 | ||||
|
14 | 0.716 | 0.240 | 10 | 43120144 | missense variant | T/G | snv | 1.2E-05 | 7.0E-06 | 0.720 | 1.000 | 12 | 1997 | 2015 | |||
|
33 | 0.662 | 0.280 | 10 | 43121968 | missense variant | T/C | snv | 4.0E-06 | 0.720 | 1.000 | 7 | 1995 | 2011 | ||||
|
9 | 0.776 | 0.120 | 10 | 43114491 | missense variant | G/A;T | snv | 4.0E-05; 4.0E-06 | 0.710 | 1.000 | 8 | 1995 | 2017 | ||||
|
7 | 0.807 | 0.120 | 10 | 43114598 | missense variant | G/C;T | snv | 2.4E-05 | 0.710 | 1.000 | 7 | 2005 | 2018 | ||||
|
5 | 0.827 | 0.120 | 10 | 43114489 | missense variant | G/A;C;T | snv | 0.710 | 1.000 | 1 | 2007 | 2007 | |||||
|
5 | 0.851 | 0.120 | 10 | 43114596 | missense variant | A/C;G | snv | 8.0E-06 | 0.700 | 1.000 | 5 | 2005 | 2016 | ||||
|
12 | 0.742 | 0.160 | 10 | 43118392 | missense variant | G/A;C;T | snv | 8.0E-06 | 0.700 | 1.000 | 5 | 1997 | 2011 | ||||
|
1 | 1.000 | 0.120 | 10 | 43111455 | inframe deletion | GAGGGG/- | delins | 0.700 | 1.000 | 2 | 2016 | 2017 | |||||
|
1 | 1.000 | 0.120 | 10 | 43113653 | missense variant | CT/TC | mnv | 0.700 | 1.000 | 2 | 1996 | 1998 | |||||
|
2 | 0.925 | 0.120 | 10 | 43114491 | protein altering variant | -/ACGAGCTGTGCC | delins | 0.700 | 1.000 | 2 | 1997 | 2000 | |||||
|
1 | 1.000 | 0.120 | 10 | 43114498 | inframe insertion | -/TGCCGCACG | delins | 0.700 | 1.000 | 2 | 1998 | 2000 |