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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
3 | 17 | 7675199 | missense variant | G/A;T | snv | 0.010 | 1.000 | 1 | 1993 | 1993 | |||||||
|
2 | 17 | 7673598 | missense variant | G/C;T | snv | 8.0E-06 | 0.010 | 1.000 | 1 | 1993 | 1993 | ||||||
|
11 | 0.752 | 0.440 | 13 | 32379913 | splice region variant | G/A;C;T | snv | 4.0E-06 | 0.700 | 1.000 | 41 | 1997 | 2017 | ||||
|
53 | 0.597 | 0.480 | 22 | 28725099 | missense variant | A/C;G | snv | 4.1E-03 | 0.700 | 1.000 | 32 | 2001 | 2016 | ||||
|
4 | 0.882 | 0.280 | 13 | 32362595 | stop gained | G/A;C | snv | 8.0E-06 | 0.700 | 1.000 | 31 | 2002 | 2018 | ||||
|
37 | 0.641 | 0.400 | 17 | 7674230 | missense variant | C/A;G;T | snv | 0.700 | 1.000 | 30 | 1990 | 2017 | |||||
|
5 | 0.851 | 0.200 | 13 | 32394803 | missense variant | A/G;T | snv | 4.0E-06; 4.0E-06 | 0.700 | 1.000 | 27 | 2000 | 2016 | ||||
|
13 | 0.763 | 0.320 | 7 | 6005918 | missense variant | C/A;T | snv | 1.6E-04; 8.1E-06 | 0.700 | 1.000 | 26 | 2004 | 2018 | ||||
|
24 | 0.701 | 0.240 | 17 | 48728343 | missense variant | C/T | snv | 1.8E-03 | 1.6E-03 | 0.700 | 1.000 | 26 | 1996 | 2017 | |||
|
8 | 0.827 | 0.280 | 13 | 32346896 | missense variant | G/A;C;T | snv | 4.0E-06 | 0.700 | 1.000 | 26 | 1997 | 2018 | ||||
|
5 | 0.851 | 0.200 | 17 | 43045761 | missense variant | A/C;G | snv | 0.700 | 1.000 | 24 | 1996 | 2017 | |||||
|
10 | 0.807 | 0.240 | 3 | 37048955 | missense variant | G/A;C | snv | 0.700 | 1.000 | 23 | 1996 | 2017 | |||||
|
10 | 0.776 | 0.280 | 17 | 43093570 | frameshift variant | TTTT/-;TT;TTT;TTTTT | delins | 7.0E-06 | 0.700 | 1.000 | 23 | 1995 | 2017 | ||||
|
7 | 0.827 | 0.200 | 17 | 43124028 | frameshift variant | CT/-;CTCT | delins | 0.700 | 1.000 | 23 | 1995 | 2017 | |||||
|
32 | 0.672 | 0.560 | 3 | 69964940 | missense variant | G/A | snv | 1.4E-03 | 1.6E-03 | 0.700 | 1.000 | 22 | 1987 | 2016 | |||
|
10 | 0.763 | 0.320 | 13 | 32363369 | missense variant | G/A;C | snv | 7.0E-06 | 0.700 | 1.000 | 22 | 2001 | 2018 | ||||
|
23 | 0.683 | 0.400 | 10 | 87933148 | missense variant | G/A;C;T | snv | 0.700 | 1.000 | 21 | 1998 | 2017 | |||||
|
12 | 0.763 | 0.320 | 11 | 108329202 | missense variant | T/G | snv | 4.0E-05 | 6.3E-05 | 0.700 | 1.000 | 21 | 1996 | 2016 | |||
|
9 | 0.776 | 0.280 | 3 | 10149921 | missense variant | C/T | snv | 2.1E-04 | 1.0E-04 | 0.700 | 1.000 | 21 | 1996 | 2016 | |||
|
33 | 0.667 | 0.360 | 22 | 28695869 | frameshift variant | G/- | del | 2.0E-03 | 1.8E-03 | 0.700 | 1.000 | 21 | 1999 | 2017 | |||
|
5 | 0.882 | 0.200 | 2 | 47429830 | stop gained | C/T | snv | 0.700 | 1.000 | 21 | 2001 | 2016 | |||||
|
4 | 0.882 | 0.200 | 17 | 43063909 | missense variant | C/G;T | snv | 4.8E-05 | 0.700 | 1.000 | 21 | 2000 | 2016 | ||||
|
3 | 0.925 | 0.200 | 17 | 43093975 | frameshift variant | T/- | delins | 0.700 | 1.000 | 21 | 1996 | 2016 | |||||
|
6 | 0.827 | 0.280 | 13 | 32333284 | frameshift variant | A/-;AA | delins | 0.700 | 1.000 | 21 | 1996 | 2017 | |||||
|
3 | 0.925 | 0.080 | 17 | 17216395 | frameshift variant | G/-;GG | delins | 0.700 | 1.000 | 20 | 2002 | 2019 |