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 | 0.080 | 19 | 1220489 | missense variant | A/T | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | 11 | 111766340 | missense variant | C/G;T | snv | 2.0E-04 | 5.2E-04 | 0.700 | 0 | ||||||
|
1 | 1.000 | 0.080 | 3 | 10142164 | missense variant | G/A | snv | 0.700 | 0 | ||||||||
|
7 | 0.851 | 0.120 | 11 | 111764842 | missense variant | C/T | snv | 6.5E-03 | 7.0E-03 | 0.700 | 0 | ||||||
|
5 | 0.851 | 0.320 | 3 | 10142113 | missense variant | T/A;C | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | 11 | 111743419 | missense variant | T/C | snv | 4.0E-06 | 7.0E-06 | 0.700 | 0 | ||||||
|
78 | 0.554 | 0.600 | 17 | 7673802 | missense variant | C/A;G;T | snv | 4.0E-06; 1.6E-05 | 0.030 | 0.667 | 3 | 1993 | 2019 | ||||
|
57 | 0.592 | 0.640 | 17 | 7674220 | missense variant | C/A;G;T | snv | 1.2E-05 | 0.020 | 0.500 | 2 | 1993 | 2019 | ||||
|
5 | 0.882 | 0.080 | 17 | 7674225 | missense variant | C/T | snv | 0.010 | < 0.001 | 1 | 1993 | 1993 | |||||
|
17 | 0.724 | 0.240 | 17 | 7675208 | missense variant | C/A;T | snv | 0.010 | 1.000 | 1 | 1996 | 1996 | |||||
|
88 | 0.533 | 0.720 | 15 | 74720644 | missense variant | T/A;C;G | snv | 0.11 | 5.9E-02 | 0.100 | 0.900 | 20 | 1998 | 2017 | |||
|
147 | 0.476 | 0.800 | 3 | 9757089 | missense variant | C/G | snv | 0.27 | 0.22 | 0.100 | 0.967 | 30 | 1999 | 2019 | |||
|
188 | 0.457 | 0.880 | 11 | 67585218 | missense variant | A/G | snv | 0.34 | 0.36 | 0.100 | 0.667 | 15 | 1999 | 2018 | |||
|
3 | 0.882 | 0.080 | 7 | 100860016 | missense variant | A/G | snv | 4.0E-06 | 7.0E-06 | 0.010 | 1.000 | 1 | 1999 | 1999 | |||
|
4 | 0.882 | 0.080 | 12 | 109908873 | missense variant | G/A | snv | 3.2E-05 | 2.1E-05 | 0.010 | 1.000 | 1 | 1999 | 1999 | |||
|
242 | 0.426 | 0.800 | 17 | 7676154 | missense variant | G/C;T | snv | 0.67 | 0.100 | 0.850 | 20 | 2000 | 2018 | ||||
|
214 | 0.439 | 0.800 | 17 | 7676154 | frameshift variant | -/C | ins | 0.100 | 0.875 | 16 | 2000 | 2018 | |||||
|
213 | 0.439 | 0.800 | 17 | 7676153 | missense variant | GG/AC | mnv | 0.100 | 0.875 | 16 | 2000 | 2018 | |||||
|
614 | 0.330 | 0.920 | 1 | 11796309 | missense variant | A/G | snv | 4.0E-06 | 7.0E-06 | 0.100 | 0.826 | 23 | 2001 | 2019 | |||
|
151 | 0.474 | 0.800 | 19 | 43553422 | missense variant | G/A | snv | 9.5E-02 | 7.0E-02 | 0.100 | 0.818 | 22 | 2001 | 2015 | |||
|
72 | 0.557 | 0.640 | 19 | 45364001 | missense variant | C/A;T | snv | 7.1E-06; 0.29 | 0.100 | 1.000 | 14 | 2001 | 2014 | ||||
|
78 | 0.550 | 0.720 | 19 | 43552260 | missense variant | C/G;T | snv | 8.5E-06; 7.1E-02 | 0.100 | 0.900 | 10 | 2001 | 2019 | ||||
|
306 | 0.405 | 0.880 | 1 | 11794407 | missense variant | T/G | snv | 0.090 | 0.667 | 9 | 2001 | 2018 | |||||
|
6 | 0.807 | 0.120 | 4 | 85994925 | missense variant | C/T | snv | 2.8E-05 | 4.9E-05 | 0.010 | 1.000 | 1 | 2001 | 2001 | |||
|
6 | 0.807 | 0.120 | 1 | 3730017 | missense variant | C/G;T | snv | 8.2E-06; 8.2E-06 | 0.010 | 1.000 | 1 | 2001 | 2001 |