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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
15 | 0.732 | 0.240 | 1 | 171636338 | stop gained | G/A | snv | 1.1E-03 | 8.7E-04 | 0.800 | 1.000 | 11 | 1998 | 2019 | |||
|
15 | 0.716 | 0.360 | 15 | 73929861 | intron variant | T/C | snv | 0.60 | 0.750 | 1.000 | 6 | 2007 | 2019 | ||||
|
7 | 0.807 | 0.040 | 10 | 13109270 | missense variant | G/A | snv | 0.060 | 1.000 | 6 | 2005 | 2019 | |||||
|
6 | 0.807 | 0.120 | 1 | 171636131 | missense variant | A/G | snv | 0.050 | 1.000 | 5 | 2003 | 2019 | |||||
|
70 | 0.587 | 0.600 | 18 | 31592974 | missense variant | G/A;C | snv | 1.0E-04 | 0.020 | 0.500 | 2 | 2012 | 2019 | ||||
|
2 | 0.925 | 0.040 | 6 | 151929945 | intron variant | C/A | snv | 0.59 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
4 | 0.882 | 0.240 | 18 | 31595209 | missense variant | C/A | snv | 0.010 | 1.000 | 1 | 2019 | 2019 | |||||
|
2 | 0.925 | 0.160 | 6 | 121446966 | missense variant | C/T | snv | 0.010 | 1.000 | 1 | 2019 | 2019 | |||||
|
47 | 0.600 | 0.680 | 6 | 31574705 | upstream gene variant | C/T | snv | 8.5E-02 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
169 | 0.472 | 0.920 | 6 | 31575254 | upstream gene variant | G/A | snv | 0.12 | 0.14 | 0.010 | 1.000 | 1 | 2019 | 2019 | |||
|
17 | 0.701 | 0.480 | 6 | 31574699 | upstream gene variant | C/A | snv | 0.14 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
93 | 0.535 | 0.840 | 1 | 11794419 | missense variant | T/G | snv | 0.29 | 0.26 | 0.010 | 1.000 | 1 | 2019 | 2019 | |||
|
174 | 0.472 | 0.880 | 1 | 11796321 | missense variant | G/A | snv | 0.31 | 0.27 | 0.010 | 1.000 | 1 | 2019 | 2019 | |||
|
16 | 0.742 | 0.360 | 18 | 31598580 | missense variant | G/T | snv | 4.0E-06 | 7.0E-06 | 0.010 | 1.000 | 1 | 2019 | 2019 | |||
|
62 | 0.562 | 0.760 | 6 | 31575324 | upstream gene variant | G/A | snv | 4.6E-02 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
157 | 0.485 | 0.840 | 7 | 95308134 | missense variant | T/C | snv | 0.38 | 0.42 | 0.010 | 1.000 | 1 | 2019 | 2019 | |||
|
1 | 1.000 | 0.040 | 11 | 10074140 | intron variant | G/C | snv | 0.28 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
113 | 0.513 | 0.800 | 7 | 95316772 | missense variant | A/C;G;N;T | snv | 0.29 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
242 | 0.426 | 0.800 | 17 | 7676154 | missense variant | G/C;T | snv | 0.67 | 0.050 | 0.600 | 5 | 2005 | 2018 | ||||
|
214 | 0.439 | 0.800 | 17 | 7676154 | frameshift variant | -/C | ins | 0.040 | 0.500 | 4 | 2005 | 2018 | |||||
|
213 | 0.439 | 0.800 | 17 | 7676153 | missense variant | GG/AC | mnv | 0.040 | 0.500 | 4 | 2005 | 2018 | |||||
|
7 | 0.807 | 0.200 | 14 | 60509819 | missense variant | C/A;G | snv | 0.53 | 0.030 | 1.000 | 3 | 2014 | 2018 | ||||
|
4 | 0.851 | 0.040 | 1 | 171636686 | missense variant | C/T | snv | 0.020 | 1.000 | 2 | 2007 | 2018 | |||||
|
1 | 1.000 | 0.040 | 7 | 117963766 | regulatory region variant | G/A;C | snv | 0.700 | 1.000 | 1 | 2018 | 2018 | |||||
|
2 | 1.000 | 0.040 | 7 | 116511284 | downstream gene variant | T/C | snv | 0.28 | 0.700 | 1.000 | 1 | 2018 | 2018 |