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 | 0.120 | X | 154413248 | missense variant | C/A;T | snv | 0.010 | 1.000 | 1 | 2017 | 2017 | |||||
|
8 | 0.851 | 0.080 | 14 | 23427657 | missense variant | C/A;G;T | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2010 | 2010 | ||||
|
7 | 0.851 | 0.080 | 14 | 23425814 | missense variant | G/A;C | snv | 1.2E-05 | 0.010 | 1.000 | 1 | 2010 | 2010 | ||||
|
3 | 0.925 | 0.080 | 1 | 237270518 | missense variant | T/C | snv | 4.7E-06 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
100 | 0.532 | 0.760 | 17 | 63490960 | missense variant | T/C | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2007 | 2007 | ||||
|
2 | 1.000 | 0.040 | 2 | 178789994 | missense variant | T/C | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
1 | 1 | 237496705 | missense variant | G/C | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||||
|
2 | 1.000 | 0.040 | 2 | 219420613 | missense variant | C/T | snv | 7.0E-06 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
2 | 1.000 | 0.040 | 10 | 20868744 | missense variant | C/T | snv | 2.1E-03 | 2.1E-03 | 0.010 | 1.000 | 1 | 2010 | 2010 | |||
|
3 | 1.000 | 0.040 | 1 | 156135968 | missense variant | G/A | snv | 5.6E-05 | 6.3E-05 | 0.010 | 1.000 | 1 | 2012 | 2012 | |||
|
3 | 1.000 | 0.040 | 6 | 43178806 | missense variant | G/A | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
2 | 1.000 | 0.080 | 1 | 236739384 | missense variant | T/G | snv | 8.0E-06 | 7.0E-06 | 0.010 | 1.000 | 1 | 2019 | 2019 | |||
|
1 | 9 | 117678 | missense variant | A/G | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2007 | 2007 | ||||||
|
3 | 0.925 | 0.080 | 14 | 23415096 | missense variant | G/A;C;T | snv | 1.6E-05; 1.6E-05; 4.0E-06 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
3 | 0.925 | 0.040 | 10 | 20828531 | missense variant | G/A;T | snv | 7.2E-05; 2.7E-04 | 0.010 | 1.000 | 1 | 2010 | 2010 | ||||
|
7 | 0.827 | 0.080 | 12 | 32878461 | missense variant | G/A | snv | 2.3E-03 | 2.5E-03 | 0.010 | 1.000 | 1 | 2016 | 2016 | |||
|
107 | 0.515 | 0.840 | 19 | 41353016 | missense variant | G/A;C | snv | 0.55; 2.4E-04 | 0.010 | 1.000 | 1 | 2001 | 2001 | ||||
|
169 | 0.472 | 0.920 | 6 | 31575254 | upstream gene variant | G/A | snv | 0.12 | 0.14 | 0.010 | 1.000 | 1 | 2018 | 2018 | |||
|
34 | 0.683 | 0.440 | 10 | 114045297 | missense variant | G/C | snv | 0.74 | 0.69 | 0.010 | 1.000 | 1 | 2002 | 2002 | |||
|
16 | 0.742 | 0.280 | 3 | 38603929 | missense variant | T/C | snv | 0.22 | 0.25 | 0.010 | 1.000 | 1 | 2018 | 2018 | |||
|
2 | 1.000 | 0.120 | 7 | 150949031 | missense variant | C/G;T | snv | 0.010 | 1.000 | 1 | 2018 | 2018 | |||||
|
3 | 0.925 | 0.120 | 3 | 38609950 | missense variant | C/T | snv | 8.0E-06 | 2.8E-05 | 0.010 | 1.000 | 1 | 2018 | 2018 | |||
|
4 | 0.882 | 0.120 | 3 | 38597737 | stop gained | C/A;T | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2010 | 2010 | ||||
|
6 | 0.851 | 0.040 | 15 | 63042874 | missense variant | G/A;T | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
4 | 0.882 | 0.040 | 15 | 63060930 | missense variant | T/G | snv | 0.010 | 1.000 | 1 | 2005 | 2005 |