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 | 0.882 | 0.240 | 17 | 7674927 | missense variant | G/A;C | snv | 2.8E-05 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
1 | 1.000 | 0.120 | 17 | 7676224 | missense variant | C/G;T | snv | 4.0E-06; 8.0E-06 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
3 | 1.000 | 0.120 | 17 | 7670709 | missense variant | C/A;G;T | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
2 | 1.000 | 0.120 | 17 | 7670643 | missense variant | C/G;T | snv | 0.010 | 1.000 | 1 | 2018 | 2018 | |||||
|
37 | 0.662 | 0.360 | 17 | 7668434 | 3 prime UTR variant | T/G | snv | 8.3E-03 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
6 | 0.851 | 0.160 | 17 | 7673752 | missense variant | G/A;C | snv | 1.2E-05 | 4.2E-05 | 0.020 | 1.000 | 2 | 2009 | 2018 | |||
|
214 | 0.439 | 0.800 | 17 | 7676154 | frameshift variant | -/C | ins | 0.030 | 1.000 | 3 | 2010 | 2016 | |||||
|
213 | 0.439 | 0.800 | 17 | 7676153 | missense variant | GG/AC | mnv | 0.030 | 1.000 | 3 | 2010 | 2016 | |||||
|
242 | 0.426 | 0.800 | 17 | 7676154 | missense variant | G/C;T | snv | 0.67 | 0.040 | 1.000 | 4 | 2010 | 2016 | ||||
|
2 | 0.925 | 0.120 | 17 | 7674208 | missense variant | A/G | snv | 0.700 | 1.000 | 18 | 1990 | 2017 | |||||
|
15 | 0.724 | 0.400 | 17 | 7674238 | missense variant | C/A;G;T | snv | 0.700 | 1.000 | 18 | 1989 | 2017 | |||||
|
24 | 0.683 | 0.480 | 17 | 7673806 | missense variant | C/A;G;T | snv | 4.0E-06 | 0.700 | 1.000 | 18 | 1990 | 2017 | ||||
|
3 | 0.925 | 0.120 | 17 | 7675214 | start lost | A/G | snv | 0.700 | 1.000 | 18 | 1990 | 2017 | |||||
|
2 | 1.000 | 0.120 | 17 | 7673820 | missense variant | C/G;T | snv | 1.2E-05 | 0.700 | 1.000 | 18 | 1990 | 2017 | ||||
|
16 | 0.724 | 0.360 | 17 | 7673763 | missense variant | T/A;C;G | snv | 0.700 | 1.000 | 11 | 1990 | 2014 | |||||
|
4 | 0.925 | 0.200 | 17 | 7676040 | missense variant | C/A;G;T | snv | 4.8E-05 | 0.700 | 1.000 | 11 | 1997 | 2014 | ||||
|
4 | 0.882 | 0.160 | 17 | 7673554 | missense variant | C/A;T | snv | 4.0E-06 | 7.0E-06 | 0.700 | 1.000 | 11 | 1990 | 2014 | |||
|
2 | 1.000 | 0.120 | 17 | 7673773 | missense variant | G/A;C;T | snv | 7.2E-05; 4.0E-06 | 0.700 | 1.000 | 11 | 1990 | 2014 | ||||
|
3 | 0.882 | 0.200 | 17 | 7673603 | missense variant | G/A | snv | 0.700 | 1.000 | 11 | 1990 | 2014 | |||||
|
22 | 0.701 | 0.480 | 17 | 7673788 | missense variant | G/A;C;T | snv | 0.700 | 1.000 | 11 | 1990 | 2014 | |||||
|
2 | 1.000 | 0.120 | 17 | 7674193 | missense variant | A/C;G;T | snv | 0.700 | 1.000 | 11 | 1990 | 2014 | |||||
|
21 | 0.695 | 0.480 | 17 | 7674944 | missense variant | C/A;G;T | snv | 4.0E-06 | 0.700 | 1.000 | 11 | 1990 | 2014 | ||||
|
1 | 1.000 | 0.120 | 17 | 7676124 | missense variant | G/A;C | snv | 2.0E-05 | 7.0E-06 | 0.700 | 1.000 | 11 | 1990 | 2014 | |||
|
2 | 1.000 | 0.120 | 17 | 7675994 | splice region variant | C/A;G;T | snv | 0.700 | 1.000 | 11 | 1992 | 2016 | |||||
|
15 | 0.742 | 0.320 | 17 | 7674252 | missense variant | C/A;G;T | snv | 4.0E-06 | 0.700 | 1.000 | 11 | 1990 | 2014 |