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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
27 | 0.683 | 0.360 | 10 | 113588287 | missense variant | G/A | snv | 2.2E-02 | 2.4E-02 | 0.040 | 1.000 | 4 | 2016 | 2017 | |||
|
242 | 0.426 | 0.800 | 17 | 7676154 | missense variant | G/C;T | snv | 0.67 | 0.030 | 0.667 | 3 | 2014 | 2015 | ||||
|
214 | 0.439 | 0.800 | 17 | 7676154 | frameshift variant | -/C | ins | 0.030 | 0.667 | 3 | 2014 | 2015 | |||||
|
33 | 0.662 | 0.280 | 10 | 43121968 | missense variant | T/C | snv | 4.0E-06 | 0.030 | 1.000 | 3 | 2001 | 2018 | ||||
|
213 | 0.439 | 0.800 | 17 | 7676153 | missense variant | GG/AC | mnv | 0.030 | 0.667 | 3 | 2014 | 2015 | |||||
|
70 | 0.559 | 0.760 | 1 | 226367601 | missense variant | A/G | snv | 0.21 | 0.15 | 0.020 | 1.000 | 2 | 2012 | 2018 | |||
|
10 | 0.776 | 0.160 | 11 | 534242 | synonymous variant | A/G | snv | 0.32 | 0.34 | 0.020 | 1.000 | 2 | 2012 | 2013 | |||
|
53 | 0.597 | 0.480 | 22 | 28725099 | missense variant | A/C;G | snv | 4.1E-03 | 0.020 | 1.000 | 2 | 2004 | 2015 | ||||
|
106 | 0.532 | 0.760 | 12 | 6845711 | synonymous variant | C/T | snv | 0.36 | 0.44 | 0.020 | 1.000 | 2 | 2005 | 2018 | |||
|
4 | 0.851 | 0.080 | 9 | 97854419 | inframe insertion | GCCGCCGCCGCCGCCGCCGCCGCC/-;GCC;GCCGCC;GCCGCCGCC;GCCGCCGCCGCC;GCCGCCGCCGCCGCC;GCCGCCGCCGCCGCCGCC;GCCGCCGCCGCCGCCGCCGCC;GCCGCCGCCGCCGCCGCCGCCGCCGCC;GCCGCCGCCGCCGCCGCCGCCGCCGCCGCC;GCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCC;GCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCC;GCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCC | delins | 0.68 | 0.020 | 1.000 | 2 | 2014 | 2014 | ||||
|
29 | 0.662 | 0.360 | 10 | 43119548 | missense variant | G/A;C;T | snv | 1.2E-04; 4.3E-06 | 0.020 | 1.000 | 2 | 2006 | 2016 | ||||
|
104 | 0.519 | 0.680 | 14 | 103699416 | missense variant | G/A | snv | 0.29 | 0.30 | 0.020 | 0.500 | 2 | 2009 | 2015 | |||
|
3 | 0.882 | 0.080 | 11 | 58709815 | missense variant | T/C | snv | 0.010 | 1.000 | 1 | 2019 | 2019 | |||||
|
3 | 0.882 | 0.080 | 7 | 55160171 | missense variant | A/G | snv | 4.0E-06 | 7.0E-06 | 0.010 | 1.000 | 1 | 2018 | 2018 | |||
|
214 | 0.456 | 0.840 | 7 | 87509329 | synonymous variant | A/G;T | snv | 0.50 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
48 | 0.605 | 0.560 | 11 | 534286 | missense variant | C/A;G;T | snv | 0.010 | 1.000 | 1 | 2015 | 2015 | |||||
|
35 | 0.641 | 0.520 | 1 | 114713907 | missense variant | TT/CA;CC | mnv | 0.010 | 1.000 | 1 | 2016 | 2016 | |||||
|
31 | 0.658 | 0.480 | 1 | 114713908 | missense variant | TG/CT | mnv | 0.010 | 1.000 | 1 | 2016 | 2016 | |||||
|
7 | 0.851 | 0.080 | 3 | 52403251 | stop gained | G/A | snv | 0.010 | 1.000 | 1 | 2016 | 2016 | |||||
|
26 | 0.662 | 0.640 | 12 | 47879112 | start lost | A/C;G;T | snv | 0.010 | 1.000 | 1 | 2009 | 2009 | |||||
|
3 | 0.882 | 0.080 | 7 | 47992027 | intron variant | A/C | snv | 0.43 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
14 | 0.732 | 0.320 | 6 | 43523209 | 3 prime UTR variant | T/G | snv | 0.47 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
12 | 0.752 | 0.120 | 11 | 112087953 | missense variant | A/G | snv | 6.6E-03 | 6.7E-03 | 0.010 | 1.000 | 1 | 2017 | 2017 | |||
|
8 | 0.776 | 0.280 | 17 | 6999441 | missense variant | A/G | snv | 0.60 | 0.62 | 0.010 | 1.000 | 1 | 2012 | 2012 | |||
|
34 | 0.645 | 0.280 | 17 | 39723335 | missense variant | A/G;T | snv | 0.20 | 0.010 | 1.000 | 1 | 2009 | 2009 |