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 | 0.925 | 0.160 | 3 | 10142109 | missense variant | T/A;C | snv | 0.800 | 1.000 | 43 | 1993 | 2017 | |||||
|
2 | 1.000 | 0.120 | 3 | 10142103 | missense variant | C/G;T | snv | 0.800 | 1.000 | 40 | 1993 | 2017 | |||||
|
4 | 0.882 | 0.200 | 3 | 10149790 | missense variant | A/G | snv | 0.800 | 1.000 | 37 | 1993 | 2017 | |||||
|
3 | 0.925 | 0.160 | 3 | 10142104 | missense variant | C/G;T | snv | 0.810 | 1.000 | 33 | 1994 | 2017 | |||||
|
1 | 1.000 | 0.120 | 3 | 10142125 | missense variant | G/A;T | snv | 0.800 | 1.000 | 32 | 1993 | 2017 | |||||
|
3 | 0.882 | 0.200 | 3 | 10146528 | missense variant | T/C | snv | 0.800 | 1.000 | 32 | 1993 | 2017 | |||||
|
3 | 0.882 | 0.200 | 3 | 10149814 | missense variant | A/G | snv | 0.800 | 1.000 | 32 | 1993 | 2017 | |||||
|
2 | 1.000 | 0.120 | 3 | 10142179 | missense variant | G/A;T | snv | 0.800 | 1.000 | 32 | 1993 | 2017 | |||||
|
8 | 0.776 | 0.320 | 3 | 10142181 | missense variant | T/A;C | snv | 0.810 | 1.000 | 31 | 1993 | 2017 | |||||
|
2 | 0.925 | 0.160 | 3 | 10142187 | missense variant | G/A;C | snv | 0.800 | 1.000 | 31 | 1993 | 2017 | |||||
|
3 | 0.925 | 0.160 | 3 | 10146561 | missense variant | G/C;T | snv | 0.800 | 1.000 | 29 | 1993 | 2017 | |||||
|
1 | 1.000 | 0.120 | 3 | 10149807 | missense variant | T/C | snv | 0.800 | 1.000 | 29 | 1993 | 2017 | |||||
|
3 | 0.925 | 0.240 | 3 | 10149796 | missense variant | T/A;C | snv | 0.800 | 1.000 | 28 | 1993 | 2017 | |||||
|
2 | 1.000 | 0.120 | 3 | 10146618 | missense variant | G/A;C;T | snv | 0.810 | 1.000 | 27 | 1993 | 2017 | |||||
|
2 | 1.000 | 0.120 | 3 | 10149819 | missense variant | G/T | snv | 0.800 | 1.000 | 24 | 1993 | 2017 | |||||
|
1 | 1.000 | 0.120 | 3 | 10142160 | missense variant | A/C | snv | 0.800 | 1.000 | 24 | 1993 | 2017 | |||||
|
2 | 1.000 | 0.120 | 3 | 10142167 | missense variant | G/A;C | snv | 0.800 | 1.000 | 24 | 1993 | 2017 | |||||
|
1 | 1.000 | 0.120 | 3 | 10149793 | missense variant | C/T | snv | 0.800 | 1.000 | 24 | 1993 | 2017 | |||||
|
3 | 0.925 | 0.160 | 3 | 10142080 | missense variant | A/C;G;T | snv | 0.810 | 1.000 | 21 | 1996 | 2017 | |||||
|
2 | 0.925 | 0.160 | 3 | 10146535 | missense variant | A/G | snv | 0.800 | 1.000 | 21 | 1994 | 2017 | |||||
|
6 | 0.807 | 0.240 | 3 | 10146566 | missense variant | C/A | snv | 0.720 | 1.000 | 19 | 1993 | 2011 | |||||
|
7 | 0.807 | 0.200 | 3 | 10149805 | missense variant | G/A | snv | 0.850 | 1.000 | 19 | 1995 | 2017 | |||||
|
4 | 0.882 | 0.280 | 3 | 10149804 | stop gained | C/G;T | snv | 0.800 | 1.000 | 18 | 1994 | 2014 | |||||
|
2 | 0.925 | 0.160 | 3 | 10142092 | missense variant | G/C;T | snv | 0.800 | 1.000 | 18 | 2000 | 2017 | |||||
|
1 | 1.000 | 0.120 | 3 | 10146555 | missense variant | C/T | snv | 0.700 | 1.000 | 17 | 1993 | 2006 |