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 | 3 | 10142103 | missense variant | C/G;T | snv | 0.800 | 1.000 | 40 | 1993 | 2017 | |||||
|
1 | 1.000 | 0.120 | 3 | 10142125 | missense variant | G/A;T | 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 | |||||
|
1 | 1.000 | 0.120 | 3 | 10149807 | missense variant | T/C | snv | 0.800 | 1.000 | 29 | 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 | 10149815 | missense variant | G/C;T | snv | 8.0E-06 | 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 | 10149879 | stop gained | G/A;T | snv | 1.6E-05 | 0.700 | 1.000 | 24 | 1993 | 2017 | ||||
|
1 | 1.000 | 0.120 | 3 | 10142001 | stop gained | G/A;T | snv | 6.3E-05; 1.0E-05 | 0.700 | 1.000 | 24 | 1993 | 2017 | ||||
|
1 | 1.000 | 0.120 | 3 | 10146608 | missense variant | G/A;C | snv | 4.0E-06; 4.0E-06 | 0.700 | 1.000 | 24 | 1993 | 2017 | ||||
|
1 | 1.000 | 0.120 | 3 | 10149793 | missense variant | C/T | snv | 0.800 | 1.000 | 24 | 1993 | 2017 | |||||
|
1 | 1.000 | 0.120 | 3 | 10146555 | missense variant | C/T | snv | 0.700 | 1.000 | 17 | 1993 | 2006 | |||||
|
2 | 1.000 | 0.120 | 3 | 10142055 | stop gained | G/A;T | snv | 4.4E-06 | 0.810 | 1.000 | 11 | 1998 | 2017 | ||||
|
1 | 1.000 | 0.120 | 3 | 10146524 | stop gained | G/A;T | snv | 4.0E-06 | 0.800 | 1.000 | 9 | 1995 | 2017 | ||||
|
1 | 1.000 | 0.120 | 3 | 10149786 | splice acceptor variant | G/A;C;T | snv | 0.700 | 1.000 | 8 | 1994 | 2007 | |||||
|
1 | 1.000 | 0.120 | 3 | 10146518 | missense variant | C/A;G;T | snv | 0.700 | 1.000 | 8 | 1995 | 2015 | |||||
|
1 | 1.000 | 0.120 | 3 | 10149861 | missense variant | A/G | snv | 8.0E-06 | 1.4E-05 | 0.700 | 1.000 | 7 | 2004 | 2017 | |||
|
1 | 1.000 | 0.120 | 3 | 10142068 | missense variant | T/A;C;G | snv | 0.700 | 1.000 | 7 | 2004 | 2017 | |||||
|
1 | 1.000 | 0.120 | 3 | 10142074 | missense variant | T/A;C;G | snv | 0.700 | 1.000 | 7 | 2004 | 2017 | |||||
|
2 | 1.000 | 0.120 | 3 | 10142180 | missense variant | C/G;T | snv | 4.5E-06 | 0.800 | 1.000 | 7 | 2004 | 2017 | ||||
|
1 | 1.000 | 0.120 | 3 | 10146636 | missense variant | G/A | snv | 0.700 | 1.000 | 7 | 2004 | 2017 | |||||
|
1 | 1.000 | 0.120 | 3 | 10149848 | stop gained | C/G | snv | 0.700 | 1.000 | 6 | 1995 | 2008 | |||||
|
1 | 1.000 | 0.120 | 3 | 10146568 | missense variant | A/C;G | snv | 4.0E-06 | 0.700 | 1.000 | 5 | 1999 | 2009 |