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 | 0.080 | 7 | 44145602 | stop gained | G/A;T | snv | 4.3E-06 | 0.810 | 1.000 | 21 | 1992 | 2014 | ||||
|
2 | 0.925 | 0.080 | 7 | 44149977 | missense variant | G/A;T | snv | 8.0E-06 | 0.800 | 1.000 | 31 | 1992 | 2014 | ||||
|
5 | 0.827 | 0.080 | 7 | 44149763 | missense variant | C/T | snv | 8.0E-06 | 1.4E-05 | 0.800 | 1.000 | 22 | 1992 | 2014 | |||
|
1 | 1.000 | 0.080 | 7 | 44145620 | missense variant | C/T | snv | 0.800 | 1.000 | 22 | 1992 | 2018 | |||||
|
1 | 1.000 | 0.080 | 7 | 44147678 | stop gained | C/A;G;T | snv | 4.0E-06; 1.1E-04 | 0.800 | 1.000 | 20 | 1992 | 2014 | ||||
|
3 | 0.882 | 0.080 | 7 | 44147732 | missense variant | C/G;T | snv | 4.0E-06 | 0.800 | 1.000 | 20 | 1992 | 2014 | ||||
|
3 | 0.882 | 0.120 | 7 | 44146587 | missense variant | C/G | snv | 0.800 | 1.000 | 20 | 1992 | 2014 | |||||
|
1 | 1.000 | 0.080 | 7 | 44151048 | missense variant | A/G | snv | 0.800 | 1.000 | 20 | 1992 | 2014 | |||||
|
1 | 1.000 | 0.080 | 7 | 44145618 | missense variant | C/G;T | snv | 0.800 | 1.000 | 20 | 1992 | 2014 | |||||
|
1 | 1.000 | 0.080 | 7 | 44145510 | missense variant | T/C | snv | 0.800 | 1.000 | 20 | 1992 | 2014 | |||||
|
3 | 0.882 | 0.080 | 7 | 44152420 | missense variant | C/T | snv | 4.0E-06 | 0.800 | 1.000 | 20 | 1992 | 2014 | ||||
|
1 | 1.000 | 0.080 | 7 | 44150990 | missense variant | A/G;T | snv | 0.800 | 1.000 | 20 | 1992 | 2014 | |||||
|
5 | 0.851 | 0.080 | 7 | 44150004 | missense variant | C/T | snv | 0.800 | 1.000 | 20 | 1992 | 2014 | |||||
|
2 | 0.925 | 0.080 | 7 | 44153403 | missense variant | G/A | snv | 1.2E-05 | 2.8E-05 | 0.800 | 1.000 | 20 | 1992 | 2014 | |||
|
4 | 0.851 | 0.080 | 7 | 44147747 | missense variant | C/G;T | snv | 4.0E-06 | 0.800 | 1.000 | 20 | 1992 | 2014 | ||||
|
2 | 0.925 | 0.080 | 7 | 44149810 | missense variant | A/G;T | snv | 4.0E-06 | 0.800 | 1.000 | 20 | 1992 | 2014 | ||||
|
2 | 0.925 | 0.080 | 7 | 44147830 | missense variant | G/A | snv | 4.0E-06 | 0.800 | 1.000 | 20 | 1992 | 2014 | ||||
|
2 | 0.925 | 0.080 | 7 | 44149778 | missense variant | C/T | snv | 0.800 | 0 | ||||||||
|
2 | 0.925 | 0.080 | 7 | 44153334 | missense variant | G/A | snv | 4.0E-06 | 0.710 | 1.000 | 1 | 2013 | 2013 | ||||
|
1 | 1.000 | 0.080 | 7 | 44145576 | missense variant | G/A | snv | 0.700 | 1.000 | 20 | 1992 | 2014 | |||||
|
4 | 0.851 | 0.080 | 7 | 44149822 | missense variant | G/A | snv | 4.0E-06 | 0.700 | 1.000 | 20 | 1992 | 2014 | ||||
|
1 | 1.000 | 0.080 | 7 | 44147744 | missense variant | A/G | snv | 0.700 | 1.000 | 20 | 1992 | 2014 | |||||
|
1 | 1.000 | 0.080 | 7 | 44150961 | missense variant | C/T | snv | 0.700 | 1.000 | 20 | 1992 | 2014 | |||||
|
2 | 0.925 | 0.080 | 7 | 44152396 | missense variant | C/T | snv | 0.700 | 1.000 | 20 | 1992 | 2014 | |||||
|
1 | 1.000 | 0.080 | 7 | 44153379 | missense variant | C/T | snv | 0.700 | 1.000 | 20 | 1992 | 2014 |