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 | 0.120 | 6 | 32977541 | missense variant | G/A | snv | 0.010 | 1.000 | 1 | 1994 | 1994 | |||||
|
4 | 0.851 | 0.120 | 1 | 23798188 | missense variant | C/T | snv | 8.0E-06 | 1.4E-05 | 0.020 | 1.000 | 2 | 2005 | 2013 | |||
|
3 | 0.882 | 0.120 | 1 | 23796722 | missense variant | T/C | snv | 1.4E-03 | 5.8E-03 | 0.020 | 1.000 | 2 | 2005 | 2005 | |||
|
3 | 0.882 | 0.120 | 1 | 23797718 | missense variant | G/A;T | snv | 7.2E-05; 8.0E-06 | 0.010 | 1.000 | 1 | 2006 | 2006 | ||||
|
3 | 0.882 | 0.120 | 1 | 23796777 | missense variant | G/A | snv | 1.6E-05 | 7.0E-06 | 0.010 | 1.000 | 1 | 2006 | 2006 | |||
|
3 | 0.882 | 0.120 | 1 | 23796234 | missense variant | C/T | snv | 2.0E-05 | 0.010 | 1.000 | 1 | 2006 | 2006 | ||||
|
3 | 0.882 | 0.120 | 1 | 23798199 | missense variant | C/T | snv | 0.010 | 1.000 | 1 | 2005 | 2005 | |||||
|
2 | 0.925 | 0.120 | 1 | 23796183 | missense variant | C/T | snv | 3.5E-04 | 1.2E-03 | 0.010 | 1.000 | 1 | 2005 | 2005 | |||
|
3 | 0.882 | 0.120 | 1 | 23796202 | missense variant | G/A;T | snv | 0.010 | 1.000 | 1 | 2005 | 2005 | |||||
|
3 | 0.882 | 0.120 | 1 | 23795992 | missense variant | C/G;T | snv | 1.2E-05 | 0.010 | 1.000 | 1 | 2005 | 2005 | ||||
|
12 | 0.742 | 0.360 | 9 | 34649445 | missense variant | A/G | snv | 9.2E-02 | 7.4E-02 | 0.890 | 1.000 | 35 | 1991 | 2016 | |||
|
1 | 1.000 | 0.120 | 9 | 34647531 | missense variant | G/A;C | snv | 3.6E-05; 4.0E-06 | 0.800 | 1.000 | 32 | 1991 | 2017 | ||||
|
3 | 0.882 | 0.200 | 9 | 34649032 | missense variant | G/T | snv | 1.4E-04 | 1.7E-04 | 0.840 | 1.000 | 29 | 1991 | 2016 | |||
|
1 | 1.000 | 0.120 | 9 | 34647205 | missense variant | C/T | snv | 1.4E-05 | 0.800 | 1.000 | 27 | 1991 | 2016 | ||||
|
1 | 1.000 | 0.120 | 9 | 34648849 | missense variant | C/T | snv | 1.2E-05 | 0.800 | 1.000 | 27 | 1991 | 2016 | ||||
|
5 | 0.827 | 0.280 | 9 | 34648170 | missense variant | A/G | snv | 1.4E-03 | 1.9E-03 | 0.900 | 0.962 | 26 | 1991 | 2018 | |||
|
1 | 1.000 | 0.120 | 9 | 34648846 | missense variant | C/T | snv | 3.2E-05 | 1.4E-05 | 0.800 | 1.000 | 25 | 1991 | 2019 | |||
|
1 | 1.000 | 0.120 | 9 | 34647956 | missense variant | G/A;T | snv | 0.800 | 1.000 | 24 | 1991 | 2016 | |||||
|
1 | 1.000 | 0.120 | 9 | 34647529 | missense variant | A/G | snv | 4.0E-06 | 0.800 | 1.000 | 23 | 1991 | 2016 | ||||
|
3 | 0.882 | 0.120 | 9 | 34647858 | missense variant | C/G;T | snv | 4.0E-06; 2.5E-04 | 0.850 | 1.000 | 23 | 1992 | 2017 | ||||
|
1 | 1.000 | 0.120 | 9 | 34646771 | missense variant | A/G | snv | 0.810 | 1.000 | 22 | 1991 | 2016 | |||||
|
1 | 1.000 | 0.120 | 9 | 34647695 | stop gained | C/G;T | snv | 1.2E-05 | 0.800 | 1.000 | 22 | 1991 | 2016 | ||||
|
1 | 1.000 | 0.120 | 9 | 34646786 | missense variant | G/A;C;T | snv | 0.800 | 1.000 | 21 | 1991 | 2016 | |||||
|
1 | 1.000 | 0.120 | 9 | 34646731 | missense variant | G/C | snv | 0.700 | 1.000 | 21 | 1991 | 2016 | |||||
|
1 | 1.000 | 0.120 | 9 | 34647101 | missense variant | T/A | snv | 0.800 | 1.000 | 21 | 1991 | 2016 |