| 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. | ||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
12 | 0.742 | 0.360 | 9 | 34649445 | missense variant | A/G | snv | 9.2E-02 | 7.4E-02 | 0.090 | 1.000 | 9 | 1994 | 2012 | |||
|
3 | 0.882 | 0.120 | 9 | 34647858 | missense variant | C/G;T | snv | 4.0E-06; 2.5E-04 | 0.070 | 1.000 | 7 | 1996 | 2009 | ||||
|
5 | 0.827 | 0.280 | 9 | 34648170 | missense variant | A/G | snv | 1.4E-03 | 1.9E-03 | 0.070 | 0.857 | 7 | 1995 | 2018 | |||
|
4 | 0.851 | 0.120 | 1 | 23798188 | missense variant | C/T | snv | 8.0E-06 | 1.4E-05 | 0.040 | 1.000 | 4 | 2000 | 2013 | |||
|
3 | 0.882 | 0.200 | 9 | 34649032 | missense variant | G/T | snv | 1.4E-04 | 1.7E-04 | 0.020 | 1.000 | 2 | 1997 | 1999 | |||
|
2 | 0.925 | 0.120 | 9 | 34649058 | missense variant | T/A | snv | 0.010 | 1.000 | 1 | 1999 | 1999 | |||||
|
2 | 0.925 | 0.120 | 9 | 34649463 | missense variant | G/A | snv | 1.2E-05 | 1.4E-05 | 0.010 | 1.000 | 1 | 1999 | 1999 | |||
|
4 | 0.882 | 0.160 | 9 | 34649523 | stop gained | G/A;T | snv | 0.010 | 1.000 | 1 | 1999 | 1999 | |||||
|
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 | |||||
|
3 | 0.882 | 0.120 | 1 | 23796722 | missense variant | T/C | snv | 1.4E-03 | 5.8E-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 | ||||
|
2 | 0.925 | 0.120 | 6 | 32977541 | missense variant | G/A | snv | 0.010 | 1.000 | 1 | 1994 | 1994 |