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 | 2 | 47466663 | missense variant | G/T | snv | 0.700 | 1.000 | 4 | 1998 | 2005 | |||||
|
4 | 0.925 | 0.080 | 2 | 47412433 | missense variant | T/C | snv | 0.010 | 1.000 | 1 | 2010 | 2010 | |||||
|
2 | 1.000 | 0.080 | 2 | 47476442 | missense variant | T/C | snv | 0.010 | 1.000 | 1 | 2010 | 2010 | |||||
|
7 | 0.827 | 0.200 | 2 | 47463096 | stop gained | ATGA/-;ATGAATGA | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | 2 | 47416377 | missense variant | G/A | snv | 0.700 | 0 | ||||||||
|
7 | 0.827 | 0.240 | 2 | 47429881 | stop gained | C/T | snv | 0.700 | 0 | ||||||||
|
2 | 1.000 | 0.080 | 2 | 47475121 | missense variant | A/G | snv | 4.0E-06 | 0.700 | 1.000 | 4 | 1998 | 2005 | ||||
|
3 | 0.882 | 0.160 | 2 | 47429920 | stop gained | C/A;G;T | snv | 5.5E-04; 4.0E-06 | 0.700 | 1.000 | 4 | 1998 | 2005 | ||||
|
2 | 0.925 | 0.080 | 2 | 47403350 | synonymous variant | C/T | snv | 4.3E-06 | 1.4E-05 | 0.010 | 1.000 | 1 | 2007 | 2007 | |||
|
1 | 1.000 | 0.080 | 2 | 47478357 | missense variant | A/G | snv | 8.0E-06 | 7.0E-06 | 0.010 | 1.000 | 1 | 2017 | 2017 | |||
|
2 | 1.000 | 0.080 | 2 | 47403309 | missense variant | G/A | snv | 8.8E-06 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.080 | 2 | 47403229 | missense variant | G/A;T | snv | 1.4E-05 | 0.700 | 1.000 | 4 | 1998 | 2005 | ||||
|
15 | 0.742 | 0.280 | 2 | 47475171 | missense variant | G/A;C | snv | 1.6E-05 | 0.040 | 1.000 | 4 | 2004 | 2011 | ||||
|
1 | 1.000 | 0.080 | 2 | 47410334 | missense variant | G/A | snv | 1.6E-05 | 3.5E-05 | 0.700 | 1.000 | 4 | 1998 | 2005 | |||
|
2 | 0.925 | 0.160 | 2 | 47410340 | stop gained | G/C;T | snv | 1.6E-05 | 0.010 | 1.000 | 1 | 2004 | 2004 | ||||
|
2 | 0.925 | 0.160 | 2 | 47410232 | missense variant | A/G | snv | 4.7E-04 | 1.3E-04 | 0.700 | 1.000 | 4 | 1998 | 2005 | |||
|
3 | 0.882 | 0.160 | 2 | 47429833 | missense variant | C/G;T | snv | 1.5E-03 | 0.700 | 0 | |||||||
|
10 | 0.790 | 0.240 | 2 | 47410107 | missense variant | A/C;G;T | snv | 5.8E-03 | 0.010 | 1.000 | 1 | 2012 | 2012 |