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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
249 | 0.442 | 0.920 | 22 | 19963748 | missense variant | G/A | snv | 0.46 | 0.44 | 0.010 | 1.000 | 1 | 2012 | 2012 | |||
|
95 | 0.559 | 0.600 | 6 | 154039662 | missense variant | A/G | snv | 0.19 | 0.12 | 0.010 | 1.000 | 1 | 2009 | 2009 | |||
|
57 | 0.602 | 0.520 | 3 | 114171968 | missense variant | C/T | snv | 0.63 | 0.54 | 0.010 | 1.000 | 1 | 2009 | 2009 | |||
|
16 | 0.763 | 0.320 | 2 | 166242648 | missense variant | A/G | snv | 0.88 | 0.88 | 0.010 | 1.000 | 1 | 2012 | 2012 | |||
|
4 | 0.882 | 0.120 | 14 | 54893421 | intron variant | T/A;C | snv | 0.25 | 0.010 | 1.000 | 1 | 2009 | 2009 | ||||
|
6 | 0.882 | 0.200 | 14 | 54912273 | intergenic variant | C/T | snv | 0.31 | 0.010 | 1.000 | 1 | 2009 | 2009 | ||||
|
3 | 1.000 | 0.040 | 14 | 54839739 | downstream gene variant | G/C | snv | 0.26 | 0.010 | 1.000 | 1 | 2009 | 2009 | ||||
|
1 | 1.000 | 0.040 | 13 | 46890902 | intron variant | G/C;T | snv | 0.010 | 1.000 | 1 | 2011 | 2011 | |||||
|
2 | 1.000 | 0.040 | 5 | 10169711 | downstream gene variant | T/C | snv | 0.34 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
1 | 1.000 | 0.040 | 6 | 58143645 | intron variant | A/G;T | snv | 0.010 | 1.000 | 1 | 2009 | 2009 | |||||
|
2 | 1.000 | 0.040 | 6 | 154086832 | 5 prime UTR variant | C/T | snv | 9.8E-02 | 0.010 | 1.000 | 1 | 2009 | 2009 | ||||
|
1 | 1.000 | 0.040 | 9 | 289061 | intron variant | A/G | snv | 7.1E-02 | 0.010 | < 0.001 | 1 | 2012 | 2012 |