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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
15 | 0.724 | 0.200 | 5 | 136046407 | missense variant | G/A;T | snv | 4.0E-05 | 0.900 | 1.000 | 29 | 1998 | 2019 | ||||
|
15 | 0.708 | 0.200 | 5 | 136046406 | missense variant | C/A;T | snv | 4.0E-06; 4.0E-06 | 0.040 | 1.000 | 4 | 2000 | 2010 | ||||
|
9 | 0.763 | 0.160 | 5 | 136056781 | missense variant | G/A | snv | 0.020 | 1.000 | 2 | 2000 | 2012 | |||||
|
4 | 0.851 | 0.160 | 8 | 85480683 | missense variant | G/A | snv | 1.4E-04 | 8.4E-05 | 0.020 | 1.000 | 2 | 2004 | 2009 | |||
|
3 | 0.882 | 0.120 | 3 | 149026904 | missense variant | A/G | snv | 0.010 | 1.000 | 1 | 2019 | 2019 | |||||
|
13 | 0.724 | 0.240 | 5 | 136056780 | missense variant | C/T | snv | 7.0E-06 | 0.010 | 1.000 | 1 | 2000 | 2000 | ||||
|
6 | 0.807 | 0.160 | 5 | 136055770 | missense variant | C/A;G;T | snv | 3.2E-04; 3.2E-05; 3.6E-05 | 0.010 | 1.000 | 1 | 2000 | 2000 | ||||
|
3 | 0.925 | 0.160 | 3 | 23009845 | intergenic variant | C/T | snv | 8.8E-03 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
16 | 0.752 | 0.280 | 1 | 20589208 | missense variant | A/C | snv | 0.28 | 0.25 | 0.010 | 1.000 | 1 | 2012 | 2012 | |||
|
7 | 0.807 | 0.120 | 19 | 12885001 | missense variant | C/T | snv | 0.010 | 1.000 | 1 | 2019 | 2019 | |||||
|
1 | 1.000 | 0.080 | 22 | 28797159 | missense variant | T/C | snv | 4.0E-05 | 9.8E-05 | 0.010 | 1.000 | 1 | 2016 | 2016 | |||
|
3 | 0.882 | 0.160 | 14 | 94382864 | missense variant | C/T | snv | 0.16 | 0.12 | 0.010 | 1.000 | 1 | 2009 | 2009 | |||
|
3 | 0.882 | 0.160 | 1 | 230710465 | missense variant | T/C;G | snv | 4.0E-06; 4.0E-06 | 0.010 | 1.000 | 1 | 2009 | 2009 | ||||
|
1 | 1.000 | 0.080 | 6 | 29729075 | 3 prime UTR variant | C/T | snv | 0.20 | 0.010 | 1.000 | 1 | 2009 | 2009 |