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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
614 | 0.330 | 0.920 | 1 | 11796309 | missense variant | A/G | snv | 4.0E-06 | 7.0E-06 | 0.010 | 1.000 | 1 | 2018 | 2018 | |||
|
2 | 1 | 186453389 | intron variant | G/A | snv | 0.33 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||||
|
36 | 0.658 | 0.480 | 9 | 21994285 | missense variant | C/A;T | snv | 0.010 | 1.000 | 1 | 2013 | 2013 | |||||
|
6 | 0.882 | 0.120 | 11 | 74006339 | missense variant | A/G | snv | 1.7E-05 | 6.3E-05 | 0.010 | 1.000 | 1 | 2018 | 2018 | |||
|
5 | 0.882 | 0.160 | 4 | 55455650 | intron variant | C/G | snv | 0.33 | 0.010 | 1.000 | 1 | 2008 | 2008 | ||||
|
3 | 0.925 | 0.080 | 10 | 112375255 | non coding transcript exon variant | C/T | snv | 0.23 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
2 | 1.000 | 0.080 | 2 | 190059437 | intron variant | T/C | snv | 0.36 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
8 | 0.827 | 0.160 | 4 | 55547636 | non coding transcript exon variant | G/A | snv | 0.33 | 0.010 | 1.000 | 1 | 2008 | 2008 | ||||
|
8 | 0.925 | 0.120 | 5 | 96393194 | missense variant | C/G | snv | 0.26 | 0.23 | 0.010 | 1.000 | 1 | 2014 | 2014 | |||
|
272 | 0.436 | 0.760 | 11 | 27658369 | missense variant | C/T | snv | 0.19 | 0.15 | 0.010 | < 0.001 | 1 | 2013 | 2013 | |||
|
24 | 0.695 | 0.320 | 11 | 73978059 | missense variant | G/A | snv | 0.41 | 0.43 | 0.010 | 1.000 | 1 | 2018 | 2018 | |||
|
157 | 0.485 | 0.840 | 7 | 95308134 | missense variant | T/C | snv | 0.38 | 0.42 | 0.010 | 1.000 | 1 | 2014 | 2014 | |||
|
3 | 0.925 | 0.080 | 4 | 55515830 | intron variant | C/G;T | snv | 0.010 | 1.000 | 1 | 2008 | 2008 | |||||
|
237 | 0.448 | 0.760 | 11 | 27658456 | missense variant | C/T | snv | 1.2E-05 | 0.010 | < 0.001 | 1 | 2013 | 2013 | ||||
|
6 | 0.882 | 0.120 | 11 | 74006231 | missense variant | G/A | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
2 | 1.000 | 0.040 | 1 | 153947810 | 3 prime UTR variant | G/A | snv | 0.27 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
113 | 0.513 | 0.800 | 7 | 95316772 | missense variant | A/C;G;N;T | snv | 0.29 | 0.010 | 1.000 | 1 | 2019 | 2019 |