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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
56 | 0.620 | 0.400 | 11 | 113400106 | missense variant | G/A | snv | 0.26 | 0.26 | 0.020 | 1.000 | 2 | 2011 | 2012 | |||
|
272 | 0.436 | 0.760 | 11 | 27658369 | missense variant | C/T | snv | 0.19 | 0.15 | 0.020 | 1.000 | 2 | 2011 | 2019 | |||
|
237 | 0.448 | 0.760 | 11 | 27658456 | missense variant | C/T | snv | 1.2E-05 | 0.020 | 1.000 | 2 | 2011 | 2019 | ||||
|
4 | 0.882 | 0.040 | 3 | 8761057 | intron variant | T/C | snv | 0.45 | 0.010 | < 0.001 | 1 | 2015 | 2015 | ||||
|
1 | 12 | 44328993 | intron variant | G/A | snv | 0.67 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||||
|
23 | 0.701 | 0.200 | 3 | 8760542 | intron variant | G/A | snv | 0.16 | 0.010 | < 0.001 | 1 | 2015 | 2015 | ||||
|
2 | 1.000 | 0.040 | 3 | 8755399 | intron variant | C/T | snv | 0.18 | 0.010 | < 0.001 | 1 | 2015 | 2015 | ||||
|
3 | 0.925 | 0.080 | 3 | 8753857 | intron variant | T/G | snv | 0.53 | 0.010 | < 0.001 | 1 | 2015 | 2015 | ||||
|
2 | 1.000 | 0.040 | 3 | 8755356 | intron variant | G/A;C | snv | 0.010 | < 0.001 | 1 | 2015 | 2015 | |||||
|
249 | 0.442 | 0.920 | 22 | 19963748 | missense variant | G/A | snv | 0.46 | 0.44 | 0.010 | < 0.001 | 1 | 2019 | 2019 | |||
|
2 | 1.000 | 0.040 | 3 | 8756900 | intron variant | C/T | snv | 0.27 | 0.010 | < 0.001 | 1 | 2015 | 2015 | ||||
|
42 | 0.641 | 0.320 | 3 | 8762685 | intron variant | A/G;T | snv | 0.010 | 1.000 | 1 | 2016 | 2016 |