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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
11 | 0.790 | 0.160 | 19 | 13262780 | missense variant | C/T | snv | 0.700 | 0 | ||||||||
|
4 | 0.851 | 0.160 | 19 | 13255217 | stop gained | G/A | snv | 0.700 | 0 | ||||||||
|
3 | 0.882 | 0.160 | 19 | 13235219 | missense variant | A/G | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | 19 | 13335828 | missense variant | G/A | snv | 0.700 | 0 | ||||||||
|
5 | 0.851 | 0.160 | 19 | 13261526 | missense variant | C/G;T | snv | 0.700 | 0 | ||||||||
|
6 | 0.827 | 0.160 | 19 | 13303584 | missense variant | C/T | snv | 0.700 | 0 | ||||||||
|
14 | 0.732 | 0.160 | 19 | 13303877 | missense variant | G/A | snv | 0.830 | 1.000 | 13 | 1996 | 2018 | |||||
|
1 | 1.000 | 0.080 | 19 | 13303580 | missense variant | A/G | snv | 0.820 | 1.000 | 12 | 1996 | 2017 | |||||
|
4 | 0.925 | 0.080 | 19 | 13230185 | missense variant | T/G | snv | 0.820 | 1.000 | 12 | 1996 | 2017 | |||||
|
5 | 0.882 | 0.080 | 19 | 13371744 | missense variant | C/T | snv | 0.810 | 1.000 | 11 | 1996 | 2017 | |||||
|
12 | 0.790 | 0.120 | 19 | 13365448 | missense variant | G/A | snv | 0.820 | 1.000 | 11 | 1996 | 2017 | |||||
|
9 | 0.851 | 0.120 | 19 | 13308452 | missense variant | C/T | snv | 4.0E-06 | 0.800 | 1.000 | 10 | 1996 | 2017 | ||||
|
2 | 0.925 | 0.080 | 19 | 13303576 | missense variant | G/A;C;T | snv | 0.800 | 1.000 | 10 | 1996 | 2017 | |||||
|
1 | 1.000 | 0.080 | 19 | 13261552 | missense variant | T/C | snv | 0.800 | 1.000 | 10 | 1996 | 2017 | |||||
|
2 | 0.925 | 0.120 | 19 | 13235685 | missense variant | G/A | snv | 0.800 | 1.000 | 10 | 1996 | 2017 | |||||
|
1 | 1.000 | 0.080 | 19 | 13235637 | missense variant | A/G | snv | 0.700 | 1.000 | 10 | 1996 | 2017 | |||||
|
1 | 1.000 | 0.080 | 19 | 13371735 | missense variant | C/T | snv | 0.700 | 1.000 | 10 | 1996 | 2017 | |||||
|
2 | 0.925 | 0.080 | 19 | 13262823 | missense variant | T/C | snv | 0.700 | 1.000 | 10 | 1996 | 2017 | |||||
|
2 | 1.000 | 0.080 | 19 | 13235262 | missense variant | C/T | snv | 0.700 | 1.000 | 10 | 1996 | 2017 | |||||
|
5 | 0.882 | 0.080 | 19 | 13262789 | missense variant | C/T | snv | 0.800 | 1.000 | 10 | 1996 | 2017 | |||||
|
1 | 1.000 | 0.080 | 19 | 13259589 | missense variant | C/A | snv | 0.800 | 1.000 | 10 | 1996 | 2017 | |||||
|
3 | 0.882 | 0.080 | 1 | 160135510 | missense variant | T/C | snv | 0.020 | 1.000 | 2 | 2003 | 2004 | |||||
|
3 | 0.882 | 0.120 | 1 | 160135246 | missense variant | G/A | snv | 0.010 | 1.000 | 1 | 2003 | 2003 | |||||
|
2 | 0.925 | 0.120 | 19 | 13298829 | missense variant | C/T | snv | 2.6E-05 | 0.010 | 1.000 | 1 | 2003 | 2003 | ||||
|
2 | 0.925 | 0.080 | 1 | 160128667 | missense variant | A/G | snv | 0.010 | 1.000 | 1 | 2004 | 2004 |