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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
7 | 0.827 | 0.400 | 1 | 1806512 | missense variant | C/G | snv | 0.700 | 0 | ||||||||
|
3 | 0.882 | 0.120 | 13 | 28018504 | missense variant | T/A;G | snv | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.120 | 13 | 28018500 | missense variant | G/C | snv | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.120 | 13 | 28018503 | missense variant | A/C;T | snv | 0.700 | 0 | ||||||||
|
7 | 0.807 | 0.120 | 13 | 28018505 | missense variant | C/A;G;T | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 3 | 47101485 | missense variant | G/A | snv | 7.0E-06 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.120 | 3 | 47123837 | missense variant | C/T | snv | 8.9E-05 | 3.5E-05 | 0.700 | 0 | ||||||
|
1 | 1.000 | 0.120 | 3 | 47122353 | missense variant | C/T | snv | 4.2E-04 | 7.0E-05 | 0.700 | 0 | ||||||
|
2 | 0.925 | 0.120 | 9 | 37002705 | missense variant | C/T | snv | 0.700 | 0 | ||||||||
|
262 | 0.435 | 0.880 | 6 | 26092913 | missense variant | G/A | snv | 3.3E-02 | 3.8E-02 | 0.010 | 1.000 | 1 | 2002 | 2002 | |||
|
23 | 0.701 | 0.280 | 8 | 89978293 | missense variant | T/C;G | snv | 1.2E-03 | 0.010 | 1.000 | 1 | 2004 | 2004 | ||||
|
5 | 0.827 | 0.120 | 9 | 130862976 | missense variant | G/A | snv | 0.010 | 1.000 | 1 | 2008 | 2008 | |||||
|
134 | 0.487 | 0.760 | 19 | 45351661 | stop gained | T/A;G | snv | 4.0E-06; 0.32 | 0.010 | 1.000 | 1 | 2008 | 2008 | ||||
|
33 | 0.637 | 0.520 | 21 | 45530890 | missense variant | G/A | snv | 0.010 | 1.000 | 1 | 2008 | 2008 | |||||
|
6 | 0.827 | 0.120 | 9 | 130862919 | missense variant | G/A | snv | 0.010 | 1.000 | 1 | 2008 | 2008 | |||||
|
38 | 0.627 | 0.600 | 21 | 45531904 | missense variant | C/A;T | snv | 9.7E-06; 1.4E-05 | 0.010 | 1.000 | 1 | 2008 | 2008 | ||||
|
2 | 0.925 | 0.200 | 6 | 140848688 | intron variant | A/G | snv | 8.5E-02 | 0.800 | 1.000 | 1 | 2009 | 2009 | ||||
|
1 | 1.000 | 0.120 | 2 | 200157231 | intergenic variant | T/C | snv | 0.88 | 0.700 | 1.000 | 1 | 2009 | 2009 | ||||
|
188 | 0.457 | 0.880 | 11 | 67585218 | missense variant | A/G | snv | 0.34 | 0.36 | 0.010 | 1.000 | 1 | 2009 | 2009 | |||
|
4 | 0.851 | 0.120 | 4 | 141788570 | intergenic variant | T/C | snv | 7.7E-02 | 0.700 | 1.000 | 1 | 2009 | 2009 | ||||
|
2 | 0.925 | 0.200 | 12 | 116564853 | intron variant | G/A | snv | 0.12 | 0.800 | 1.000 | 1 | 2009 | 2009 | ||||
|
2 | 0.925 | 0.200 | 19 | 44007237 | intron variant | G/T | snv | 0.62 | 0.800 | 1.000 | 1 | 2009 | 2009 | ||||
|
2 | 0.925 | 0.120 | 7 | 50461751 | intron variant | C/G | snv | 7.7E-02 | 0.700 | 1.000 | 1 | 2009 | 2009 | ||||
|
1 | 1.000 | 0.120 | 10 | 17346144 | intron variant | C/T | snv | 3.6E-02 | 0.700 | 1.000 | 1 | 2009 | 2009 | ||||
|
8 | 0.790 | 0.120 | 4 | 85766908 | intron variant | A/G | snv | 0.14 | 0.010 | 1.000 | 1 | 2010 | 2010 |