| 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. | ||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
4 | 0.882 | 0.160 | 20 | 4699380 | inframe insertion | TCATGGTGGTGGCTGGGGGCAGCCTCATGGTGGTGGCTGGGGGCAGCC/-;TCATGGTGGTGGCTGGGGGCAGCC;TCATGGTGGTGGCTGGGGGCAGCCTCATGGTGGTGGCTGGGGGCAGCCTCATGGTGGTGGCTGGGGGCAGCC;TCATGGTGGTGGCTGGGGGCAGCCTCATGGTGGTGGCTGGGGGCAGCCTCATGGTGGTGGCTGGGGGCAGCCTCATGGTGGTGGCTGGGGGCAGCC | delins | 0.700 | 0 | ||||||||
|
5 | 0.851 | 0.160 | 20 | 4699870 | missense variant | A/G | snv | 0.700 | 0 | ||||||||
|
5 | 0.851 | 0.120 | 20 | 4699843 | missense variant | G/A | snv | 6.0E-05 | 3.5E-05 | 0.700 | 0 | ||||||
|
4 | 1.000 | 20 | 4699698 | stop gained | C/T | snv | 0.700 | 0 | |||||||||
|
8 | 0.882 | 0.160 | 20 | 4699534 | missense variant | C/A;T | snv | 0.720 | 1.000 | 2 | 1993 | 1999 | |||||
|
3 | 0.925 | 0.160 | 17 | 80182758 | missense variant | T/C | snv | 8.0E-06 | 2.1E-05 | 0.010 | 1.000 | 1 | 1999 | 1999 | |||
|
4 | 0.925 | 0.160 | 20 | 4699851 | missense variant | G/C | snv | 0.010 | 1.000 | 1 | 2000 | 2000 | |||||
|
2 | 1.000 | 0.120 | 20 | 4699827 | missense variant | G/A | snv | 1.6E-05 | 2.8E-05 | 0.010 | 1.000 | 1 | 2000 | 2000 | |||
|
4 | 0.882 | 0.160 | 20 | 4699767 | missense variant | A/G | snv | 0.710 | 1.000 | 1 | 2004 | 2004 | |||||
|
2 | 1.000 | 0.120 | 20 | 4699783 | missense variant | C/G;T | snv | 3.2E-05; 4.0E-05 | 0.020 | 1.000 | 2 | 2002 | 2010 | ||||
|
8 | 0.807 | 0.160 | 20 | 4699780 | missense variant | A/G | snv | 0.720 | 1.000 | 2 | 2000 | 2010 | |||||
|
5 | 0.882 | 0.200 | 20 | 4699533 | missense variant | C/A;T | snv | 4.0E-06 | 0.720 | 1.000 | 2 | 2008 | 2011 | ||||
|
4 | 0.925 | 0.120 | 20 | 4699824 | missense variant | G/A | snv | 4.0E-06 | 7.0E-06 | 0.020 | 1.000 | 2 | 2007 | 2011 | |||
|
5 | 0.882 | 0.120 | 20 | 4699732 | missense variant | A/G | snv | 3.8E-03 | 1.6E-02 | 0.010 | 1.000 | 1 | 2011 | 2011 | |||
|
2 | 1.000 | 0.120 | 16 | 85517 | missense variant | G/A | snv | 8.0E-06 | 5.6E-05 | 0.010 | 1.000 | 1 | 2011 | 2011 | |||
|
1 | 7 | 29316787 | intron variant | G/A | snv | 0.12 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||||
|
2 | 1.000 | 0.040 | 10 | 60635760 | intron variant | G/A | snv | 0.11 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||
|
19 | 0.752 | 0.160 | 8 | 27607002 | intron variant | T/C | snv | 0.56 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||
|
4 | 0.882 | 0.080 | 7 | 143412046 | intron variant | T/C | snv | 0.18 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||
|
2 | 1.000 | 0.080 | 1 | 202421786 | intron variant | C/T | snv | 3.5E-05 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||
|
3 | 1.000 | 0.040 | 12 | 122811747 | intron variant | G/A | snv | 0.39 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||
|
16 | 0.742 | 0.200 | 7 | 12244161 | downstream gene variant | A/G | snv | 0.52 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||
|
2 | 1.000 | 0.040 | 12 | 40034759 | intron variant | G/A;T | snv | 0.700 | 1.000 | 1 | 2012 | 2012 | |||||
|
45 | 0.662 | 0.360 | 19 | 44892362 | intron variant | A/G | snv | 0.13 | 0.13 | 0.700 | 1.000 | 1 | 2012 | 2012 | |||
|
4 | 0.882 | 0.080 | 4 | 89757390 | intron variant | G/A;T | snv | 0.700 | 1.000 | 1 | 2012 | 2012 |