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 | 0.851 | 0.160 | 11 | 17387907 | missense variant | G/A;C | snv | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.080 | 20 | 44424116 | missense variant | C/A;T | snv | 8.0E-06 | 7.0E-06 | 0.700 | 0 | ||||||
|
9 | 0.763 | 0.240 | 20 | 44406195 | missense variant | C/T | snv | 0.700 | 0 | ||||||||
|
43 | 0.677 | 0.600 | 2 | 25743913 | frameshift variant | G/- | delins | 0.700 | 0 | ||||||||
|
41 | 0.637 | 0.480 | 8 | 19956018 | missense variant | A/G | snv | 1.3E-02 | 1.3E-02 | 0.010 | 1.000 | 1 | 1996 | 1996 | |||
|
131 | 0.500 | 0.840 | 3 | 12351626 | missense variant | C/G | snv | 0.11 | 8.9E-02 | 0.090 | 1.000 | 9 | 1999 | 2013 | |||
|
121 | 0.510 | 0.840 | 3 | 12379739 | missense variant | C/G | snv | 0.090 | 1.000 | 9 | 1999 | 2013 | |||||
|
29 | 0.653 | 0.480 | 1 | 156136985 | missense variant | G/A;T | snv | 0.030 | 1.000 | 3 | 2000 | 2000 | |||||
|
40 | 0.637 | 0.600 | 22 | 46198429 | missense variant | G/C;T | snv | 4.0E-06; 4.0E-06 | 0.010 | 1.000 | 1 | 2001 | 2001 | ||||
|
36 | 0.658 | 0.440 | 4 | 119320747 | missense variant | T/A;C;G | snv | 0.73 | 0.010 | < 0.001 | 1 | 2001 | 2001 | ||||
|
10 | 0.790 | 0.160 | 11 | 17394295 | missense variant | C/T | snv | 0.020 | 1.000 | 2 | 2003 | 2011 | |||||
|
15 | 0.732 | 0.320 | 1 | 156138697 | synonymous variant | C/T | snv | 8.0E-06 | 0.010 | 1.000 | 1 | 2004 | 2004 | ||||
|
1 | 1.000 | 0.040 | 11 | 120480110 | missense variant | A/G | snv | 3.3E-02 | 1.3E-02 | 0.010 | 1.000 | 1 | 2006 | 2006 | |||
|
134 | 0.501 | 0.800 | 1 | 230710048 | missense variant | A/G | snv | 0.55 | 0.58 | 0.010 | 1.000 | 1 | 2006 | 2006 | |||
|
8 | 0.882 | 0.200 | 7 | 5987033 | frameshift variant | GC/ACT | delins | 0.700 | 1.000 | 1 | 2007 | 2007 | |||||
|
2 | 0.925 | 0.040 | 5 | 143342788 | intron variant | T/C | snv | 0.15 | 0.010 | 1.000 | 1 | 2008 | 2008 | ||||
|
4 | 0.882 | 0.080 | 6 | 134167822 | downstream gene variant | T/G | snv | 0.22 | 0.010 | 1.000 | 1 | 2008 | 2008 | ||||
|
2 | 0.925 | 0.080 | 13 | 75359852 | stop gained | G/A;T | snv | 4.0E-06 | 0.020 | 1.000 | 2 | 2009 | 2013 | ||||
|
1 | 1.000 | 0.040 | 18 | 60371844 | missense variant | A/C | snv | 0.010 | 1.000 | 1 | 2009 | 2009 | |||||
|
1 | 1.000 | 0.040 | 18 | 60371445 | missense variant | T/A | snv | 8.0E-06 | 0.010 | 1.000 | 1 | 2009 | 2009 | ||||
|
18 | 0.763 | 0.160 | 2 | 226229029 | intergenic variant | T/C | snv | 0.67 | 0.010 | 1.000 | 1 | 2009 | 2009 | ||||
|
9 | 0.790 | 0.120 | 3 | 183840614 | missense variant | C/G;T | snv | 0.46; 1.2E-05 | 0.010 | 1.000 | 1 | 2009 | 2009 | ||||
|
54 | 0.597 | 0.640 | 5 | 148826910 | stop gained | G/C;T | snv | 0.68 | 0.010 | 1.000 | 1 | 2010 | 2010 | ||||
|
48 | 0.608 | 0.720 | 3 | 186853103 | synonymous variant | T/C;G | snv | 8.0E-06; 0.13 | 0.010 | < 0.001 | 1 | 2010 | 2010 | ||||
|
22 | 0.695 | 0.400 | 14 | 80203237 | missense variant | T/C | snv | 0.41 | 0.39 | 0.010 | 1.000 | 1 | 2010 | 2010 |