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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
1 | 1.000 | 0.040 | 10 | 14908688 | missense variant | T/G | snv | 1.6E-05 | 7.0E-06 | 0.010 | 1.000 | 1 | 2001 | 2001 | |||
|
2 | 0.925 | 0.120 | 1 | 206834296 | 5 prime UTR variant | C/A;G;T | snv | 0.010 | 1.000 | 1 | 2004 | 2004 | |||||
|
1 | 1.000 | 0.040 | 1 | 206836189 | intron variant | A/G | snv | 4.5E-02 | 0.010 | 1.000 | 1 | 2004 | 2004 | ||||
|
4 | 0.851 | 0.200 | 1 | 206841127 | intron variant | A/C;T | snv | 0.69 | 0.010 | 1.000 | 1 | 2004 | 2004 | ||||
|
1 | 1.000 | 0.040 | 17 | 74769592 | downstream gene variant | G/A | snv | 0.34 | 0.010 | < 0.001 | 1 | 2005 | 2005 | ||||
|
46 | 0.611 | 0.600 | 16 | 50722629 | missense variant | G/C;T | snv | 1.1E-02; 2.2E-04 | 0.710 | 1.000 | 2 | 2006 | 2016 | ||||
|
54 | 0.587 | 0.520 | 16 | 50712015 | missense variant | C/T | snv | 2.6E-02 | 2.9E-02 | 0.010 | < 0.001 | 1 | 2006 | 2006 | |||
|
14 | 0.732 | 0.440 | 5 | 159395637 | intron variant | G/C | snv | 0.35 | 0.100 | 0.818 | 11 | 2007 | 2018 | ||||
|
65 | 0.566 | 0.840 | 5 | 159315942 | 3 prime UTR variant | T/G | snv | 0.26 | 0.100 | 0.900 | 10 | 2007 | 2018 | ||||
|
4 | 0.851 | 0.280 | 6 | 31344549 | intron variant | T/G | snv | 8.8E-02 | 0.800 | 1.000 | 2 | 2007 | 2008 | ||||
|
8 | 0.827 | 0.080 | 16 | 89919436 | missense variant | G/T | snv | 8.6E-02 | 8.0E-02 | 0.010 | 1.000 | 1 | 2007 | 2007 | |||
|
1 | 1.000 | 0.040 | 8 | 26864276 | missense variant | C/A | snv | 8.0E-06 | 0.010 | 1.000 | 1 | 2007 | 2007 | ||||
|
16 | 0.732 | 0.280 | 16 | 89919746 | missense variant | G/A | snv | 0.15 | 8.3E-02 | 0.010 | 1.000 | 1 | 2007 | 2007 | |||
|
1 | 1.000 | 0.040 | 20 | 23035661 | missense variant | G/T | snv | 0.010 | 1.000 | 1 | 2007 | 2007 | |||||
|
46 | 0.597 | 0.680 | 1 | 67240275 | missense variant | G/A | snv | 4.2E-02 | 4.6E-02 | 0.900 | 0.857 | 14 | 2008 | 2018 | |||
|
52 | 0.585 | 0.720 | 5 | 132660272 | missense variant | A/G | snv | 0.72 | 0.77 | 0.860 | 0.900 | 10 | 2008 | 2015 | |||
|
121 | 0.498 | 0.800 | 1 | 113834946 | missense variant | A/G | snv | 0.93 | 0.93 | 0.740 | 0.800 | 5 | 2008 | 2016 | |||
|
11 | 0.807 | 0.200 | 6 | 31306778 | intron variant | C/T | snv | 0.12 | 0.810 | 1.000 | 4 | 2008 | 2018 | ||||
|
2 | 0.925 | 0.120 | 20 | 49905793 | synonymous variant | G/A | snv | 0.44 | 0.35 | 0.810 | 1.000 | 4 | 2008 | 2015 | |||
|
12 | 0.742 | 0.400 | 1 | 67219704 | missense variant | T/A;C | snv | 0.88 | 0.040 | 1.000 | 4 | 2008 | 2014 | ||||
|
12 | 0.790 | 0.320 | 6 | 31464003 | non coding transcript exon variant | T/G | snv | 2.7E-02 | 2.4E-02 | 0.820 | 1.000 | 2 | 2008 | 2014 | |||
|
43 | 0.658 | 0.640 | 1 | 152313385 | stop gained | G/A;T | snv | 9.4E-03; 8.0E-06 | 0.020 | 0.500 | 2 | 2008 | 2012 | ||||
|
8 | 0.807 | 0.240 | 5 | 132660808 | 3 prime UTR variant | A/C | snv | 0.67 | 0.020 | 1.000 | 2 | 2008 | 2011 | ||||
|
1 | 1.000 | 0.040 | 8 | 103931366 | missense variant | T/C | snv | 0.010 | 1.000 | 1 | 2008 | 2008 | |||||
|
5 | 0.827 | 0.200 | 1 | 152313454 | missense variant | G/A | snv | 0.27 | 0.19 | 0.010 | 1.000 | 1 | 2008 | 2008 |