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 | 20 | 47630030 | intron variant | G/A | snv | 0.47 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||||
|
1 | 1 | 183193404 | intron variant | G/A | snv | 0.57 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||||
|
2 | 8 | 20019235 | intergenic variant | G/C | snv | 8.5E-02 | 0.800 | 1.000 | 1 | 2010 | 2010 | ||||||
|
1 | 16 | 869919 | stop gained | G/C | snv | 4.0E-06 | 7.0E-06 | 0.010 | 1.000 | 1 | 2017 | 2017 | |||||
|
1 | 17 | 63484413 | missense variant | C/G;T | snv | 1.6E-05 | 0.010 | 1.000 | 1 | 2002 | 2002 | ||||||
|
2 | 11 | 116837145 | missense variant | C/G;T | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||||
|
1 | 19 | 4155009 | stop gained | G/A | snv | 1.6E-05 | 1.4E-05 | 0.010 | 1.000 | 1 | 2015 | 2015 | |||||
|
3 | 8 | 20071071 | intergenic variant | G/A | snv | 0.11 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||||
|
1 | 17 | 37162308 | intron variant | T/A;C | snv | 0.010 | 1.000 | 1 | 2009 | 2009 | |||||||
|
2 | 18 | 23299253 | intron variant | C/T | snv | 0.22 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||||
|
306 | 0.405 | 0.880 | 1 | 11794407 | missense variant | T/G | snv | 0.010 | 1.000 | 1 | 2015 | 2015 | |||||
|
246 | 0.430 | 0.880 | 7 | 150999023 | missense variant | T/A;G | snv | 0.75 | 0.010 | 1.000 | 1 | 2007 | 2007 | ||||
|
174 | 0.472 | 0.880 | 1 | 11796321 | missense variant | G/A | snv | 0.31 | 0.27 | 0.010 | 1.000 | 1 | 2018 | 2018 | |||
|
140 | 0.494 | 0.840 | 7 | 22727026 | intron variant | C/G | snv | 0.71 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
135 | 0.496 | 0.800 | 1 | 236885200 | missense variant | A/G | snv | 0.20 | 0.21 | 0.010 | 1.000 | 1 | 2015 | 2015 | |||
|
131 | 0.500 | 0.840 | 3 | 12351626 | missense variant | C/G | snv | 0.11 | 8.9E-02 | 0.010 | 1.000 | 1 | 2006 | 2006 | |||
|
121 | 0.510 | 0.840 | 3 | 12379739 | missense variant | C/G | snv | 0.020 | 1.000 | 2 | 2006 | 2013 | |||||
|
101 | 0.531 | 0.840 | 5 | 7870860 | missense variant | A/G | snv | 0.47 | 0.45 | 0.010 | 1.000 | 1 | 2015 | 2015 | |||
|
93 | 0.554 | 0.680 | 10 | 112998590 | intron variant | C/G;T | snv | 0.020 | 1.000 | 2 | 2010 | 2015 | |||||
|
77 | 0.554 | 0.760 | 1 | 65592830 | missense variant | A/G | snv | 0.51 | 0.50 | 0.010 | 1.000 | 1 | 2015 | 2015 | |||
|
88 | 0.557 | 0.720 | 22 | 43928847 | missense variant | C/G | snv | 0.28 | 0.22 | 0.020 | 1.000 | 2 | 2011 | 2012 | |||
|
63 | 0.576 | 0.800 | 5 | 148826877 | missense variant | G/A | snv | 0.42 | 0.43 | 0.010 | 1.000 | 1 | 2017 | 2017 | |||
|
66 | 0.590 | 0.600 | 19 | 44908684 | missense variant | T/C | snv | 0.14 | 0.16 | 0.040 | 0.750 | 4 | 1993 | 2004 | |||
|
54 | 0.597 | 0.640 | 5 | 148826910 | stop gained | G/C;T | snv | 0.68 | 0.020 | 1.000 | 2 | 2001 | 2010 | ||||
|
42 | 0.630 | 0.440 | 19 | 19268740 | missense variant | C/T | snv | 6.5E-02 | 5.8E-02 | 0.010 | 1.000 | 1 | 2015 | 2015 |