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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
306 | 0.405 | 0.880 | 1 | 11794407 | missense variant | T/G | snv | 0.080 | 1.000 | 8 | 2006 | 2018 | |||||
|
15 | 0.732 | 0.280 | 7 | 19009765 | regulatory region variant | G/A | snv | 0.19 | 0.850 | 1.000 | 7 | 2012 | 2019 | ||||
|
25 | 0.695 | 0.400 | 11 | 46739505 | 3 prime UTR variant | G/A | snv | 9.6E-03 | 0.810 | 1.000 | 6 | 2001 | 2016 | ||||
|
134 | 0.501 | 0.800 | 1 | 230710048 | missense variant | A/G | snv | 0.55 | 0.58 | 0.060 | 1.000 | 6 | 1995 | 2019 | |||
|
102 | 0.524 | 0.760 | 11 | 46725976 | missense variant | C/T | snv | 8.0E-06 | 0.050 | 1.000 | 5 | 1999 | 2016 | ||||
|
10 | 0.776 | 0.320 | 13 | 30737959 | intron variant | A/T | snv | 0.52 | 0.040 | 1.000 | 4 | 2011 | 2016 | ||||
|
60 | 0.614 | 0.520 | 9 | 22125504 | intron variant | G/C | snv | 0.41 | 0.720 | 1.000 | 4 | 2009 | 2016 | ||||
|
174 | 0.472 | 0.880 | 1 | 11796321 | missense variant | G/A | snv | 0.31 | 0.27 | 0.040 | 1.000 | 4 | 2005 | 2018 | |||
|
12 | 0.752 | 0.240 | 4 | 110789013 | intergenic variant | C/T | snv | 0.18 | 0.820 | 1.000 | 4 | 2008 | 2013 | ||||
|
242 | 0.426 | 0.800 | 17 | 7676154 | missense variant | G/C;T | snv | 0.67 | 0.030 | 1.000 | 3 | 2011 | 2019 | ||||
|
214 | 0.456 | 0.840 | 7 | 87509329 | synonymous variant | A/G;T | snv | 0.50 | 0.030 | 1.000 | 3 | 2010 | 2012 | ||||
|
214 | 0.439 | 0.800 | 17 | 7676154 | frameshift variant | -/C | ins | 0.030 | 1.000 | 3 | 2011 | 2019 | |||||
|
3 | 0.925 | 0.080 | 7 | 18992312 | intron variant | C/T | snv | 0.13 | 0.830 | 1.000 | 3 | 2012 | 2015 | ||||
|
100 | 0.532 | 0.760 | 17 | 63490960 | missense variant | T/C | snv | 4.0E-06 | 0.030 | 1.000 | 3 | 2003 | 2019 | ||||
|
41 | 0.637 | 0.680 | 1 | 169732649 | missense variant | C/G;T | snv | 4.0E-06; 4.0E-06 | 0.030 | 1.000 | 3 | 2009 | 2014 | ||||
|
262 | 0.435 | 0.880 | 6 | 26092913 | missense variant | G/A | snv | 3.3E-02 | 3.8E-02 | 0.030 | 1.000 | 3 | 2002 | 2014 | |||
|
6 | 0.827 | 0.200 | 19 | 15187315 | missense variant | G/A;C | snv | 3.2E-04; 4.0E-06 | 0.030 | 1.000 | 3 | 2013 | 2019 | ||||
|
57 | 0.576 | 0.600 | 1 | 186681189 | non coding transcript exon variant | C/G;T | snv | 0.030 | 1.000 | 3 | 2011 | 2015 | |||||
|
5 | 0.925 | 0.080 | 14 | 61457521 | missense variant | G/A | snv | 3.1E-02 | 1.6E-02 | 0.720 | 1.000 | 3 | 2007 | 2014 | |||
|
22 | 0.695 | 0.280 | 9 | 22115960 | intron variant | A/G | snv | 0.64 | 0.030 | 1.000 | 3 | 2009 | 2018 | ||||
|
205 | 0.441 | 0.800 | 19 | 43551574 | missense variant | T/C | snv | 0.68 | 0.71 | 0.030 | 1.000 | 3 | 2012 | 2016 | |||
|
193 | 0.447 | 0.880 | 5 | 160485411 | mature miRNA variant | C/G | snv | 0.71; 4.1E-06 | 0.70 | 0.030 | 1.000 | 3 | 2014 | 2017 | |||
|
27 | 0.683 | 0.400 | 4 | 2904980 | missense variant | G/A;T | snv | 1.2E-05; 0.20 | 0.030 | 1.000 | 3 | 2001 | 2008 | ||||
|
47 | 0.623 | 0.720 | 1 | 169731919 | missense variant | T/G | snv | 8.3E-02; 8.0E-06 | 7.8E-02 | 0.030 | 1.000 | 3 | 2009 | 2014 | |||
|
106 | 0.532 | 0.760 | 12 | 6845711 | synonymous variant | C/T | snv | 0.36 | 0.44 | 0.030 | 1.000 | 3 | 2013 | 2017 |