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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
614 | 0.330 | 0.920 | 1 | 11796309 | missense variant | A/G | snv | 4.0E-06 | 7.0E-06 | 0.100 | 0.839 | 56 | 1999 | 2018 | |||
|
484 | 0.351 | 0.840 | 7 | 140753336 | missense variant | A/C;G;T | snv | 4.0E-06 | 0.100 | 0.980 | 51 | 2005 | 2020 | ||||
|
480 | 0.354 | 0.840 | 7 | 140753335 | missense variant | CA/AT;TT | mnv | 0.100 | 0.980 | 51 | 2005 | 2020 | |||||
|
306 | 0.405 | 0.880 | 1 | 11794407 | missense variant | T/G | snv | 0.100 | 0.870 | 23 | 2002 | 2018 | |||||
|
36 | 0.658 | 0.440 | 5 | 112839511 | frameshift variant | TAAA/- | delins | 0.100 | 0.950 | 20 | 1997 | 2007 | |||||
|
36 | 0.649 | 0.440 | 5 | 112839514 | missense variant | T/A | snv | 8.0E-06; 2.0E-03 | 1.2E-03 | 0.100 | 0.950 | 20 | 1997 | 2007 | |||
|
242 | 0.426 | 0.800 | 17 | 7676154 | missense variant | G/C;T | snv | 0.67 | 0.100 | 0.867 | 15 | 2006 | 2018 | ||||
|
213 | 0.439 | 0.800 | 17 | 7676154 | frameshift variant | -/C | ins | 0.100 | 0.933 | 15 | 2006 | 2018 | |||||
|
205 | 0.441 | 0.800 | 19 | 43551574 | missense variant | T/C | snv | 0.68 | 0.71 | 0.100 | 0.867 | 15 | 2004 | 2015 | |||
|
55 | 0.578 | 0.440 | 8 | 127401060 | non coding transcript exon variant | G/T | snv | 0.37 | 0.100 | 0.933 | 15 | 2007 | 2019 | ||||
|
213 | 0.439 | 0.800 | 17 | 7676153 | missense variant | GG/AC | mnv | 0.100 | 0.933 | 15 | 2006 | 2018 | |||||
|
147 | 0.476 | 0.800 | 3 | 9757089 | missense variant | C/G | snv | 0.27 | 0.22 | 0.100 | 0.538 | 13 | 2005 | 2015 | |||
|
48 | 0.623 | 0.280 | 7 | 55191846 | missense variant | A/T | snv | 0.100 | 1.000 | 13 | 2010 | 2019 | |||||
|
103 | 0.519 | 0.680 | 14 | 103699416 | missense variant | G/A | snv | 0.29 | 0.30 | 0.100 | 1.000 | 13 | 2004 | 2018 | |||
|
110 | 0.512 | 0.760 | 12 | 53991815 | mature miRNA variant | C/T | snv | 0.39 | 0.34 | 0.080 | 0.875 | 8 | 2012 | 2018 | |||
|
134 | 0.487 | 0.760 | 19 | 45351661 | stop gained | T/A;G | snv | 4.0E-06; 0.32 | 0.080 | 0.750 | 8 | 2005 | 2016 | ||||
|
187 | 0.457 | 0.880 | 11 | 67585218 | missense variant | A/G | snv | 0.34 | 0.36 | 0.080 | 1.000 | 8 | 2002 | 2013 | |||
|
151 | 0.474 | 0.800 | 19 | 43553422 | missense variant | G/A | snv | 9.5E-02 | 7.0E-02 | 0.080 | 0.875 | 8 | 2009 | 2016 | |||
|
16 | 0.732 | 0.200 | 5 | 112839543 | missense variant | G/C | snv | 4.4E-03 | 5.6E-03 | 0.080 | 0.875 | 8 | 2000 | 2016 | |||
|
193 | 0.447 | 0.880 | 5 | 160485411 | mature miRNA variant | C/G | snv | 0.71; 4.1E-06 | 0.70 | 0.080 | 0.875 | 8 | 2012 | 2018 | |||
|
93 | 0.529 | 0.840 | 12 | 111803962 | missense variant | G/A | snv | 1.9E-02 | 5.8E-03 | 0.080 | 1.000 | 8 | 2005 | 2016 | |||
|
45 | 0.597 | 0.480 | 22 | 28725099 | missense variant | A/C;G | snv | 4.1E-03 | 0.070 | 1.000 | 7 | 2006 | 2013 | ||||
|
230 | 0.435 | 0.880 | 6 | 26092913 | missense variant | G/A | snv | 3.3E-02 | 3.8E-02 | 0.070 | 0.857 | 7 | 2003 | 2015 | |||
|
127 | 0.500 | 0.840 | 3 | 12351626 | missense variant | C/G | snv | 0.11 | 8.9E-02 | 0.070 | 1.000 | 7 | 2005 | 2010 | |||
|
117 | 0.510 | 0.840 | 3 | 12379739 | missense variant | C/G | snv | 0.070 | 1.000 | 7 | 2005 | 2010 |