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 | 0.882 | 0.080 | 1 | 201361971 | inframe deletion | CTT/- | delins | 0.700 | 1.000 | 15 | 2000 | 2019 | |||||
|
6 | 0.827 | 0.080 | 1 | 201364336 | missense variant | G/A;T | snv | 1.2E-04 | 0.720 | 1.000 | 13 | 2001 | 2016 | ||||
|
16 | 0.708 | 0.360 | 1 | 156135967 | missense variant | C/A;T | snv | 4.0E-06 | 0.700 | 1.000 | 11 | 2012 | 2017 | ||||
|
4 | 1.000 | 0.080 | 14 | 23417174 | missense variant | G/A | snv | 0.700 | 1.000 | 11 | 2004 | 2015 | |||||
|
4 | 0.925 | 0.040 | 6 | 118558946 | missense variant | C/T | snv | 0.710 | 1.000 | 10 | 2003 | 2018 | |||||
|
3 | 1.000 | 0.160 | 2 | 219423817 | stop gained | C/T | snv | 1.2E-05 | 0.700 | 1.000 | 9 | 2000 | 2013 | ||||
|
15 | 0.732 | 0.120 | 3 | 38613781 | missense variant | C/A;T | snv | 4.1E-06 | 0.710 | 1.000 | 9 | 2008 | 2012 | ||||
|
4 | 0.925 | 0.080 | 1 | 156135956 | missense variant | G/A;C | snv | 1.2E-05 | 0.710 | 1.000 | 9 | 2007 | 2018 | ||||
|
5 | 0.851 | 0.080 | 1 | 201364366 | missense variant | G/A;C | snv | 0.720 | 1.000 | 8 | 2003 | 2016 | |||||
|
2 | 1.000 | 0.160 | 2 | 219420349 | splice region variant | A/G;T | snv | 0.700 | 1.000 | 7 | 2000 | 2013 | |||||
|
2 | 1.000 | 0.040 | 11 | 47339376 | frameshift variant | G/- | delins | 0.700 | 1.000 | 7 | 1998 | 2017 | |||||
|
3 | 0.925 | 0.080 | 14 | 23427879 | missense variant | A/G | snv | 0.700 | 1.000 | 6 | 1989 | 2013 | |||||
|
3 | 1.000 | 0.080 | 1 | 156135925 | stop gained | C/T | snv | 0.700 | 1.000 | 6 | 2006 | 2014 | |||||
|
6 | 0.925 | 0.120 | 1 | 156115162 | missense variant | G/A;C | snv | 0.720 | 1.000 | 6 | 2005 | 2010 | |||||
|
5 | 0.851 | 0.160 | 1 | 156137667 | missense variant | G/A;C | snv | 0.700 | 1.000 | 6 | 2003 | 2014 | |||||
|
2 | 1.000 | 0.040 | 10 | 110812303 | missense variant | C/A;T | snv | 0.700 | 1.000 | 5 | 2009 | 2016 | |||||
|
3 | 0.925 | 0.040 | 2 | 178782980 | missense variant | A/G;T | snv | 0.700 | 1.000 | 5 | 1999 | 2017 | |||||
|
4 | 0.882 | 0.160 | 1 | 156134474 | missense variant | C/A;G | snv | 0.710 | 1.000 | 5 | 1999 | 2007 | |||||
|
2 | 1.000 | 0.120 | X | 154420676 | missense variant | G/A;C | snv | 0.710 | 1.000 | 5 | 1973 | 2018 | |||||
|
4 | 0.925 | 0.080 | 14 | 23424118 | missense variant | C/G;T | snv | 0.700 | 1.000 | 5 | 2011 | 2017 | |||||
|
4 | 0.882 | 0.120 | 6 | 7559281 | stop gained | C/G;T | snv | 8.0E-06 | 0.700 | 1.000 | 5 | 2013 | 2017 | ||||
|
6 | 0.827 | 0.160 | 1 | 156134496 | missense variant | G/A | snv | 0.700 | 1.000 | 5 | 2001 | 2013 | |||||
|
2 | 1.000 | 0.040 | 14 | 23424119 | missense variant | G/A | snv | 4.0E-06 | 0.700 | 1.000 | 5 | 2011 | 2017 | ||||
|
5 | 0.851 | 0.080 | 1 | 201363349 | missense variant | G/A;C;T | snv | 4.0E-06 | 0.700 | 1.000 | 5 | 2012 | 2013 | ||||
|
1 | 2 | 178702186 | frameshift variant | CTGCCGTGCT/- | delins | 0.700 | 1.000 | 5 | 2002 | 2012 |