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 | 0.160 | 7 | 107696036 | missense variant | A/G | snv | 5.6E-05 | 6.3E-05 | 0.800 | 1.000 | 22 | 1997 | 2016 | |||
|
1 | 1.000 | 0.160 | 7 | 107690125 | missense variant | A/G | snv | 1.1E-04 | 1.5E-04 | 0.800 | 1.000 | 20 | 1997 | 2009 | |||
|
1 | 1.000 | 0.160 | 7 | 107698085 | missense variant | T/C | snv | 2.0E-05 | 2.1E-05 | 0.800 | 1.000 | 20 | 1997 | 2014 | |||
|
1 | 1.000 | 0.160 | 7 | 107702038 | missense variant | G/A;C | snv | 6.4E-05; 4.0E-06 | 0.800 | 1.000 | 18 | 1997 | 2009 | ||||
|
1 | 1.000 | 0.160 | 7 | 107702023 | missense variant | T/G | snv | 0.800 | 1.000 | 18 | 1997 | 2009 | |||||
|
1 | 1.000 | 0.160 | 7 | 107663435 | missense variant | G/C | snv | 4.0E-06 | 0.700 | 1.000 | 18 | 1997 | 2009 | ||||
|
1 | 1.000 | 0.160 | 7 | 107690205 | missense variant | G/C;T | snv | 8.0E-06 | 0.700 | 1.000 | 18 | 1997 | 2009 | ||||
|
1 | 1.000 | 0.160 | 7 | 107672147 | missense variant | A/G | snv | 7.0E-06 | 0.700 | 1.000 | 18 | 1997 | 2009 | ||||
|
1 | 1.000 | 0.160 | 7 | 107672242 | missense variant | T/C | snv | 0.700 | 1.000 | 18 | 1997 | 2009 | |||||
|
1 | 1.000 | 0.160 | 7 | 107701981 | missense variant | T/C | snv | 0.700 | 1.000 | 18 | 1997 | 2009 | |||||
|
1 | 1.000 | 0.160 | 7 | 107698042 | frameshift variant | -/C | delins | 0.700 | 1.000 | 7 | 2003 | 2013 | |||||
|
1 | 1.000 | 0.160 | 7 | 107690147 | missense variant | C/A | snv | 0.700 | 1.000 | 6 | 2006 | 2016 | |||||
|
1 | 1.000 | 0.160 | 7 | 107694419 | inframe deletion | TGC/- | delins | 2.8E-05 | 0.700 | 1.000 | 6 | 1998 | 2013 | ||||
|
1 | 1.000 | 0.160 | 7 | 107690212 | missense variant | A/G | snv | 8.0E-06 | 7.0E-06 | 0.700 | 1.000 | 6 | 2011 | 2015 | |||
|
1 | 1.000 | 0.160 | 7 | 107690152 | inframe deletion | TCT/- | delins | 0.700 | 1.000 | 6 | 2001 | 2015 | |||||
|
1 | 1.000 | 0.160 | 7 | 107696017 | missense variant | A/G | snv | 0.700 | 1.000 | 5 | 2013 | 2017 | |||||
|
1 | 1.000 | 0.160 | 7 | 107710089 | frameshift variant | T/- | delins | 0.700 | 1.000 | 5 | 1998 | 2014 | |||||
|
1 | 1.000 | 0.160 | 7 | 107710150 | missense variant | T/C | snv | 7.0E-06 | 0.700 | 1.000 | 4 | 2010 | 2015 | ||||
|
1 | 1.000 | 0.160 | 7 | 107674163 | splice acceptor variant | G/A | snv | 4.0E-06 | 0.700 | 1.000 | 4 | 2007 | 2015 | ||||
|
1 | 1.000 | 0.160 | 7 | 107694402 | splice acceptor variant | G/C | snv | 4.0E-06 | 0.700 | 1.000 | 4 | 2004 | 2010 | ||||
|
1 | 1.000 | 0.160 | 7 | 107674311 | missense variant | T/C | snv | 1.2E-05 | 1.4E-05 | 0.700 | 1.000 | 4 | 2011 | 2016 | |||
|
1 | 1.000 | 0.160 | 7 | 107663390 | missense variant | G/T | snv | 0.700 | 1.000 | 4 | 2009 | 2017 | |||||
|
1 | 1.000 | 0.160 | 7 | 107694481 | splice donor variant | G/C | snv | 1.6E-05 | 0.700 | 1.000 | 4 | 2006 | 2014 | ||||
|
1 | 1.000 | 0.160 | 7 | 107690134 | missense variant | C/A;T | snv | 8.0E-06; 4.0E-06 | 0.700 | 1.000 | 4 | 2007 | 2014 | ||||
|
1 | 1.000 | 0.160 | 7 | 107663410 | frameshift variant | T/- | del | 4.0E-06 | 3.5E-05 | 0.700 | 1.000 | 4 | 1999 | 2013 |