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 | 9 | 21971153 | missense variant | T/C | snv | 9.5E-06 | 2.8E-05 | 0.700 | 1.000 | 12 | 1998 | 2015 | |||||
|
2 | 1.000 | 13 | 32370420 | missense variant | C/T | snv | 8.0E-06 | 7.0E-06 | 0.700 | 1.000 | 12 | 2002 | 2018 | ||||
|
3 | 0.925 | 17 | 58696702 | missense variant | G/C | snv | 4.0E-06 | 1.4E-05 | 0.700 | 1.000 | 11 | 2010 | 2017 | ||||
|
1 | 1 | 161356815 | missense variant | A/G | snv | 7.0E-06 | 0.700 | 1.000 | 11 | 2009 | 2018 | ||||||
|
1 | 9 | 21971108 | missense variant | T/G | snv | 0.700 | 1.000 | 10 | 1998 | 2014 | |||||||
|
1 | 17 | 43057075 | missense variant | C/G;T | snv | 0.700 | 1.000 | 10 | 1998 | 2011 | |||||||
|
2 | 1.000 | 13 | 32362692 | missense variant | A/G | snv | 0.700 | 1.000 | 10 | 2005 | 2017 | ||||||
|
1 | 13 | 32370448 | missense variant | G/A;T | snv | 0.700 | 1.000 | 9 | 2008 | 2018 | |||||||
|
2 | 1.000 | 9 | 21974679 | missense variant | T/A;C;G | snv | 4.0E-06; 4.0E-06 | 0.700 | 1.000 | 8 | 2002 | 2013 | |||||
|
2 | 1.000 | 17 | 43091752 | frameshift variant | A/- | delins | 0.700 | 1.000 | 8 | 1995 | 2016 | ||||||
|
1 | 5 | 112838775 | frameshift variant | CAAA/- | delins | 0.700 | 1.000 | 7 | 1994 | 2008 | |||||||
|
1 | 19 | 1221973 | inframe deletion | GGTTCTCCATCCGGCAGA/- | delins | 0.700 | 1.000 | 7 | 1992 | 2014 | |||||||
|
1 | 10 | 87894102 | inframe deletion | GTA/- | delins | 0.700 | 1.000 | 7 | 1999 | 2015 | |||||||
|
1 | 17 | 31259069 | missense variant | A/G | snv | 0.700 | 1.000 | 7 | 1996 | 2013 | |||||||
|
3 | 1.000 | 5 | 251427 | missense variant | C/G;T | snv | 2.4E-05; 4.0E-06 | 0.700 | 1.000 | 7 | 2011 | 2018 | |||||
|
3 | 0.925 | 17 | 58720817 | splice region variant | G/T | snv | 1.6E-05 | 1.4E-05 | 0.700 | 1.000 | 7 | 2010 | 2015 | ||||
|
1 | 17 | 61808634 | missense variant | G/A | snv | 1.2E-05 | 3.5E-05 | 0.700 | 1.000 | 7 | 2010 | 2016 | |||||
|
1 | 11 | 64808030 | missense variant | T/A | snv | 0.700 | 1.000 | 7 | 1998 | 2016 | |||||||
|
1 | 17 | 43057077 | missense variant | C/A;G;T | snv | 3.6E-05 | 0.700 | 1.000 | 7 | 2003 | 2011 | ||||||
|
2 | 1.000 | 13 | 32326564 | stop gained | G/A | snv | 0.700 | 1.000 | 7 | 1996 | 2017 | ||||||
|
2 | 1.000 | 13 | 32329445 | frameshift variant | GA/- | delins | 7.0E-06 | 0.700 | 1.000 | 7 | 1999 | 2017 | |||||
|
1 | 13 | 48473391 | splice region variant | GAGT/- | delins | 0.700 | 1.000 | 6 | 1993 | 2015 | |||||||
|
1 | 10 | 87965294 | missense variant | T/C | snv | 0.700 | 1.000 | 6 | 1997 | 2013 | |||||||
|
3 | 0.925 | 17 | 58732548 | inframe deletion | GTA/- | delins | 0.700 | 1.000 | 6 | 2012 | 2017 | ||||||
|
2 | 2 | 47416350 | missense variant | T/C | snv | 0.700 | 1.000 | 6 | 2000 | 2010 |