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 | |||||
|
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 | |||||||
|
1 | 13 | 32370448 | missense variant | G/A;T | snv | 0.700 | 1.000 | 9 | 2008 | 2018 | |||||||
|
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 | |||||||
|
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 | ||||||
|
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 | |||||||
|
1 | 2 | 47478381 | missense variant | A/G;T | snv | 1.2E-05 | 0.700 | 1.000 | 6 | 2006 | 2017 | ||||||
|
1 | 11 | 108343231 | frameshift variant | TCTC/-;TC | delins | 0.700 | 1.000 | 6 | 1996 | 2009 | |||||||
|
1 | 13 | 32363390 | missense variant | G/C;T | snv | 2.8E-05 | 0.700 | 1.000 | 6 | 2002 | 2019 | ||||||
|
1 | 5 | 112839342 | frameshift variant | AA/- | delins | 0.700 | 1.000 | 5 | 1992 | 2005 | |||||||
|
1 | 10 | 87957970 | missense variant | GT/TG | mnv | 0.700 | 1.000 | 5 | 1999 | 2016 | |||||||
|
1 | 9 | 132905869 | frameshift variant | CT/- | del | 0.700 | 1.000 | 5 | 1997 | 2008 | |||||||
|
1 | 3 | 10149810 | missense variant | C/T | snv | 0.700 | 1.000 | 5 | 2004 | 2016 | |||||||
|
1 | 5 | 112843524 | frameshift variant | TTAT/- | delins | 0.700 | 1.000 | 5 | 1992 | 2015 | |||||||
|
1 | 2 | 47475077 | inframe deletion | TGT/- | delins | 0.700 | 1.000 | 5 | 2004 | 2012 | |||||||
|
1 | 17 | 43057086 | missense variant | C/A;T | snv | 0.700 | 1.000 | 5 | 1975 | 2016 | |||||||
|
1 | 2 | 47800909 | missense variant | C/T | snv | 7.0E-06 | 0.700 | 1.000 | 5 | 2002 | 2015 |