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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
2 | 0.925 | 0.080 | 11 | 64758375 | intron variant | T/C | snv | 5.6E-05 | 9.1E-05 | 0.700 | 0 | ||||||
|
1 | 1.000 | 0.080 | 11 | 64759751 | stop gained | G/A | snv | 1.5E-03 | 1.8E-03 | 0.800 | 1.000 | 16 | 1993 | 2015 | |||
|
1 | 1.000 | 0.080 | 11 | 64755320 | stop gained | G/A | snv | 2.8E-05 | 0.710 | 1.000 | 7 | 2001 | 2009 | ||||
|
1 | 1.000 | 0.080 | 11 | 64758693 | stop gained | G/T | snv | 0.700 | 1.000 | 4 | 2003 | 2008 | |||||
|
1 | 1.000 | 0.080 | 11 | 64751966 | stop gained | G/A | snv | 4.0E-05 | 7.0E-06 | 0.700 | 1.000 | 3 | 1998 | 2012 | |||
|
1 | 1.000 | 0.080 | 11 | 64746948 | stop gained | G/A;T | snv | 0.700 | 1.000 | 1 | 2007 | 2007 | |||||
|
1 | 1.000 | 0.080 | 11 | 64751346 | stop gained | G/A | snv | 4.0E-06 | 2.1E-05 | 0.700 | 1.000 | 1 | 2007 | 2007 | |||
|
1 | 1.000 | 0.080 | 11 | 64751970 | stop gained | A/C;G | snv | 0.700 | 1.000 | 1 | 2003 | 2003 | |||||
|
1 | 1.000 | 0.080 | 11 | 64758491 | stop gained | C/A | snv | 0.700 | 1.000 | 1 | 2001 | 2001 | |||||
|
1 | 1.000 | 0.080 | 11 | 64759695 | stop gained | C/T | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | 11 | 64758696 | stop gained | G/C | snv | 2.1E-05 | 0.710 | 1.000 | 0 | 2004 | 2004 | ||||
|
1 | 1.000 | 0.080 | 11 | 64759682 | stop gained | G/A | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | 11 | 64750557 | stop gained | G/A;C | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | 11 | 64752071 | stop gained | C/A;T | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | 11 | 64751975 | stop gained | C/A;T | snv | 8.0E-06; 8.0E-06 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.080 | 11 | 64750497 | missense variant | C/T | snv | 4.8E-05 | 5.6E-05 | 0.800 | 1.000 | 15 | 1993 | 2015 | |||
|
1 | 1.000 | 0.080 | 11 | 64750442 | missense variant | G/A | snv | 1.2E-05 | 1.4E-05 | 0.700 | 1.000 | 13 | 1993 | 2002 | |||
|
1 | 1.000 | 0.080 | 11 | 64753128 | missense variant | G/T | snv | 0.710 | 1.000 | 13 | 1993 | 2002 | |||||
|
1 | 1.000 | 0.080 | 11 | 64757859 | missense variant | G/A | snv | 1.2E-05 | 7.0E-06 | 0.710 | 1.000 | 13 | 1993 | 2002 | |||
|
1 | 1.000 | 0.080 | 11 | 64751620 | missense variant | G/A | snv | 1.6E-05 | 0.700 | 1.000 | 13 | 1993 | 2002 | ||||
|
1 | 1.000 | 0.080 | 11 | 64758514 | missense variant | A/G | snv | 4.8E-05 | 2.1E-05 | 0.700 | 1.000 | 13 | 1993 | 2002 | |||
|
1 | 1.000 | 0.080 | 11 | 64754817 | missense variant | A/G | snv | 8.0E-06 | 2.1E-05 | 0.700 | 1.000 | 13 | 1993 | 2002 | |||
|
1 | 1.000 | 0.080 | 11 | 64746796 | missense variant | A/G;T | snv | 1.6E-05; 8.7E-05 | 0.720 | 1.000 | 9 | 2000 | 2017 | ||||
|
1 | 1.000 | 0.080 | 11 | 64757826 | missense variant | C/T | snv | 1.2E-04 | 2.7E-04 | 0.730 | 1.000 | 7 | 1993 | 2013 | |||
|
1 | 1.000 | 0.080 | 11 | 64754024 | missense variant | G/A | snv | 7.1E-04 | 7.3E-04 | 0.700 | 1.000 | 5 | 2006 | 2012 |