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 | 2 | 240871398 | stop gained | C/A;T | snv | 4.4E-06; 4.4E-06 | 0.800 | 1.000 | 9 | 2005 | 2015 | ||||
|
1 | 1.000 | 0.160 | 2 | 240875165 | stop gained | G/A | snv | 0.700 | 1.000 | 3 | 2007 | 2014 | |||||
|
1 | 1.000 | 0.160 | 2 | 240868995 | stop gained | C/T | snv | 0.700 | 1.000 | 2 | 1999 | 2001 | |||||
|
1 | 1.000 | 0.160 | 2 | 240869246 | stop gained | C/A;T | snv | 1.2E-05 | 0.700 | 1.000 | 2 | 2009 | 2014 | ||||
|
1 | 1.000 | 0.160 | 2 | 240870649 | stop gained | C/T | snv | 6.3E-06 | 0.710 | 1.000 | 2 | 2009 | 2019 | ||||
|
1 | 1.000 | 0.160 | 2 | 240877581 | stop gained | T/C;G | snv | 6.5E-06 | 0.700 | 1.000 | 2 | 2009 | 2014 | ||||
|
1 | 1.000 | 0.160 | 2 | 240869202 | stop gained | C/G;T | snv | 4.0E-06; 4.0E-05 | 0.700 | 1.000 | 1 | 1991 | 1991 | ||||
|
1 | 1.000 | 0.160 | 2 | 240875166 | stop gained | G/A | snv | 0.700 | 1.000 | 1 | 1997 | 1997 | |||||
|
1 | 1.000 | 0.160 | 14 | 102086347 | stop gained | G/A;T | snv | 7.6E-05 | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||
|
1 | 1.000 | 0.160 | 2 | 240869209 | stop gained | C/T | snv | 0.700 | 1.000 | 1 | 2009 | 2009 | |||||
|
1 | 1.000 | 0.160 | 2 | 240869327 | stop gained | G/A | snv | 0.700 | 1.000 | 1 | 2009 | 2009 | |||||
|
1 | 1.000 | 0.160 | 2 | 240869335 | stop gained | C/A;T | snv | 8.2E-06 | 0.700 | 1.000 | 1 | 2004 | 2004 | ||||
|
1 | 1.000 | 0.160 | 2 | 240870694 | stop gained | C/T | snv | 0.700 | 1.000 | 1 | 2009 | 2009 | |||||
|
1 | 1.000 | 0.160 | 2 | 240871444 | stop gained | C/A;G;T | snv | 9.9E-06; 5.0E-06; 1.5E-05 | 0.700 | 1.000 | 1 | 2004 | 2004 | ||||
|
1 | 1.000 | 0.160 | 2 | 240873994 | stop gained | C/A | snv | 0.700 | 1.000 | 1 | 2005 | 2005 | |||||
|
1 | 1.000 | 0.160 | 2 | 240873996 | stop gained | C/A;T | snv | 4.0E-06 | 0.700 | 1.000 | 1 | 2009 | 2009 | ||||
|
1 | 1.000 | 0.160 | 2 | 240875181 | stop gained | G/A | snv | 0.700 | 1.000 | 1 | 2004 | 2004 | |||||
|
1 | 1.000 | 0.160 | 2 | 240876002 | stop gained | C/A;T | snv | 0.700 | 1.000 | 1 | 2004 | 2004 | |||||
|
1 | 1.000 | 0.160 | 2 | 240877543 | stop gained | G/T | snv | 0.700 | 1.000 | 1 | 2009 | 2009 | |||||
|
1 | 1.000 | 0.160 | 2 | 240877597 | stop gained | C/T | snv | 7.0E-06 | 0.700 | 1.000 | 1 | 2007 | 2007 | ||||
|
1 | 1.000 | 0.160 | 2 | 240878076 | stop gained | A/C;T | snv | 4.0E-06 | 0.700 | 1.000 | 1 | 1999 | 1999 | ||||
|
1 | 1.000 | 0.160 | 2 | 240875180 | stop gained | G/A | snv | 7.0E-06 | 0.700 | 1.000 | 1 | 2004 | 2004 | ||||
|
1 | 1.000 | 0.160 | 2 | 240878075 | stop gained | G/A;C | snv | 0.700 | 1.000 | 1 | 2015 | 2015 | |||||
|
1 | 1.000 | 0.160 | 2 | 240869353 | stop gained | G/A;T | snv | 4.3E-06 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.160 | 2 | 240877612 | stop gained | C/T | snv | 0.700 | 0 |