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 | 0.120 | 2 | 44312653 | missense variant | T/A;C | snv | 9.2E-05; 2.5E-03 | 0.840 | 1.000 | 28 | 1994 | 2017 | ||||
|
1 | 1.000 | 0.120 | 2 | 44312607 | missense variant | C/A;G;T | snv | 8.0E-06; 8.4E-05 | 0.800 | 1.000 | 17 | 1994 | 2015 | ||||
|
1 | 1.000 | 0.120 | 19 | 32864261 | missense variant | C/T | snv | 2.7E-04 | 1.7E-04 | 0.800 | 1.000 | 14 | 1999 | 2015 | |||
|
1 | 1.000 | 0.120 | 2 | 44320614 | missense variant | T/C | snv | 0.800 | 1.000 | 13 | 1994 | 2012 | |||||
|
1 | 1.000 | 0.120 | 2 | 44280827 | missense variant | G/A;T | snv | 1.6E-05; 8.0E-06 | 0.800 | 1.000 | 13 | 1994 | 2012 | ||||
|
1 | 1.000 | 0.120 | 2 | 44320536 | missense variant | C/G;T | snv | 1.2E-05 | 0.800 | 1.000 | 13 | 1994 | 2012 | ||||
|
1 | 1.000 | 0.120 | 2 | 44320424 | missense variant | C/A;T | snv | 1.6E-05; 4.0E-06 | 0.800 | 1.000 | 13 | 1994 | 2012 | ||||
|
1 | 1.000 | 0.120 | 2 | 44301076 | missense variant | G/A | snv | 3.6E-05 | 7.0E-06 | 0.800 | 1.000 | 13 | 1994 | 2012 | |||
|
2 | 0.925 | 0.120 | 19 | 32862557 | missense variant | C/T | snv | 4.0E-06 | 0.800 | 1.000 | 11 | 1999 | 2012 | ||||
|
1 | 1.000 | 0.120 | 19 | 32862482 | missense variant | C/T | snv | 8.0E-06 | 0.800 | 1.000 | 11 | 1999 | 2012 | ||||
|
1 | 1.000 | 0.120 | 19 | 32843932 | missense variant | G/A | snv | 8.8E-05 | 4.2E-05 | 0.800 | 1.000 | 11 | 1999 | 2012 | |||
|
1 | 1.000 | 0.120 | 19 | 32864733 | missense variant | A/G | snv | 0.800 | 1.000 | 11 | 1999 | 2012 | |||||
|
1 | 1.000 | 0.120 | 19 | 32859932 | missense variant | G/A | snv | 1.1E-04 | 1.4E-04 | 0.800 | 1.000 | 11 | 1999 | 2012 | |||
|
1 | 1.000 | 0.120 | 19 | 32862127 | missense variant | T/C | snv | 1.1E-04 | 1.2E-04 | 0.800 | 1.000 | 11 | 1999 | 2012 | |||
|
1 | 1.000 | 0.120 | 19 | 32859939 | missense variant | C/T | snv | 8.0E-06 | 7.0E-06 | 0.800 | 1.000 | 10 | 1999 | 2010 | |||
|
1 | 1.000 | 0.120 | 19 | 32862521 | missense variant | C/A;T | snv | 4.0E-06; 2.6E-03 | 0.800 | 1.000 | 9 | 1999 | 2015 | ||||
|
1 | 1.000 | 0.120 | 19 | 32864206 | missense variant | G/A | snv | 1.9E-04 | 2.2E-04 | 0.800 | 1.000 | 9 | 2001 | 2017 | |||
|
1 | 1.000 | 0.120 | 19 | 32862151 | missense variant | G/A;C;T | snv | 4.0E-05; 1.2E-05 | 0.800 | 1.000 | 5 | 2002 | 2015 | ||||
|
2 | 0.925 | 0.120 | 2 | 44281423 | missense variant | C/G;T | snv | 9.1E-05 | 0.710 | 1.000 | 13 | 1994 | 2013 | ||||
|
1 | 1.000 | 0.120 | 2 | 44286074 | stop gained | C/T | snv | 3.9E-04 | 1.9E-04 | 0.710 | 1.000 | 6 | 1995 | 2009 | |||
|
1 | 1.000 | 0.120 | 2 | 44280833 | missense variant | T/C | snv | 7.0E-06 | 0.700 | 1.000 | 12 | 1994 | 2010 | ||||
|
1 | 1.000 | 0.120 | 2 | 44312619 | missense variant | C/T | snv | 2.4E-05 | 7.0E-06 | 0.700 | 1.000 | 12 | 1994 | 2010 | |||
|
1 | 1.000 | 0.120 | 2 | 44280851 | missense variant | C/A;T | snv | 8.0E-06; 2.7E-03 | 0.700 | 1.000 | 12 | 1994 | 2010 | ||||
|
1 | 1.000 | 0.120 | 2 | 44320380 | missense variant | G/A | snv | 8.0E-05 | 9.1E-05 | 0.700 | 1.000 | 12 | 1994 | 2010 | |||
|
1 | 1.000 | 0.120 | 2 | 44312634 | missense variant | T/C | snv | 8.2E-04 | 4.3E-04 | 0.700 | 1.000 | 12 | 1994 | 2010 |