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 | 0.120 | 19 | 32830639 | missense variant | G/A | snv | 3.6E-05 | 4.9E-05 | 0.700 | 1.000 | 10 | 1999 | 2010 | |||
|
1 | 1.000 | 0.120 | 19 | 32842191 | missense variant | T/C | snv | 1.2E-05 | 7.0E-06 | 0.700 | 1.000 | 10 | 1999 | 2010 | |||
|
1 | 1.000 | 0.120 | 19 | 32842248 | missense variant | C/A;T | snv | 4.0E-06; 4.4E-05 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.120 | 19 | 32842255 | missense variant | G/C | snv | 4.0E-06 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.120 | 19 | 32843869 | missense variant | C/T | snv | 1.6E-05 | 2.8E-05 | 0.700 | 0 | ||||||
|
1 | 1.000 | 0.120 | 19 | 32843931 | missense variant | C/T | snv | 4.0E-06 | 7.0E-06 | 0.700 | 1.000 | 10 | 1999 | 2010 | |||
|
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 | 32843937 | missense variant | G/A;C | snv | 1.6E-05; 4.0E-06 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.120 | 19 | 32843941 | missense variant | C/A;T | snv | 1.4E-04 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||
|
1 | 1.000 | 0.120 | 19 | 32859857 | missense variant | G/A | snv | 4.0E-06 | 0.700 | 1.000 | 10 | 1999 | 2010 | ||||
|
1 | 1.000 | 0.120 | 19 | 32859867 | missense variant | G/A | snv | 7.0E-06 | 0.700 | 1.000 | 10 | 1999 | 2010 | ||||
|
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 | 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 | 32860605 | splice donor variant | C/G | snv | 4.0E-06 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.120 | 19 | 32860606 | missense variant | C/T | snv | 8.0E-06 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.120 | 19 | 32860633 | missense variant | A/G | snv | 4.0E-06 | 0.700 | 1.000 | 10 | 1999 | 2010 | ||||
|
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 | 32862151 | missense variant | G/A;C;T | snv | 4.0E-05; 1.2E-05 | 0.800 | 1.000 | 5 | 2002 | 2015 | ||||
|
1 | 1.000 | 0.120 | 19 | 32862207 | frameshift variant | -/T | delins | 1.4E-04 | 0.700 | 1.000 | 5 | 2002 | 2015 | ||||
|
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 | 32862503 | missense variant | C/G;T | snv | 4.0E-06; 2.4E-05 | 0.700 | 1.000 | 10 | 1999 | 2010 | ||||
|
1 | 1.000 | 0.120 | 19 | 32862506 | missense variant | T/A | snv | 3.2E-05 | 4.2E-05 | 0.700 | 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 | ||||
|
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 | 32864198 | missense variant | C/T | snv | 2.0E-05 | 3.5E-05 | 0.700 | 1.000 | 10 | 1999 | 2010 |