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 | 0.040 | 1 | 17028724 | missense variant | G/A;C | snv | 8.0E-06 | 0.800 | 1.000 | 10 | 2001 | 2014 | ||||
|
1 | 1.000 | 0.040 | 1 | 17028721 | missense variant | C/T | snv | 0.800 | 1.000 | 10 | 2001 | 2014 | |||||
|
2 | 1.000 | 0.040 | 1 | 17044767 | missense variant | A/G;T | snv | 0.700 | 1.000 | 10 | 2001 | 2014 | |||||
|
1 | 1.000 | 0.040 | 14 | 65102315 | missense variant | C/A | snv | 8.9E-05 | 7.0E-05 | 0.700 | 1.000 | 6 | 2011 | 2015 | |||
|
1 | 1.000 | 0.040 | 2 | 96254107 | missense variant | A/G | snv | 0.800 | 1.000 | 5 | 2010 | 2014 | |||||
|
1 | 1.000 | 0.040 | 2 | 96254106 | missense variant | C/A;T | snv | 4.0E-06 | 0.800 | 1.000 | 5 | 2010 | 2014 | ||||
|
1 | 1.000 | 0.040 | 3 | 10142035 | missense variant | T/A;C | snv | 0.700 | 1.000 | 3 | 2013 | 2014 | |||||
|
1 | 1.000 | 0.040 | 2 | 96265174 | missense variant | C/T | snv | 2.0E-04 | 7.2E-04 | 0.700 | 1.000 | 2 | 2010 | 2010 | |||
|
1 | 1.000 | 0.040 | 2 | 96265165 | missense variant | C/G | snv | 3.7E-05 | 3.5E-05 | 0.700 | 1.000 | 2 | 2010 | 2010 | |||
|
1 | 1.000 | 0.040 | 2 | 96254974 | missense variant | C/T | snv | 6.7E-04 | 2.6E-03 | 0.700 | 1.000 | 2 | 2010 | 2010 | |||
|
1 | 1.000 | 0.040 | 2 | 96254962 | missense variant | G/A;C;T | snv | 2.0E-05; 4.0E-06 | 0.700 | 1.000 | 2 | 2010 | 2010 | ||||
|
2 | 1.000 | 0.040 | 11 | 112086921 | stop gained | G/A | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.040 | 3 | 10146613 | missense variant | T/C | snv | 4.0E-06 | 7.0E-06 | 0.700 | 0 | ||||||
|
2 | 1.000 | 0.040 | 1 | 10365476 | missense variant | G/A | snv | 4.0E-06 | 7.0E-06 | 0.700 | 0 | ||||||
|
1 | 1.000 | 0.040 | 2 | 96265399 | 5 prime UTR variant | G/A | snv | 0.700 | 0 | ||||||||
|
3 | 0.925 | 0.040 | 2 | 96265379 | start lost | C/A;T | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.040 | 2 | 96265306 | stop gained | G/A | snv | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.040 | 2 | 96265232 | frameshift variant | -/T | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.040 | 2 | 96254832 | splice donor variant | C/A | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.040 | 2 | 96254078 | stop gained | C/T | snv | 0.700 | 0 | ||||||||
|
3 | 0.925 | 0.040 | 2 | 96254050 | stop gained | G/A | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.040 | 2 | 96253884 | frameshift variant | -/TCTGAGAGCAGCTC | delins | 4.0E-06 | 0.700 | 0 | |||||||
|
3 | 0.925 | 0.040 | 14 | 65102339 | start lost | T/C | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.040 | 1 | 17028685 | missense variant | C/G | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.040 | 1 | 17033095 | missense variant | T/G | snv | 0.700 | 0 |