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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
6 | 0.827 | 0.040 | 16 | 50710812 | missense variant | G/A;T | snv | 4.0E-06; 4.0E-06 | 0.100 | 1.000 | 13 | 2007 | 2019 | ||||
|
5 | 0.882 | 0.040 | 16 | 50722970 | intron variant | A/G | snv | 0.17 | 0.830 | 1.000 | 9 | 2007 | 2019 | ||||
|
1 | 1.000 | 0.040 | 16 | 50710966 | missense variant | A/G | snv | 9.6E-04 | 3.8E-03 | 0.710 | 1.000 | 7 | 2001 | 2018 | |||
|
2 | 1.000 | 0.040 | 16 | 50712018 | missense variant | C/G;T | snv | 1.2E-05; 3.2E-03 | 0.710 | 1.000 | 7 | 2001 | 2016 | ||||
|
1 | 1.000 | 0.040 | 16 | 50699883 | missense variant | T/C | snv | 1.3E-04 | 5.6E-05 | 0.700 | 1.000 | 6 | 2001 | 2016 | |||
|
1 | 1.000 | 0.040 | 16 | 50710614 | missense variant | C/T | snv | 1.0E-04 | 1.3E-04 | 0.700 | 1.000 | 6 | 2001 | 2016 | |||
|
1 | 1.000 | 0.040 | 16 | 50710654 | missense variant | T/G | snv | 5.6E-04 | 2.6E-04 | 0.700 | 1.000 | 6 | 2001 | 2016 | |||
|
1 | 1.000 | 0.040 | 16 | 50710782 | missense variant | G/A | snv | 8.0E-06 | 2.1E-05 | 0.700 | 1.000 | 6 | 2001 | 2016 | |||
|
1 | 1.000 | 0.040 | 16 | 50710792 | missense variant | C/G | snv | 1.9E-03 | 1.5E-03 | 0.700 | 1.000 | 6 | 2001 | 2016 | |||
|
1 | 1.000 | 0.040 | 16 | 50710813 | missense variant | C/T | snv | 4.4E-05 | 4.2E-05 | 0.700 | 1.000 | 6 | 2001 | 2016 | |||
|
1 | 1.000 | 0.040 | 16 | 50710842 | missense variant | C/A;T | snv | 5.9E-04 | 0.700 | 1.000 | 6 | 2001 | 2016 | ||||
|
1 | 1.000 | 0.040 | 16 | 50711028 | missense variant | C/T | snv | 1.8E-04 | 2.1E-04 | 0.700 | 1.000 | 6 | 2001 | 2016 | |||
|
1 | 1.000 | 0.040 | 16 | 50711206 | missense variant | C/T | snv | 1.6E-04 | 2.3E-04 | 0.700 | 1.000 | 6 | 2001 | 2016 | |||
|
1 | 1.000 | 0.040 | 16 | 50711961 | missense variant | C/G;T | snv | 4.1E-04 | 0.700 | 1.000 | 6 | 2001 | 2016 | ||||
|
1 | 1.000 | 0.040 | 16 | 50712175 | missense variant | C/T | snv | 2.5E-03 | 3.0E-03 | 0.700 | 1.000 | 6 | 2001 | 2016 | |||
|
2 | 0.925 | 0.040 | 5 | 150860514 | intron variant | C/T | snv | 0.13 | 0.840 | 1.000 | 5 | 2007 | 2015 | ||||
|
3 | 0.925 | 0.040 | 10 | 99524480 | upstream gene variant | T/A;G | snv | 0.820 | 1.000 | 5 | 2010 | 2019 | |||||
|
3 | 0.882 | 0.040 | 9 | 114818634 | intergenic variant | C/G;T | snv | 0.830 | 1.000 | 5 | 2005 | 2015 | |||||
|
3 | 0.925 | 0.040 | 10 | 62685804 | intron variant | A/G | snv | 0.43 | 0.810 | 1.000 | 4 | 2010 | 2017 | ||||
|
3 | 0.925 | 0.040 | 5 | 40410482 | upstream gene variant | T/C;G | snv | 0.800 | 1.000 | 4 | 2010 | 2017 | |||||
|
3 | 0.925 | 0.040 | 16 | 50711664 | synonymous variant | C/T | snv | 4.0E-06 | 1.4E-05 | 0.040 | 1.000 | 4 | 2005 | 2008 | |||
|
3 | 0.925 | 0.040 | 3 | 49664550 | synonymous variant | G/A | snv | 0.26 | 0.27 | 0.810 | 1.000 | 4 | 2007 | 2010 | |||
|
2 | 1.000 | 0.040 | 10 | 30439172 | synonymous variant | T/C | snv | 0.51 | 0.45 | 0.710 | 1.000 | 3 | 2015 | 2017 | |||
|
2 | 1.000 | 0.040 | 2 | 43579779 | intron variant | C/T | snv | 0.13 | 0.800 | 1.000 | 3 | 2010 | 2017 | ||||
|
1 | 1.000 | 0.040 | 1 | 206772393 | missense variant | C/T | snv | 1.9E-03 | 1.8E-03 | 0.030 | 0.667 | 3 | 2000 | 2005 |