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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
3 | 0.882 | 0.120 | 2 | 232379613 | missense variant | C/T | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2005 | 2005 | ||||
|
3 | 0.882 | 0.080 | 1 | 21577544 | missense variant | G/A | snv | 8.3E-06 | 2.1E-05 | 0.800 | 0 | ||||||
|
1 | 1.000 | 0.080 | 1 | 21577475 | missense variant | G/A | snv | 7.0E-06 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.080 | 1 | 21577427 | missense variant | G/A | snv | 7.0E-06 | 0.700 | 0 | |||||||
|
2 | 0.925 | 0.080 | 1 | 21577422 | missense variant | G/A | snv | 7.7E-05 | 7.0E-06 | 0.700 | 1.000 | 20 | 1992 | 2013 | |||
|
4 | 0.851 | 0.120 | 1 | 21577421 | missense variant | C/G;T | snv | 1.6E-05 | 3.5E-05 | 0.700 | 0 | ||||||
|
1 | 1.000 | 0.080 | 1 | 21577406 | missense variant | T/C | snv | 0.700 | 1.000 | 20 | 1992 | 2013 | |||||
|
2 | 0.925 | 0.080 | 1 | 21576638 | missense variant | T/C | snv | 0.700 | 1.000 | 20 | 1992 | 2013 | |||||
|
5 | 0.827 | 0.120 | 1 | 21576582 | missense variant | A/G | snv | 2.0E-05 | 5.6E-05 | 0.700 | 1.000 | 20 | 1992 | 2013 | |||
|
2 | 0.925 | 0.080 | 1 | 21575907 | missense variant | G/A | snv | 8.0E-06 | 7.0E-06 | 0.700 | 1.000 | 20 | 1992 | 2013 | |||
|
3 | 0.882 | 0.080 | 1 | 21575906 | missense variant | C/T | snv | 1.2E-05 | 1.4E-05 | 0.700 | 0 | ||||||
|
3 | 0.882 | 0.080 | 1 | 21575879 | missense variant | G/A | snv | 4.0E-06 | 0.700 | 0 | |||||||
|
4 | 0.851 | 0.080 | 1 | 21575868 | missense variant | A/T | snv | 4.0E-06 | 7.0E-06 | 0.800 | 1.000 | 20 | 1992 | 2013 | |||
|
1 | 1.000 | 0.080 | 1 | 21575797 | missense variant | G/C | snv | 0.700 | 1.000 | 20 | 1992 | 2013 | |||||
|
1 | 1.000 | 0.080 | 1 | 21575777 | missense variant | G/A | snv | 0.700 | 1.000 | 20 | 1992 | 2013 | |||||
|
4 | 0.851 | 0.080 | 1 | 21575736 | missense variant | G/A | snv | 0.800 | 1.000 | 20 | 1992 | 2013 | |||||
|
5 | 0.827 | 0.200 | 1 | 21573781 | missense variant | T/C | snv | 7.2E-05 | 4.2E-05 | 0.800 | 1.000 | 21 | 1992 | 2013 | |||
|
1 | 1.000 | 0.080 | 1 | 21573733 | missense variant | G/A | snv | 7.0E-06 | 0.700 | 1.000 | 20 | 1992 | 2013 | ||||
|
1 | 1.000 | 0.080 | 1 | 21573686 | missense variant | T/C | snv | 8.0E-06 | 7.0E-06 | 0.700 | 1.000 | 20 | 1992 | 2013 | |||
|
4 | 0.851 | 0.080 | 1 | 21573683 | missense variant | A/C | snv | 3.6E-05 | 7.0E-05 | 0.800 | 1.000 | 20 | 1992 | 2013 | |||
|
1 | 1.000 | 0.080 | 1 | 21573682 | missense variant | G/T | snv | 0.700 | 1.000 | 20 | 1992 | 2013 | |||||
|
1 | 1.000 | 0.080 | 1 | 21573676 | missense variant | C/A;T | snv | 8.0E-06; 4.0E-06 | 0.700 | 1.000 | 20 | 1992 | 2013 | ||||
|
4 | 0.925 | 0.080 | 1 | 21573673 | missense variant | G/A | snv | 0.700 | 1.000 | 20 | 1992 | 2013 | |||||
|
3 | 0.882 | 0.080 | 1 | 21570327 | missense variant | G/A;C;T | snv | 8.0E-06; 4.0E-06; 8.0E-06 | 0.700 | 1.000 | 20 | 1992 | 2013 | ||||
|
1 | 1.000 | 0.080 | 1 | 21570314 | missense variant | T/C | snv | 4.0E-06 | 7.0E-06 | 0.010 | 1.000 | 1 | 2001 | 2001 |