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 | 0.160 | 2 | 71551073 | missense variant | G/A | snv | 7.0E-06 | 0.710 | 1.000 | 15 | 1998 | 2009 | ||||
|
4 | 0.851 | 0.160 | 2 | 71682597 | missense variant | C/T | snv | 3.2E-05 | 2.1E-05 | 0.700 | 1.000 | 16 | 1998 | 2014 | |||
|
4 | 0.851 | 0.160 | 2 | 71564074 | missense variant | C/A;G;T | snv | 0.700 | 1.000 | 16 | 1998 | 2014 | |||||
|
3 | 0.882 | 0.160 | 2 | 71481934 | missense variant | TG/AT | mnv | 0.700 | 1.000 | 16 | 1998 | 2014 | |||||
|
4 | 0.851 | 0.160 | 2 | 71570704 | missense variant | G/A | snv | 2.0E-05 | 6.3E-05 | 0.700 | 1.000 | 16 | 1998 | 2014 | |||
|
3 | 0.882 | 0.160 | 2 | 71517028 | missense variant | G/A;C;T | snv | 4.0E-06 | 0.700 | 1.000 | 16 | 1998 | 2014 | ||||
|
3 | 0.827 | 0.160 | 2 | 71570300 | missense variant | G/T | snv | 1.2E-05 | 0.700 | 1.000 | 16 | 1998 | 2014 | ||||
|
2 | 0.925 | 0.160 | 2 | 71602794 | missense variant | A/G | snv | 4.6E-03 | 4.7E-03 | 0.700 | 1.000 | 15 | 1998 | 2009 | |||
|
1 | 1.000 | 0.160 | 2 | 71570688 | missense variant | C/T | snv | 1.7E-04 | 1.3E-04 | 0.700 | 1.000 | 15 | 1998 | 2009 | |||
|
1 | 1.000 | 0.160 | 2 | 71682676 | missense variant | C/T | snv | 1.0E-04 | 1.2E-04 | 0.700 | 1.000 | 15 | 1998 | 2009 | |||
|
1 | 1.000 | 0.160 | 2 | 71526286 | missense variant | G/A;C | snv | 1.6E-05; 5.5E-03 | 0.700 | 1.000 | 15 | 1998 | 2009 | ||||
|
1 | 1.000 | 0.160 | 2 | 71669649 | missense variant | A/G;T | snv | 4.0E-06 | 7.0E-06 | 0.700 | 1.000 | 15 | 1998 | 2009 | |||
|
2 | 0.925 | 0.160 | 2 | 71553110 | missense variant | G/A;C | snv | 8.0E-06 | 0.700 | 1.000 | 15 | 1998 | 2009 | ||||
|
2 | 0.925 | 0.160 | 2 | 71513767 | missense variant | C/A;T | snv | 1.0E-02; 6.0E-05 | 0.700 | 1.000 | 15 | 1998 | 2009 | ||||
|
2 | 0.925 | 0.160 | 2 | 71669191 | missense variant | G/A | snv | 1.2E-05 | 7.0E-06 | 0.700 | 1.000 | 15 | 1998 | 2009 | |||
|
1 | 1.000 | 0.160 | 2 | 71611540 | missense variant | T/C | snv | 8.0E-06 | 0.700 | 1.000 | 15 | 1998 | 2009 | ||||
|
1 | 1.000 | 0.160 | 2 | 71681053 | missense variant | G/A | snv | 2.9E-04 | 1.9E-04 | 0.700 | 0 | ||||||
|
1 | 1.000 | 0.160 | 2 | 71517029 | missense variant | G/A | snv | 7.0E-06 | 0.700 | 0 | |||||||
|
5 | 0.827 | 0.160 | 2 | 71569884 | missense variant | C/T | snv | 4.0E-05 | 2.1E-05 | 0.700 | 0 | ||||||
|
2 | 0.882 | 0.160 | 2 | 71551631 | missense variant | C/T | snv | 2.9E-05 | 1.4E-05 | 0.700 | 0 | ||||||
|
2 | 0.925 | 0.160 | 2 | 71611344 | missense variant | G/A | snv | 1.6E-05 | 1.4E-05 | 0.700 | 0 | ||||||
|
2 | 0.925 | 0.160 | 2 | 71665182 | missense variant | G/A | snv | 8.0E-06 | 0.700 | 0 | |||||||
|
3 | 0.882 | 0.160 | 2 | 71665181 | missense variant | C/G;T | snv | 4.0E-06 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.160 | 2 | 71528393 | missense variant | G/A | snv | 0.700 | 0 |