| 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 | 0.080 | 1 | 94047009 | missense variant | C/A;T | snv | 2.8E-05; 3.0E-02 | 0.010 | 1.000 | 1 | 2008 | 2008 | ||||
|
1 | 1.000 | 6 | 79947515 | 5 prime UTR variant | G/A;C | snv | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||||
|
1 | 1.000 | 6 | 79947369 | 5 prime UTR variant | C/G;T | snv | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||||
|
2 | 1.000 | 6 | 38791670 | missense variant | A/G | snv | 1.2E-05 | 1.4E-05 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
1 | 1.000 | 1 | 94080709 | missense variant | G/A | snv | 2.0E-05 | 1.4E-05 | 0.010 | 1.000 | 1 | 2007 | 2007 | ||||
|
1 | 1.000 | 1 | 94047010 | missense variant | G/A;C | snv | 8.0E-05 | 0.700 | 1.000 | 20 | 1997 | 2014 | |||||
|
1 | 1.000 | 1 | 94014665 | missense variant | G/A;C | snv | 1.1E-04 | 0.700 | 1.000 | 19 | 1997 | 2014 | |||||
|
1 | 1.000 | 1 | 94103015 | missense variant | C/G | snv | 0.700 | 1.000 | 19 | 1997 | 2014 | ||||||
|
1 | 1.000 | 1 | 94044743 | missense variant | A/C;G | snv | 4.0E-06 | 0.700 | 1.000 | 19 | 1997 | 2014 | |||||
|
1 | 1.000 | 1 | 94029446 | missense variant | T/C | snv | 2.1E-05 | 0.700 | 1.000 | 19 | 1997 | 2014 | |||||
|
1 | 1.000 | 1 | 94000836 | missense variant | T/C | snv | 0.700 | 1.000 | 19 | 1997 | 2014 | ||||||
|
1 | 1.000 | 1 | 93996137 | missense variant | C/A;G;T | snv | 4.0E-06; 2.4E-05 | 0.700 | 1.000 | 19 | 1997 | 2014 | |||||
|
1 | 1.000 | 1 | 93997869 | missense variant | G/A;C | snv | 4.0E-06; 1.1E-04 | 0.700 | 1.000 | 19 | 1997 | 2014 | |||||
|
1 | 1.000 | 1 | 94111566 | missense variant | G/C | snv | 0.700 | 1.000 | 19 | 1997 | 2014 | ||||||
|
1 | 1.000 | 1 | 94111510 | missense variant | A/G;T | snv | 0.700 | 1.000 | 19 | 1997 | 2014 | ||||||
|
1 | 1.000 | 1 | 94111454 | missense variant | T/C;G | snv | 8.0E-06; 4.0E-06 | 0.700 | 1.000 | 19 | 1997 | 2014 | |||||
|
1 | 1.000 | 1 | 94111442 | missense variant | A/G | snv | 1.4E-05 | 0.700 | 1.000 | 19 | 1997 | 2014 | |||||
|
1 | 1.000 | 1 | 94098988 | missense variant | C/T | snv | 4.3E-04 | 1.5E-03 | 0.700 | 1.000 | 19 | 1997 | 2014 | ||||
|
1 | 1.000 | 1 | 94098944 | missense variant | G/A;C | snv | 6.6E-04; 1.1E-03 | 0.700 | 1.000 | 19 | 1997 | 2014 | |||||
|
2 | 1.000 | 1 | 94098904 | missense variant | G/A | snv | 8.0E-06 | 1.4E-05 | 0.700 | 1.000 | 19 | 1997 | 2014 | ||||
|
1 | 1.000 | 1 | 94080678 | missense variant | G/T | snv | 0.700 | 1.000 | 19 | 1997 | 2014 | ||||||
|
2 | 0.925 | 0.040 | 1 | 94080651 | missense variant | G/C | snv | 1.0E-04 | 3.8E-04 | 0.700 | 1.000 | 19 | 1997 | 2014 | |||
|
1 | 1.000 | 1 | 94080580 | missense variant | G/A | snv | 8.0E-06 | 7.0E-06 | 0.700 | 1.000 | 19 | 1997 | 2014 | ||||
|
1 | 1.000 | 1 | 94080570 | missense variant | G/C | snv | 2.0E-05 | 0.700 | 1.000 | 19 | 1997 | 2014 | |||||
|
1 | 1.000 | 1 | 94079421 | missense variant | A/T | snv | 5.5E-04 | 6.5E-04 | 0.700 | 1.000 | 19 | 1997 | 2014 |