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 | 0.120 | 16 | 88840999 | missense variant | C/T | snv | 8.0E-06 | 3.5E-05 | 0.800 | 1.000 | 15 | 1992 | 2014 | |||
|
1 | 1.000 | 0.120 | 16 | 88856771 | missense variant | A/C | snv | 2.6E-05 | 0.800 | 1.000 | 13 | 1992 | 2014 | ||||
|
2 | 0.925 | 0.120 | 16 | 88841948 | missense variant | G/A | snv | 4.0E-06 | 7.0E-06 | 0.800 | 1.000 | 12 | 1992 | 2014 | |||
|
1 | 1.000 | 0.120 | 16 | 88826822 | missense variant | C/T | snv | 0.800 | 1.000 | 12 | 1992 | 2014 | |||||
|
1 | 1.000 | 0.120 | 16 | 88824790 | missense variant | T/G | snv | 8.0E-06 | 7.0E-06 | 0.800 | 1.000 | 12 | 1992 | 2014 | |||
|
1 | 1.000 | 0.120 | 16 | 88835251 | missense variant | G/A | snv | 1.7E-05 | 7.0E-06 | 0.800 | 1.000 | 12 | 1992 | 2014 | |||
|
1 | 1.000 | 0.120 | 16 | 88842769 | missense variant | G/A | snv | 4.0E-05 | 4.2E-05 | 0.710 | 1.000 | 12 | 1992 | 2019 | |||
|
2 | 0.882 | 0.120 | 16 | 88841077 | missense variant | T/A | snv | 4.0E-05 | 7.7E-05 | 0.710 | 1.000 | 7 | 1995 | 2014 | |||
|
1 | 1.000 | 0.120 | 16 | 88837740 | missense variant | G/A | snv | 4.0E-06 | 0.700 | 1.000 | 12 | 1992 | 2014 | ||||
|
1 | 1.000 | 0.120 | 16 | 88818039 | missense variant | G/A | snv | 0.700 | 1.000 | 12 | 1992 | 2014 | |||||
|
1 | 1.000 | 0.120 | 16 | 88842711 | missense variant | G/A | snv | 4.0E-06 | 0.700 | 1.000 | 12 | 1992 | 2014 | ||||
|
1 | 1.000 | 0.120 | 16 | 88824852 | missense variant | C/T | snv | 2.1E-05 | 0.700 | 1.000 | 12 | 1992 | 2014 | ||||
|
1 | 1.000 | 0.120 | 16 | 88842829 | missense variant | T/A | snv | 1.2E-05 | 7.0E-06 | 0.700 | 1.000 | 12 | 1992 | 2014 | |||
|
1 | 1.000 | 0.120 | 16 | 88842799 | missense variant | C/T | snv | 4.0E-06 | 0.700 | 1.000 | 12 | 1992 | 2014 | ||||
|
1 | 1.000 | 0.120 | 16 | 88814510 | missense variant | C/T | snv | 7.0E-06 | 0.700 | 1.000 | 12 | 1992 | 2014 | ||||
|
1 | 1.000 | 0.120 | 16 | 88818009 | missense variant | T/A;C | snv | 0.700 | 1.000 | 12 | 1992 | 2014 | |||||
|
1 | 1.000 | 0.120 | 16 | 88841965 | missense variant | G/A;T | snv | 8.2E-06 | 0.700 | 1.000 | 12 | 1992 | 2014 | ||||
|
1 | 1.000 | 0.120 | 16 | 88822706 | missense variant | A/G | snv | 9.2E-04 | 9.2E-04 | 0.700 | 1.000 | 12 | 1992 | 2014 | |||
|
1 | 1.000 | 0.120 | 16 | 88841068 | missense variant | C/T | snv | 8.0E-06 | 7.0E-06 | 0.700 | 1.000 | 12 | 1992 | 2014 | |||
|
1 | 1.000 | 0.120 | 16 | 88826714 | missense variant | C/T | snv | 1.8E-03 | 1.7E-03 | 0.700 | 1.000 | 12 | 1992 | 2014 | |||
|
1 | 1.000 | 0.120 | 16 | 88824869 | missense variant | C/G | snv | 0.700 | 1.000 | 12 | 1992 | 2014 | |||||
|
1 | 1.000 | 0.120 | 16 | 88824847 | missense variant | C/G;T | snv | 8.0E-06 | 1.4E-05 | 0.700 | 1.000 | 12 | 1992 | 2014 | |||
|
1 | 1.000 | 0.120 | 16 | 88824834 | missense variant | G/A | snv | 2.8E-05 | 7.0E-06 | 0.700 | 1.000 | 12 | 1992 | 2014 | |||
|
1 | 1.000 | 0.120 | 16 | 88822599 | missense variant | A/T | snv | 0.700 | 1.000 | 12 | 1992 | 2014 | |||||
|
1 | 1.000 | 0.120 | 16 | 88814488 | missense variant | C/A | snv | 1.4E-05 | 0.700 | 1.000 | 12 | 1992 | 2014 |