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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
5 | 0.827 | 0.160 | 1 | 156134911 | missense variant | G/A | snv | 0.700 | 1.000 | 13 | 2000 | 2014 | |||||
|
4 | 0.827 | 0.280 | 1 | 156137207 | missense variant | C/A;G;T | snv | 9.3E-06 | 0.800 | 1.000 | 11 | 1991 | 2014 | ||||
|
3 | 0.882 | 0.120 | 1 | 156134910 | missense variant | C/G;T | snv | 0.800 | 1.000 | 5 | 2008 | 2017 | |||||
|
1 | 0.925 | 0.120 | 1 | 156134860 | missense variant | G/A | snv | 0.800 | 1.000 | 5 | 2000 | 2017 | |||||
|
1 | 0.882 | 0.200 | 1 | 156136121 | missense variant | G/A;C;T | snv | 0.700 | 1.000 | 2 | 2012 | 2017 | |||||
|
4 | 0.882 | 0.160 | 1 | 156134458 | missense variant | G/A;T | snv | 0.700 | 1.000 | 2 | 2012 | 2017 | |||||
|
1 | 1.000 | 0.120 | 1 | 156115016 | missense variant | A/G | snv | 0.700 | 1.000 | 2 | 2012 | 2017 | |||||
|
1 | 1.000 | 0.120 | 1 | 156134507 | missense variant | C/G | snv | 0.700 | 1.000 | 2 | 2012 | 2017 | |||||
|
1 | 1.000 | 0.120 | 1 | 156134967 | missense variant | T/C | snv | 0.700 | 1.000 | 2 | 2012 | 2017 | |||||
|
1 | 1.000 | 0.120 | 1 | 156135259 | missense variant | T/C | snv | 0.700 | 1.000 | 2 | 2012 | 2017 | |||||
|
2 | 0.925 | 0.120 | 1 | 156136045 | missense variant | G/A;C | snv | 0.700 | 1.000 | 2 | 2012 | 2017 | |||||
|
2 | 0.925 | 0.120 | 1 | 156136402 | missense variant | G/A | snv | 0.700 | 1.000 | 2 | 2012 | 2017 | |||||
|
1 | 1.000 | 0.120 | 1 | 156136417 | missense variant | T/C | snv | 0.700 | 1.000 | 2 | 2012 | 2017 | |||||
|
1 | 0.882 | 0.200 | 1 | 156136939 | missense variant | T/C | snv | 0.700 | 1.000 | 2 | 2012 | 2017 | |||||
|
1 | 1.000 | 0.120 | 1 | 156135188 | missense variant | T/C | snv | 0.700 | 1.000 | 2 | 2012 | 2017 | |||||
|
1 | 1.000 | 0.120 | 1 | 156136921 | missense variant | G/T | snv | 8.0E-06 | 0.700 | 1.000 | 2 | 2012 | 2017 | ||||
|
1 | 1.000 | 0.120 | 1 | 156134455 | missense variant | GG/CC | mnv | 0.700 | 1.000 | 2 | 2012 | 2017 | |||||
|
4 | 0.827 | 0.200 | 1 | 156137666 | missense variant | C/A;G;T | snv | 0.700 | 1.000 | 2 | 2012 | 2017 | |||||
|
1 | 1.000 | 0.120 | 1 | 156134965 | missense variant | A/G | snv | 0.700 | 1.000 | 2 | 2012 | 2017 | |||||
|
1 | 1.000 | 0.120 | 1 | 156136946 | missense variant | T/C | snv | 0.700 | 1.000 | 2 | 2012 | 2017 | |||||
|
4 | 0.776 | 0.200 | 1 | 156137204 | missense variant | G/A;C | snv | 4.1E-05 | 0.800 | 1.000 | 2 | 2012 | 2017 | ||||
|
1 | 1.000 | 0.120 | 1 | 156115106 | missense variant | T/A;C;G | snv | 0.700 | 1.000 | 2 | 2012 | 2017 | |||||
|
3 | 0.851 | 0.160 | 1 | 156115034 | missense variant | A/G | snv | 0.700 | 1.000 | 2 | 2012 | 2017 | |||||
|
1 | 0.925 | 0.200 | 1 | 156134908 | missense variant | T/C | snv | 0.700 | 1.000 | 2 | 2012 | 2017 | |||||
|
2 | 1.000 | 0.120 | 1 | 156130708 | missense variant | A/C;G | snv | 0.700 | 1.000 | 2 | 2012 | 2017 |