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 | 0.120 | 6 | 52071009 | missense variant | T/C;G | snv | 1.0E-04 | 0.800 | 1.000 | 14 | 2002 | 2015 | ||||
|
1 | 1.000 | 0.120 | 6 | 51959953 | missense variant | T/C | snv | 0.800 | 1.000 | 13 | 2002 | 2015 | |||||
|
1 | 1.000 | 0.120 | 6 | 51903601 | missense variant | A/G;T | snv | 4.0E-06; 4.6E-04 | 0.800 | 1.000 | 13 | 2002 | 2016 | ||||
|
1 | 1.000 | 0.120 | 6 | 52017497 | missense variant | T/C | snv | 1.6E-05 | 0.800 | 1.000 | 12 | 2002 | 2015 | ||||
|
1 | 1.000 | 0.120 | 6 | 51748246 | missense variant | G/A | snv | 0.800 | 1.000 | 11 | 2002 | 2016 | |||||
|
1 | 1.000 | 0.120 | 6 | 52025059 | missense variant | C/A;G;T | snv | 4.0E-06; 4.0E-06 | 0.700 | 1.000 | 10 | 2002 | 2015 | ||||
|
1 | 1.000 | 0.120 | 6 | 51934238 | missense variant | A/G | snv | 4.0E-06 | 0.700 | 1.000 | 10 | 2002 | 2015 | ||||
|
1 | 1.000 | 0.120 | 6 | 52065011 | missense variant | A/G | snv | 4.0E-06 | 0.700 | 1.000 | 10 | 2002 | 2015 | ||||
|
1 | 1.000 | 0.120 | 6 | 51748563 | missense variant | G/A | snv | 0.800 | 1.000 | 10 | 2002 | 2015 | |||||
|
1 | 1.000 | 0.120 | 6 | 51934247 | missense variant | T/C | snv | 0.700 | 1.000 | 10 | 2002 | 2015 | |||||
|
1 | 1.000 | 0.120 | 6 | 51659621 | missense variant | T/A | snv | 0.700 | 1.000 | 10 | 2002 | 2015 | |||||
|
1 | 1.000 | 0.120 | 6 | 52022839 | missense variant | G/A | snv | 0.700 | 1.000 | 10 | 2002 | 2015 | |||||
|
1 | 1.000 | 0.120 | 6 | 51753266 | missense variant | T/C | snv | 0.700 | 1.000 | 10 | 2002 | 2015 | |||||
|
1 | 1.000 | 0.120 | 6 | 51791283 | missense variant | A/C | snv | 0.700 | 1.000 | 10 | 2002 | 2015 | |||||
|
1 | 1.000 | 0.120 | 6 | 51830882 | missense variant | C/A | snv | 0.700 | 1.000 | 10 | 2002 | 2015 | |||||
|
1 | 1.000 | 0.120 | 6 | 51883179 | missense variant | A/C;G | snv | 5.0E-04; 2.4E-05 | 0.700 | 1.000 | 10 | 2002 | 2015 | ||||
|
1 | 1.000 | 0.120 | 6 | 52024819 | missense variant | G/A | snv | 0.800 | 1.000 | 10 | 2002 | 2015 | |||||
|
1 | 1.000 | 0.120 | 6 | 52050167 | missense variant | T/C;G | snv | 3.6E-05; 1.2E-05 | 0.700 | 1.000 | 10 | 2002 | 2015 | ||||
|
1 | 1.000 | 0.120 | 6 | 52025353 | missense variant | G/A | snv | 4.0E-06 | 0.700 | 1.000 | 9 | 2002 | 2015 | ||||
|
1 | 1.000 | 0.120 | 6 | 51748470 | missense variant | T/C | snv | 1.2E-05 | 0.700 | 1.000 | 9 | 2002 | 2015 | ||||
|
1 | 1.000 | 0.120 | 6 | 52082399 | missense variant | G/A;T | snv | 1.2E-05; 4.0E-06 | 0.700 | 1.000 | 9 | 2002 | 2015 | ||||
|
1 | 1.000 | 0.120 | 6 | 52026048 | frameshift variant | GG/C | delins | 0.700 | 1.000 | 9 | 2002 | 2016 | |||||
|
1 | 1.000 | 0.120 | 6 | 52084884 | missense variant | G/A | snv | 0.700 | 1.000 | 9 | 2002 | 2015 | |||||
|
1 | 1.000 | 0.120 | 6 | 51909295 | missense variant | C/G;T | snv | 4.0E-06; 4.0E-06 | 0.700 | 1.000 | 9 | 2002 | 2015 | ||||
|
1 | 1.000 | 0.120 | 6 | 51934206 | missense variant | C/T | snv | 4.0E-06 | 0.700 | 1.000 | 9 | 2002 | 2015 |