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 | 0.080 | 19 | 18785772 | missense variant | G/C;T | snv | 0.800 | 1.000 | 9 | 1995 | 2012 | |||||
|
3 | 0.882 | 0.080 | 19 | 18783129 | missense variant | G/A;T | snv | 8.6E-04 | 0.800 | 1.000 | 9 | 1995 | 2012 | ||||
|
1 | 1.000 | 0.080 | 19 | 18787514 | missense variant | C/T | snv | 0.700 | 1.000 | 9 | 1995 | 2012 | |||||
|
2 | 0.925 | 0.080 | 19 | 18787602 | missense variant | C/A | snv | 0.700 | 1.000 | 9 | 1995 | 2012 | |||||
|
1 | 1.000 | 0.080 | 19 | 18783128 | missense variant | C/G;T | snv | 1.2E-05 | 0.700 | 1.000 | 9 | 1995 | 2012 | ||||
|
1 | 1.000 | 0.080 | 19 | 18785839 | missense variant | C/T | snv | 0.700 | 1.000 | 9 | 1995 | 2012 | |||||
|
1 | 1.000 | 0.080 | 19 | 18789188 | missense variant | C/T | snv | 9.7E-06 | 0.700 | 1.000 | 9 | 1995 | 2012 | ||||
|
1 | 1.000 | 0.080 | 19 | 18786281 | missense variant | T/G | snv | 0.700 | 1.000 | 3 | 1995 | 2016 | |||||
|
1 | 1.000 | 0.080 | 19 | 18788450 | missense variant | G/C | snv | 4.2E-06 | 0.700 | 0 | |||||||
|
2 | 0.925 | 0.080 | 19 | 18787500 | missense variant | C/A | snv | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.080 | 19 | 18786035 | inframe insertion | TCG/-;TCGTCG;TCGTCGTCG | delins | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.080 | 19 | 18786096 | missense variant | T/C | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | 19 | 18783057 | frameshift variant | -/G | delins | 0.700 | 0 |