| 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 | 0.160 | 19 | 2251704 | missense variant | T/C | snv | 4.2E-06 | 0.700 | 1.000 | 2 | 1994 | 1996 | ||||
|
2 | 0.925 | 0.160 | 12 | 53429907 | missense variant | G/A | snv | 1.2E-05 | 7.0E-06 | 0.700 | 1.000 | 2 | 1996 | 2001 | |||
|
1 | 1.000 | 0.160 | 19 | 2249367 | missense variant | T/G | snv | 1.4E-03 | 1.7E-03 | 0.700 | 1.000 | 2 | 1994 | 1996 | |||
|
1 | 1.000 | 0.160 | 19 | 2250424 | missense variant | A/G | snv | 3.6E-05 | 6.3E-05 | 0.700 | 1.000 | 2 | 1994 | 1996 | |||
|
1 | 1.000 | 0.160 | 12 | 53424398 | missense variant | C/T | snv | 6.4E-05 | 0.700 | 1.000 | 2 | 1996 | 2001 | ||||
|
1 | 1.000 | 0.160 | 12 | 53425913 | missense variant | T/G | snv | 7.6E-05 | 7.0E-05 | 0.700 | 1.000 | 2 | 1996 | 2001 | |||
|
1 | 1.000 | 0.160 | 19 | 2249699 | missense variant | C/T | snv | 5.9E-05 | 4.9E-05 | 0.700 | 1.000 | 2 | 1994 | 1996 | |||
|
1 | 1.000 | 0.160 | 12 | 53431261 | missense variant | C/T | snv | 4.0E-06 | 7.0E-06 | 0.700 | 1.000 | 2 | 1996 | 2001 | |||
|
1 | 1.000 | 0.160 | 12 | 53430230 | missense variant | T/C | snv | 4.8E-05 | 0.700 | 1.000 | 2 | 1996 | 2001 | ||||
|
1 | 1.000 | 0.160 | 19 | 2250676 | missense variant | C/T | snv | 1.5E-05 | 2.1E-05 | 0.700 | 1.000 | 2 | 1994 | 1996 | |||
|
1 | 1.000 | 0.160 | 19 | 2250667 | stop gained | C/G;T | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.160 | 19 | 2251792 | missense variant | C/G | snv | 3.0E-05 | 4.2E-05 | 0.700 | 0 | ||||||
|
1 | 1.000 | 0.160 | 19 | 2251418 | stop gained | G/A;T | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.160 | 19 | 2251670 | stop gained | -/AGCTCAGCGTAGACCTCCGCGCC | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.160 | 12 | 53431222 | missense variant | G/C | snv | 8.0E-06 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.160 | 12 | 53423974 | missense variant | G/A | snv | 0.010 | 1.000 | 1 | 2019 | 2019 |