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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
15 | 0.708 | 0.400 | 12 | 47983721 | stop gained | G/A;T | snv | 0.700 | 0 | ||||||||
|
14 | 0.716 | 0.400 | 12 | 47999953 | stop gained | G/T | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | 12 | 47979519 | missense variant | C/A | snv | 0.800 | 1.000 | 2 | 1995 | 2005 | |||||
|
4 | 0.882 | 0.080 | 12 | 47986353 | missense variant | C/A;T | snv | 0.800 | 1.000 | 2 | 1995 | 2005 | |||||
|
1 | 1.000 | 0.080 | 12 | 47986388 | missense variant | C/A | snv | 0.800 | 1.000 | 2 | 1995 | 2005 | |||||
|
1 | 1.000 | 0.080 | 12 | 47978320 | missense variant | T/C | snv | 0.800 | 1.000 | 2 | 1995 | 2005 | |||||
|
2 | 0.925 | 0.080 | 6 | 116120332 | missense variant | C/T | snv | 0.010 | 1.000 | 1 | 1998 | 1998 | |||||
|
1 | 1.000 | 0.080 | 2 | 215428331 | missense variant | G/C | snv | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.160 | 2 | 215430725 | missense variant | G/A;C | snv | 1.2E-05 | 7.0E-06 | 0.700 | 0 | ||||||
|
1 | 1.000 | 0.080 | 12 | 47989769 | missense variant | C/T | snv | 0.700 | 0 | ||||||||
|
14 | 0.716 | 0.400 | 12 | 47978329 | missense variant | G/A | snv | 0.700 | 0 | ||||||||
|
20 | 0.763 | 0.280 | 15 | 82240555 | missense variant | T/C | snv | 8.2E-06 | 0.700 | 0 | |||||||
|
2 | 0.925 | 0.160 | 2 | 215428246 | missense variant | A/C | snv | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.160 | 2 | 215428306 | missense variant | A/C | snv | 0.700 | 0 | ||||||||
|
3 | 0.882 | 0.200 | 2 | 215433372 | missense variant | A/G | snv | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.160 | 2 | 215434713 | missense variant | C/A | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | 2 | 215430762 | missense variant | C/T | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | 2 | 215431874 | missense variant | C/T | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | 2 | 215433371 | missense variant | C/T | snv | 0.700 | 0 |