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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
3 | 0.882 | 0.160 | 7 | 94419499 | missense variant | G/A;C;T | snv | 4.0E-06 | 1.4E-05 | 0.700 | 1.000 | 10 | 1988 | 2006 | |||
|
1 | 1.000 | 7 | 94409582 | missense variant | G/A | snv | 0.010 | 1.000 | 1 | 2000 | 2000 | ||||||
|
2 | 0.925 | 0.080 | 7 | 94410501 | missense variant | G/A;T | snv | 0.700 | 1.000 | 1 | 2015 | 2015 | |||||
|
1 | 1.000 | 7 | 94409323 | missense variant | G/A | snv | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||||
|
1 | 1.000 | 7 | 94412585 | missense variant | G/C | snv | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||||
|
3 | 0.882 | 0.120 | 7 | 94425664 | splice donor variant | G/A | snv | 0.700 | 1.000 | 1 | 2015 | 2015 | |||||
|
9 | 0.763 | 0.240 | 7 | 94426459 | missense variant | G/A;C | snv | 0.700 | 1.000 | 1 | 2015 | 2015 | |||||
|
3 | 0.882 | 0.120 | 7 | 94427008 | missense variant | G/C;T | snv | 0.700 | 1.000 | 1 | 2015 | 2015 | |||||
|
1 | 1.000 | 7 | 94408187 | missense variant | C/T | snv | 4.0E-06 | 3.5E-05 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
3 | 0.882 | 0.120 | 7 | 94409403 | missense variant | G/A;C | snv | 0.700 | 1.000 | 1 | 2015 | 2015 | |||||
|
2 | 0.925 | 0.120 | 7 | 94426514 | missense variant | G/A;C | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 7 | 94417796 | missense variant | G/T | snv | 0.700 | 0 | |||||||||
|
2 | 0.925 | 0.120 | 7 | 94415263 | missense variant | G/T | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 7 | 94410466 | missense variant | G/A;C | snv | 0.700 | 0 | |||||||||
|
9 | 0.763 | 0.240 | 7 | 94409768 | missense variant | G/A;T | snv | 0.700 | 0 | ||||||||
|
3 | 0.882 | 0.120 | 7 | 94408798 | missense variant | G/A;T | snv | 0.700 | 0 | ||||||||
|
8 | 0.776 | 0.240 | 7 | 94410457 | missense variant | G/A;T | snv | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.120 | 7 | 94427663 | missense variant | G/A;C;T | snv | 0.700 | 0 | ||||||||
|
3 | 0.882 | 0.120 | 7 | 94406286 | missense variant | G/A | snv | 4.0E-06 | 0.700 | 0 | |||||||
|
1 | 1.000 | 7 | 94407856 | missense variant | G/C | snv | 0.700 | 0 | |||||||||
|
1 | 1.000 | 7 | 94409760 | missense variant | G/A | snv | 0.700 | 0 | |||||||||
|
1 | 1.000 | 7 | 94417761 | missense variant | G/T | snv | 0.700 | 0 | |||||||||
|
3 | 0.882 | 0.120 | 7 | 94420604 | missense variant | G/A | snv | 4.1E-06 | 0.700 | 0 | |||||||
|
3 | 0.882 | 0.120 | 7 | 94420613 | missense variant | G/T | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 7 | 94421010 | missense variant | G/T | snv | 0.700 | 0 |