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 | 0.160 | 17 | 50191463 | missense variant | C/T | snv | 0.800 | 1.000 | 16 | 1989 | 2015 | |||||
|
2 | 0.925 | 0.120 | 17 | 50188619 | missense variant | C/T | snv | 0.800 | 1.000 | 16 | 1989 | 2015 | |||||
|
3 | 0.882 | 0.120 | 7 | 94410251 | missense variant | G/A;T | snv | 0.700 | 1.000 | 15 | 1991 | 2006 | |||||
|
1 | 1.000 | 0.120 | 17 | 50188592 | missense variant | C/T | snv | 0.700 | 1.000 | 15 | 1989 | 2008 | |||||
|
8 | 0.776 | 0.240 | 17 | 50196163 | missense variant | C/T | snv | 0.800 | 1.000 | 15 | 1989 | 2008 | |||||
|
1 | 1.000 | 0.120 | 17 | 50195931 | missense variant | C/G | snv | 0.700 | 1.000 | 15 | 1989 | 2008 | |||||
|
1 | 1.000 | 0.120 | 17 | 50187095 | missense variant | C/T | snv | 0.700 | 1.000 | 15 | 1989 | 2008 | |||||
|
3 | 0.882 | 0.120 | 17 | 50186895 | missense variant | C/T | snv | 0.700 | 1.000 | 15 | 1989 | 2008 | |||||
|
1 | 1.000 | 0.120 | 7 | 94421045 | missense variant | G/A | snv | 0.700 | 1.000 | 15 | 1991 | 2006 | |||||
|
1 | 1.000 | 0.120 | 7 | 94423011 | missense variant | G/A | snv | 0.700 | 1.000 | 15 | 1991 | 2006 | |||||
|
1 | 1.000 | 0.120 | 17 | 50191840 | missense variant | C/G | snv | 0.700 | 1.000 | 1 | 2015 | 2015 | |||||
|
1 | 1.000 | 0.120 | 17 | 50191382 | splice donor variant | C/T | snv | 0.700 | 1.000 | 1 | 2015 | 2015 | |||||
|
1 | 1.000 | 0.120 | 17 | 50201444 | inframe deletion | TTGGCC/- | delins | 0.700 | 1.000 | 1 | 2015 | 2015 | |||||
|
1 | 1.000 | 0.120 | 7 | 94410492 | missense variant | G/C | snv | 0.700 | 1.000 | 1 | 2015 | 2015 | |||||
|
2 | 0.925 | 0.120 | 7 | 94426433 | missense variant | G/A | snv | 0.700 | 1.000 | 1 | 2015 | 2015 | |||||
|
2 | 0.925 | 0.120 | 7 | 94426514 | missense variant | G/A;C | snv | 0.700 | 1.000 | 1 | 2015 | 2015 | |||||
|
2 | 0.925 | 0.200 | 7 | 94426442 | missense variant | G/C | snv | 0.710 | 1.000 | 1 | 1996 | 1996 | |||||
|
2 | 0.925 | 0.120 | 6 | 81750332 | missense variant | T/C | snv | 0.010 | 1.000 | 1 | 2018 | 2018 | |||||
|
3 | 1.000 | 0.120 | 17 | 50188131 | missense variant | C/A;T | snv | 0.700 | 1.000 | 1 | 2015 | 2015 | |||||
|
2 | 0.925 | 0.120 | 17 | 50189876 | missense variant | C/A;T | snv | 0.700 | 1.000 | 1 | 2015 | 2015 | |||||
|
1 | 1.000 | 0.120 | 7 | 94425832 | missense variant | G/A;T | snv | 0.700 | 1.000 | 1 | 2015 | 2015 | |||||
|
1 | 1.000 | 0.120 | 7 | 94409778 | missense variant | G/A;T | snv | 0.700 | 1.000 | 1 | 2015 | 2015 | |||||
|
1 | 1.000 | 0.120 | 7 | 94413110 | missense variant | G/A | snv | 0.010 | 1.000 | 1 | 2003 | 2003 | |||||
|
1 | 1.000 | 0.120 | 7 | 94417797 | missense variant | G/T | snv | 0.700 | 1.000 | 1 | 2015 | 2015 | |||||
|
1 | 1.000 | 0.120 | 17 | 50187103 | missense variant | C/T | snv | 0.700 | 0 |