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 | 0.790 | 0.120 | 20 | 63439609 | missense variant | C/G;T | snv | 0.710 | 1.000 | 9 | 1993 | 2016 | |||||
|
3 | 0.925 | 0.040 | 20 | 63415086 | stop gained | G/A;T | snv | 4.2E-06 | 0.700 | 1.000 | 6 | 1984 | 2015 | ||||
|
1 | 20 | 63444765 | missense variant | G/A | snv | 0.700 | 1.000 | 5 | 2007 | 2015 | |||||||
|
2 | 1.000 | 20 | 63406659 | frameshift variant | -/GCCCA | delins | 0.700 | 1.000 | 3 | 2003 | 2014 | ||||||
|
3 | 0.925 | 20 | 63413526 | missense variant | C/A;T | snv | 0.700 | 1.000 | 3 | 2013 | 2015 | ||||||
|
3 | 0.925 | 20 | 63442428 | missense variant | G/A | snv | 0.700 | 1.000 | 2 | 2012 | 2015 | ||||||
|
2 | 20 | 63442529 | missense variant | C/A;G | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||||
|
6 | 0.925 | 0.040 | 20 | 63439610 | inframe deletion | AAG/- | delins | 0.700 | 0 | ||||||||
|
3 | 1.000 | 0.040 | 20 | 63438654 | missense variant | T/C | snv | 0.700 | 0 | ||||||||
|
5 | 1.000 | 20 | 63438654 | inframe insertion | -/TCAAAGTGCTTCTGCCTGTGCTGCTCCTGAACCTTC | delins | 0.700 | 0 | |||||||||
|
1 | 20 | 63439686 | missense variant | T/C | snv | 0.700 | 0 | ||||||||||
|
4 | 0.925 | 20 | 63439656 | missense variant | C/A;T | snv | 0.700 | 0 | |||||||||
|
2 | 0.925 | 0.080 | 20 | 63414092 | missense variant | C/T | snv | 4.0E-06 | 7.0E-06 | 0.700 | 0 | ||||||
|
3 | 0.925 | 0.040 | 20 | 63442429 | missense variant | C/G;T | snv | 0.700 | 0 | ||||||||
|
1 | 20 | 63442521 | missense variant | G/A | snv | 0.700 | 0 | ||||||||||
|
3 | 0.925 | 0.040 | 20 | 63424195 | frameshift variant | G/-;GG | delins | 0.700 | 0 |