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 | 0.120 | 19 | 17816972 | missense variant | G/A;C | snv | 3.5E-04; 4.0E-06 | 0.800 | 1.000 | 3 | 2000 | 2003 | ||||
|
1 | 1.000 | 0.120 | 19 | 17816946 | missense variant | G/A | snv | 4.0E-06 | 2.1E-05 | 0.800 | 1.000 | 3 | 2000 | 2003 | |||
|
1 | 1.000 | 0.120 | 19 | 17816920 | missense variant | G/A;C | snv | 4.0E-06; 4.0E-06 | 0.800 | 1.000 | 3 | 2000 | 2003 | ||||
|
1 | 1.000 | 0.120 | 19 | 17816945 | missense variant | C/T | snv | 6.9E-04 | 2.7E-04 | 0.710 | 1.000 | 1 | 2018 | 2018 | |||
|
1 | 1.000 | 0.120 | 19 | 17817033 | stop gained | G/A | snv | 1.6E-05 | 7.0E-06 | 0.700 | 0 | ||||||
|
4 | 0.882 | 0.200 | 19 | 17821329 | missense variant | T/C | snv | 0.65 | 0.70 | 0.030 | 0.667 | 3 | 2000 | 2019 | |||
|
3 | 0.882 | 0.240 | 19 | 17816591 | 3 prime UTR variant | C/T | snv | 0.69 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
2 | 0.925 | 0.200 | 19 | 17821381 | synonymous variant | T/A;C;G | snv | 0.30 | 0.37 | 0.010 | 1.000 | 1 | 2019 | 2019 | |||
|
2 | 0.925 | 0.200 | 19 | 17821480 | synonymous variant | C/T | snv | 0.10 | 7.3E-02 | 0.010 | 1.000 | 1 | 2019 | 2019 | |||
|
1 | 1.000 | 0.120 | 19 | 17821391 | missense variant | A/C | snv | 7.3E-04 | 5.5E-04 | 0.010 | 1.000 | 1 | 2009 | 2009 |