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 | 1.000 | 10 | 100989211 | missense variant | G/A;T | snv | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||||
|
1 | 10 | 100989213 | missense variant | C/A | snv | 0.700 | 1.000 | 1 | 2017 | 2017 | |||||||
|
2 | 1.000 | 0.200 | 10 | 100989285 | missense variant | G/A;T | snv | 0.700 | 1.000 | 1 | 2017 | 2017 | |||||
|
10 | 0.807 | 0.320 | 10 | 100989331 | missense variant | G/A | snv | 0.700 | 1.000 | 1 | 2017 | 2017 | |||||
|
2 | 1.000 | 0.200 | 10 | 100989352 | missense variant | T/C;G | snv | 0.700 | 1.000 | 1 | 2017 | 2017 | |||||
|
2 | 1.000 | 0.200 | 10 | 100989774 | splice acceptor variant | G/T | snv | 0.700 | 1.000 | 1 | 2017 | 2017 | |||||
|
1 | 10 | 100989791 | missense variant | T/C | snv | 0.700 | 1.000 | 1 | 2017 | 2017 | |||||||
|
2 | 1.000 | 3 | 101565323 | missense variant | G/A;T | snv | 4.0E-06; 1.1E-04 | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||
|
2 | 1.000 | 3 | 101565595 | missense variant | A/G | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||||
|
2 | 1.000 | 0.200 | 8 | 102208239 | frameshift variant | A/- | delins | 0.700 | 1.000 | 1 | 2017 | 2017 | |||||
|
1 | 8 | 102238827 | splice region variant | C/T | snv | 8.0E-06 | 2.1E-05 | 0.700 | 1.000 | 1 | 2017 | 2017 | |||||
|
1 | 12 | 104327633 | synonymous variant | T/C | snv | 1.2E-04 | 9.8E-05 | 0.010 | 1.000 | 1 | 2010 | 2010 | |||||
|
1 | MT | 11467 | synonymous variant | A/G | snv | 0.700 | 0 | ||||||||||
|
1 | MT | 12271 | non coding transcript exon variant | T/C | snv | 0.700 | 0 | ||||||||||
|
1 | MT | 12283 | non coding transcript exon variant | G/A | snv | 0.700 | 0 | ||||||||||
|
1 | MT | 12372 | synonymous variant | G/A | snv | 0.700 | 0 | ||||||||||
|
45 | 0.708 | 0.440 | 19 | 1242559 | missense variant | C/T | snv | 6.7E-06 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
3 | 0.925 | 0.040 | 19 | 1244118 | missense variant | T/G | snv | 0.710 | 1.000 | 1 | 2018 | 2018 | |||||
|
3 | 0.925 | 11 | 126276476 | missense variant | C/T | snv | 2.4E-05 | 1.4E-05 | 0.010 | 1.000 | 1 | 2010 | 2010 | ||||
|
2 | 1.000 | 0.160 | MT | 13051 | missense variant | G/A | snv | 0.700 | 0 | ||||||||
|
4 | 0.882 | 0.200 | MT | 13513 | missense variant | G/A | snv | 0.700 | 0 | ||||||||
|
1 | 8 | 144096675 | missense variant | C/G;T | snv | 4.0E-06; 8.0E-06 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||||
|
3 | 0.925 | 0.200 | MT | 14674 | non coding transcript exon variant | T/C;G | snv | 0.700 | 0 | ||||||||
|
4 | 0.882 | 0.320 | MT | 14709 | non coding transcript exon variant | T/C | snv | 0.700 | 0 | ||||||||
|
3 | 1.000 | 6 | 151405236 | stop lost | C/G;T | snv | 2.0E-05; 4.0E-03 | 0.700 | 1.000 | 1 | 2016 | 2016 |