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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
4 | 0.925 | 0.160 | 7 | 30924207 | 3 prime UTR variant | G/C | snv | 0.52 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
6 | 0.827 | 0.200 | 3 | 52403428 | frameshift variant | G/- | delins | 0.700 | 1.000 | 1 | 2015 | 2015 | |||||
|
33 | 0.641 | 0.680 | 11 | 34438684 | upstream gene variant | C/T | snv | 0.16 | 0.010 | < 0.001 | 1 | 2018 | 2018 | ||||
|
1 | 1.000 | 0.080 | 11 | 122862895 | intron variant | G/T | snv | 0.700 | 1.000 | 1 | 2013 | 2013 | |||||
|
62 | 0.572 | 0.640 | 19 | 45420395 | synonymous variant | A/G | snv | 0.50 | 0.55 | 0.010 | 1.000 | 1 | 2019 | 2019 | |||
|
42 | 0.620 | 0.400 | 19 | 45409478 | stop gained | C/A;G;T | snv | 0.29; 4.3E-06; 4.3E-06 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
48 | 0.600 | 0.640 | 16 | 55477894 | intron variant | C/T | snv | 0.19 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
5 | 0.827 | 0.200 | 8 | 89955487 | missense variant | T/C | snv | 1.2E-05 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
59 | 0.576 | 0.680 | 16 | 69711242 | missense variant | G/A | snv | 0.25 | 0.21 | 0.010 | 1.000 | 1 | 2018 | 2018 | |||
|
147 | 0.476 | 0.800 | 3 | 9757089 | missense variant | C/G | snv | 0.27 | 0.22 | 0.010 | < 0.001 | 1 | 2018 | 2018 | |||
|
8 | 0.776 | 0.320 | 11 | 32392717 | stop gained | G/A | snv | 0.700 | 0 | ||||||||
|
205 | 0.441 | 0.800 | 19 | 43551574 | missense variant | T/C | snv | 0.68 | 0.71 | 0.010 | 1.000 | 1 | 2012 | 2012 |