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 | 0.040 | 7 | 25123996 | missense variant | C/T | snv | 0.710 | 1.000 | 2 | 2014 | 2019 | |||||
|
6 | 0.851 | 0.120 | 12 | 11869601 | missense variant | C/T | snv | 0.710 | 1.000 | 2 | 2015 | 2015 | |||||
|
4 | 0.882 | 0.120 | 12 | 11884481 | missense variant | T/C | snv | 0.710 | 1.000 | 1 | 2015 | 2015 | |||||
|
3 | 0.925 | 0.040 | 20 | 37403347 | missense variant | G/A | snv | 0.710 | 1.000 | 1 | 2019 | 2019 | |||||
|
8 | 0.807 | 0.360 | 13 | 108208829 | stop gained | G/A | snv | 9.9E-05 | 7.0E-05 | 0.700 | 1.000 | 2 | 2001 | 2014 | |||
|
5 | 0.925 | 0.040 | 2 | 191009916 | frameshift variant | T/- | delins | 0.700 | 1.000 | 2 | 2016 | 2018 | |||||
|
6 | 0.827 | 0.120 | X | 48792377 | missense variant | A/G | snv | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||
|
3 | 1.000 | 0.080 | 17 | 4933367 | missense variant | A/G | snv | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||
|
4 | 0.925 | 0.080 | 22 | 19723980 | stop gained | G/A;C | snv | 7.5E-06 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
3 | 0.925 | 0.120 | X | 48684284 | missense variant | C/T | snv | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||
|
5 | 0.851 | 0.080 | 1 | 43337929 | splice donor variant | T/A | snv | 4.0E-04 | 1.7E-04 | 0.700 | 1.000 | 1 | 2019 | 2019 | |||
|
9 | 0.827 | 0.240 | 2 | 162273810 | missense variant | T/A | snv | 0.700 | 1.000 | 1 | 2020 | 2020 | |||||
|
1 | 21 | 34799310 | stop gained | G/A | snv | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||||
|
4 | 0.882 | 0.160 | 1 | 43338634 | missense variant | G/A;C | snv | 8.0E-06; 3.8E-04 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
5 | 0.882 | 0.080 | 3 | 129061921 | missense variant | A/G | snv | 4.8E-04 | 7.4E-04 | 0.700 | 1.000 | 1 | 2019 | 2019 | |||
|
1 | 1 | 43338592 | missense variant | G/A | snv | 4.0E-06 | 7.0E-06 | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||
|
3 | 1.000 | 12 | 11885968 | missense variant | C/A;T | snv | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||||
|
3 | 1.000 | 12 | 11884541 | missense variant | G/A | snv | 7.0E-06 | 0.700 | 1.000 | 1 | 2015 | 2015 | |||||
|
3 | 0.925 | 0.160 | 13 | 108209756 | frameshift variant | AG/-;AGAG | delins | 0.700 | 1.000 | 1 | 2014 | 2014 | |||||
|
4 | 0.882 | 0.080 | 17 | 44372408 | missense variant | G/A;T | snv | 4.0E-06 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
1 | 9 | 36246181 | missense variant | A/G | snv | 8.0E-06 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
2 | 1.000 | 0.120 | 10 | 27100460 | 5 prime UTR variant | C/T | snv | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||
|
2 | 1.000 | 11 | 128810620 | frameshift variant | ATTA/- | delins | 0.700 | 0 | |||||||||
|
9 | 0.807 | 0.120 | 17 | 56848773 | stop gained | G/A | snv | 9.1E-05 | 1.5E-04 | 0.700 | 0 | ||||||
|
20 | 0.763 | 0.280 | 15 | 82240555 | missense variant | T/C | snv | 8.2E-06 | 0.700 | 0 |