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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
8 | 0.827 | 0.160 | 22 | 19176585 | missense variant | C/A;T | snv | 4.0E-06; 1.6E-05 | 7.0E-06 | 0.010 | 1.000 | 1 | 2020 | 2020 | |||
|
3 | 6 | 31165217 | missense variant | C/T | snv | 4.1E-06 | 2.1E-05 | 0.010 | 1.000 | 1 | 2019 | 2019 | |||||
|
2 | 1.000 | 0.080 | 3 | 70977021 | missense variant | T/C | snv | 4.0E-06 | 7.0E-06 | 0.010 | 1.000 | 1 | 2019 | 2019 | |||
|
2 | 1.000 | 0.080 | 3 | 70959372 | missense variant | C/T | snv | 0.010 | 1.000 | 1 | 2019 | 2019 | |||||
|
1 | 22 | 31277081 | missense variant | T/C | snv | 1.1E-03 | 1.2E-03 | 0.010 | 1.000 | 1 | 2019 | 2019 | |||||
|
1 | 1 | 212961166 | missense variant | C/A;G;T | snv | 4.0E-06; 1.6E-05; 3.2E-05 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||||
|
3 | 0.925 | 0.040 | 22 | 23791772 | missense variant | G/A;C | snv | 0.010 | < 0.001 | 1 | 2019 | 2019 | |||||
|
14 | 0.763 | 0.040 | 5 | 161873196 | missense variant | G/A | snv | 0.010 | 1.000 | 1 | 2019 | 2019 | |||||
|
4 | 0.925 | 0.080 | 19 | 1912477 | missense variant | G/A | snv | 7.0E-06 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
2 | 1.000 | 0.040 | 5 | 161895753 | missense variant | G/T | snv | 0.010 | 1.000 | 1 | 2019 | 2019 | |||||
|
2 | 1.000 | 0.120 | 5 | 70049747 | missense variant | T/C | snv | 0.010 | 1.000 | 1 | 2019 | 2019 | |||||
|
3 | 6 | 31165136 | missense variant | C/T | snv | 8.4E-06 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||||
|
2 | 1.000 | 1 | 22086451 | missense variant | A/G | snv | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||||
|
7 | 0.827 | 0.120 | 12 | 51806345 | missense variant | G/T | snv | 0.010 | 1.000 | 1 | 2019 | 2019 | |||||
|
3 | 0.925 | 0.200 | X | 71169399 | missense variant | C/T | snv | 0.010 | 1.000 | 1 | 2019 | 2019 | |||||
|
7 | 0.807 | 0.120 | 12 | 51790425 | stop gained | G/A;T | snv | 0.010 | 1.000 | 1 | 2019 | 2019 | |||||
|
2 | 1.000 | 0.120 | X | 48902470 | missense variant | G/A | snv | 0.010 | 1.000 | 1 | 2018 | 2018 | |||||
|
2 | 1.000 | 0.120 | 16 | 46926991 | missense variant | G/A | snv | 0.010 | 1.000 | 1 | 2018 | 2018 | |||||
|
2 | 17 | 10525806 | missense variant | G/A | snv | 8.6E-04 | 1.9E-04 | 0.010 | 1.000 | 1 | 2018 | 2018 | |||||
|
2 | 1.000 | 0.160 | 7 | 44220165 | missense variant | C/A;G;T | snv | 2.6E-04; 5.8E-05 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
2 | 17 | 10533547 | missense variant | C/T | snv | 1.6E-04 | 1.0E-04 | 0.010 | 1.000 | 1 | 2018 | 2018 | |||||
|
5 | 0.882 | 0.160 | 10 | 73842486 | missense variant | C/A;G | snv | 0.010 | 1.000 | 1 | 2018 | 2018 | |||||
|
3 | 0.925 | 0.280 | 3 | 142556117 | missense variant | C/T | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
2 | 1.000 | 0.200 | 8 | 116854423 | missense variant | C/T | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
3 | 0.925 | 0.200 | 3 | 94003751 | missense variant | G/A | snv | 7.0E-06 | 0.010 | 1.000 | 1 | 2017 | 2017 |