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 | 0.807 | 0.200 | 22 | 42126611 | missense variant | C/G | snv | 0.58 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
31 | 0.701 | 0.360 | 15 | 89327201 | missense variant | C/T | snv | 5.1E-04 | 6.7E-04 | 0.710 | 1.000 | 41 | 2001 | 2018 | |||
|
19 | 0.701 | 0.240 | 12 | 52904798 | missense variant | C/A | snv | 4.9E-03 | 5.4E-03 | 0.010 | 1.000 | 1 | 2015 | 2015 | |||
|
1 | 1.000 | 0.040 | 1 | 11984107 | intron variant | C/T | snv | 0.53 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
3 | 0.925 | 0.040 | 11 | 65525631 | stop gained | C/T | snv | 0.700 | 1.000 | 1 | 2018 | 2018 | |||||
|
2 | 1.000 | 0.040 | 11 | 65525924 | stop gained | G/T | snv | 0.700 | 1.000 | 1 | 2018 | 2018 | |||||
|
3 | 0.925 | 0.040 | 11 | 65535999 | missense variant | A/G | snv | 0.700 | 1.000 | 1 | 2018 | 2018 | |||||
|
3 | 0.925 | 0.040 | 11 | 65537051 | stop gained | C/T | snv | 0.700 | 1.000 | 1 | 2018 | 2018 | |||||
|
2 | 0.925 | 0.160 | 7 | 105550262 | missense variant | T/C | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.040 | 1 | 11982204 | intron variant | A/G | snv | 0.57 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
4 | 0.851 | 0.240 | 13 | 51958333 | missense variant | C/A;T | snv | 1.4E-04; 3.2E-05 | 0.020 | 1.000 | 2 | 2019 | 2020 | ||||
|
2 | 0.925 | 0.040 | 2 | 15238670 | missense variant | C/A;T | snv | 2.8E-05 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
1 | 1.000 | 0.040 | 1 | 11990577 | intron variant | T/C | snv | 0.65 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
2 | 0.925 | 0.080 | 12 | 52898859 | missense variant | C/T | snv | 3.5E-02 | 2.3E-02 | 0.020 | 1.000 | 2 | 2010 | 2015 | |||
|
1 | 1.000 | 0.040 | 12 | 52897580 | missense variant | C/T | snv | 4.3E-03 | 1.8E-02 | 0.010 | 1.000 | 1 | 2010 | 2010 | |||
|
3 | 0.925 | 0.040 | 12 | 52898860 | missense variant | G/A | snv | 7.6E-05 | 7.0E-06 | 0.010 | 1.000 | 1 | 2015 | 2015 | |||
|
187 | 0.458 | 0.760 | 9 | 5073770 | missense variant | G/A;T | snv | 3.5E-04 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
3 | 1.000 | 0.040 | 2 | 233772999 | 3 prime UTR variant | G/C | snv | 0.72 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
1 | 1.000 | 0.040 | 1 | 11986277 | intron variant | C/G | snv | 0.62 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
3 | 0.882 | 0.040 | 17 | 64496425 | missense variant | G/A | snv | 7.0E-06 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||
|
3 | 0.925 | 0.040 | 11 | 65525982 | missense variant | C/T | snv | 8.0E-06 | 7.0E-06 | 0.700 | 1.000 | 1 | 2018 | 2018 |