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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
1 | 1.000 | 0.040 | 17 | 18865880 | missense variant | C/T | snv | 0.010 | 1.000 | 1 | 2011 | 2011 | |||||
|
4 | 1.000 | 0.040 | 20 | 58903791 | splice region variant | C/G;T | snv | 4.0E-06; 2.3E-03 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||
|
1 | 1.000 | 0.040 | 7 | 94404745 | missense variant | C/T | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||
|
1 | 1.000 | 0.040 | 11 | 64598551 | missense variant | C/T | snv | 0.010 | 1.000 | 1 | 2011 | 2011 | |||||
|
1 | 1.000 | 0.040 | 22 | 48710770 | intron variant | C/T | snv | 0.69 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
4 | 1.000 | 0.040 | 6 | 43780749 | missense variant | A/G | snv | 1.2E-05 | 3.5E-05 | 0.700 | 1.000 | 1 | 2018 | 2018 | |||
|
1 | 1.000 | 0.040 | 20 | 53953466 | missense variant | C/T | snv | 1.2E-04 | 1.9E-04 | 0.700 | 1.000 | 1 | 2018 | 2018 | |||
|
1 | 1.000 | 0.040 | 16 | 89637551 | splice region variant | C/T | snv | 2.2E-04 | 3.6E-04 | 0.700 | 1.000 | 1 | 2018 | 2018 | |||
|
3 | 1.000 | 0.040 | 6 | 7226577 | missense variant | A/G | snv | 1.8E-04 | 2.1E-04 | 0.700 | 1.000 | 1 | 2018 | 2018 | |||
|
2 | 1.000 | 0.040 | 16 | 20341262 | missense variant | G/A;T | snv | 7.4E-04; 1.2E-05 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||
|
1 | 1.000 | 0.040 | 15 | 98957359 | missense variant | G/A | snv | 1.1E-04 | 3.6E-04 | 0.700 | 1.000 | 1 | 2018 | 2018 | |||
|
3 | 1.000 | 0.040 | 5 | 73123606 | missense variant | G/A | snv | 6.8E-05; 8.0E-06 | 9.1E-05 | 0.700 | 1.000 | 1 | 2018 | 2018 | |||
|
1 | 1.000 | 0.040 | 11 | 64598471 | intron variant | T/A;C | snv | 6.5E-06; 0.57 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
1 | 1.000 | 0.040 | 17 | 39870781 | missense variant | C/T | snv | 2.8E-05 | 1.9E-04 | 0.010 | 1.000 | 1 | 2011 | 2011 | |||
|
2 | 1.000 | 0.040 | 4 | 88094576 | splice donor variant | C/A;T | snv | 5.2E-05 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||
|
1 | 1.000 | 0.040 | 7 | 73478187 | missense variant | T/C | snv | 3.3E-04 | 3.5E-05 | 0.700 | 1.000 | 1 | 2018 | 2018 | |||
|
3 | 1.000 | 0.040 | 16 | 69647162 | missense variant | G/A | snv | 8.2E-04 | 6.7E-04 | 0.700 | 1.000 | 1 | 2018 | 2018 | |||
|
2 | 1.000 | 0.040 | 19 | 38101163 | missense variant | C/T | snv | 4.5E-05 | 5.6E-05 | 0.700 | 1.000 | 1 | 2018 | 2018 | |||
|
4 | 1.000 | 0.040 | 3 | 186065822 | missense variant | C/A;T | snv | 4.0E-06; 7.2E-05 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||
|
4 | 1.000 | 0.040 | 3 | 66383098 | missense variant | G/A;C | snv | 1.4E-04; 4.0E-06 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||
|
4 | 1.000 | 0.040 | 15 | 53705141 | missense variant | T/G | snv | 3.5E-03 | 1.5E-02 | 0.700 | 1.000 | 1 | 2018 | 2018 | |||
|
1 | 1.000 | 0.040 | 11 | 64591802 | missense variant | C/A;T | snv | 4.0E-06; 3.7E-02 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
1 | 1.000 | 0.040 | 13 | 95166034 | intron variant | G/A | snv | 1.9E-02 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
1 | 1.000 | 0.040 | 11 | 64591133 | 5 prime UTR variant | T/C | snv | 0.45 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
3 | 1.000 | 0.040 | 20 | 54028628 | missense variant | C/A;T | snv | 1.1E-02; 8.0E-06 | 0.700 | 1.000 | 1 | 2018 | 2018 |