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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
614 | 0.330 | 0.920 | 1 | 11796309 | missense variant | A/G | snv | 4.0E-06 | 7.0E-06 | 0.060 | 1.000 | 6 | 2009 | 2019 | |||
|
1 | 1.000 | 0.040 | 1 | 160053263 | intron variant | G/T | snv | 0.49 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
2 | 1.000 | 0.040 | 1 | 246551218 | missense variant | G/A | snv | 3.2E-03 | 1.6E-03 | 0.010 | 1.000 | 1 | 2018 | 2018 | |||
|
1 | 1.000 | 0.040 | 1 | 162154408 | missense variant | G/A | snv | 1.6E-05 | 7.7E-05 | 0.010 | 1.000 | 1 | 2010 | 2010 | |||
|
2 | 0.925 | 0.040 | 1 | 162367213 | missense variant | G/A | snv | 2.8E-05 | 0.010 | 1.000 | 1 | 2010 | 2010 | ||||
|
174 | 0.472 | 0.880 | 1 | 11796321 | missense variant | G/A | snv | 0.31 | 0.27 | 0.010 | 1.000 | 1 | 2018 | 2018 | |||
|
135 | 0.496 | 0.800 | 1 | 236885200 | missense variant | A/G | snv | 0.20 | 0.21 | 0.010 | 1.000 | 1 | 2018 | 2018 | |||
|
6 | 0.807 | 0.200 | 1 | 186680089 | intron variant | A/G | snv | 0.83 | 0.010 | 1.000 | 1 | 2008 | 2008 | ||||
|
306 | 0.405 | 0.880 | 1 | 11794407 | missense variant | T/G | snv | 0.010 | 1.000 | 1 | 2013 | 2013 | |||||
|
1 | 1.000 | 0.040 | 1 | 151405647 | missense variant | A/C;G | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.040 | 1 | 151428041 | missense variant | G/A | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.040 | 1 | 151408777 | missense variant | T/C | snv | 7.0E-06 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.040 | 1 | 151404828 | missense variant | C/T | snv | 4.0E-06 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.040 | 1 | 151428188 | missense variant | G/A;C | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.040 | 1 | 151405155 | missense variant | A/G | snv | 7.0E-06 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.040 | 1 | 151405229 | missense variant | T/C | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.040 | 1 | 151405233 | missense variant | T/C | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.040 | 1 | 151405263 | missense variant | T/A | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.040 | 1 | 151406330 | missense variant | G/A | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.040 | 1 | 151407271 | missense variant | C/T | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.040 | 1 | 151408807 | missense variant | T/G | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.040 | 1 | 151424027 | missense variant | G/C | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.040 | 1 | 151424154 | missense variant | G/C | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.040 | 1 | 151427931 | missense variant | G/C | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.040 | 1 | 151427999 | missense variant | A/G | snv | 0.700 | 0 |