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 | 2 | 165991711 | missense variant | G/A | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.040 | 2 | 165991924 | missense variant | A/G;T | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.040 | 2 | 166052864 | missense variant | A/G | snv | 0.800 | 1.000 | 1 | 2010 | 2010 | |||||
|
1 | 1.000 | 0.040 | 2 | 166052945 | splice acceptor variant | T/C | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.040 | 2 | 165994184 | missense variant | T/A | snv | 0.800 | 1.000 | 1 | 2010 | 2010 | |||||
|
1 | 1.000 | 0.040 | 2 | 166013758 | frameshift variant | -/A | delins | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.080 | 2 | 165992362 | missense variant | A/T | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.040 | 2 | 166037903 | missense variant | G/A | snv | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.040 | 2 | 166047647 | missense variant | A/T | snv | 0.700 | 1.000 | 20 | 2003 | 2017 | |||||
|
1 | 1.000 | 0.040 | 2 | 166047710 | missense variant | T/G | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.040 | 2 | 165992349 | missense variant | C/A | snv | 0.700 | 1.000 | 20 | 2003 | 2017 | |||||
|
1 | 1.000 | 0.040 | 2 | 165992296 | missense variant | A/G | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.040 | 2 | 165992275 | missense variant | A/G | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.040 | 2 | 166002623 | stop lost | T/G | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.040 | 2 | 166073435 | missense variant | A/G | snv | 7.0E-06 | 0.700 | 1.000 | 21 | 2003 | 2017 | ||||
|
1 | 1.000 | 0.040 | 2 | 165999764 | stop gained | C/A;G;T | snv | 0.700 | 1.000 | 21 | 2003 | 2017 | |||||
|
1 | 1.000 | 0.040 | 2 | 166051967 | missense variant | G/A | snv | 0.700 | 1.000 | 21 | 2003 | 2017 | |||||
|
1 | 1.000 | 0.040 | 2 | 166013752 | missense variant | C/G | snv | 0.700 | 1.000 | 21 | 2003 | 2017 | |||||
|
1 | 1.000 | 0.040 | 2 | 166012254 | missense variant | C/T | snv | 7.0E-06 | 0.700 | 1.000 | 20 | 2003 | 2017 | ||||
|
1 | 1.000 | 0.040 | 2 | 166002491 | missense variant | T/C | snv | 4.0E-06 | 0.700 | 1.000 | 21 | 2003 | 2017 | ||||
|
1 | 1.000 | 0.040 | 2 | 165992387 | missense variant | C/G;T | snv | 0.700 | 1.000 | 21 | 2003 | 2017 | |||||
|
3 | 1.000 | 0.040 | 2 | 165994176 | missense variant | C/A | snv | 0.800 | 1.000 | 21 | 2003 | 2017 | |||||
|
1 | 1.000 | 0.040 | 2 | 165991916 | missense variant | C/T | snv | 0.700 | 1.000 | 21 | 2003 | 2017 | |||||
|
1 | 1.000 | 0.040 | 2 | 166037852 | missense variant | C/A | snv | 0.700 | 1.000 | 21 | 2003 | 2017 | |||||
|
4 | 0.851 | 0.040 | 2 | 166058651 | missense variant | C/A;T | snv | 0.800 | 1.000 | 25 | 2003 | 2017 |