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 | 0.080 | 8 | 42839187 | missense variant | T/C | snv | 7.0E-06 | 0.800 | 1.000 | 20 | 2009 | 2017 | ||||
|
1 | 1.000 | 0.080 | 8 | 42843070 | missense variant | C/A | snv | 0.800 | 1.000 | 20 | 2009 | 2017 | |||||
|
1 | 1.000 | 0.080 | 8 | 42843025 | missense variant | T/C | snv | 0.800 | 1.000 | 20 | 2009 | 2017 | |||||
|
1 | 1.000 | 0.080 | 8 | 42843027 | missense variant | T/G | snv | 0.800 | 1.000 | 20 | 2009 | 2017 | |||||
|
1 | 1.000 | 0.080 | 8 | 42839212 | missense variant | A/G | snv | 0.800 | 1.000 | 1 | 2011 | 2011 | |||||
|
1 | 1.000 | 0.080 | 8 | 42838108 | missense variant | C/T | snv | 2.4E-05 | 2.8E-05 | 0.700 | 1.000 | 19 | 2009 | 2017 | |||
|
1 | 1.000 | 0.080 | 8 | 42839215 | missense variant | T/A;C | snv | 2.8E-05 | 0.700 | 1.000 | 19 | 2009 | 2017 | ||||
|
1 | 1.000 | 0.080 | 8 | 42838083 | missense variant | T/C | snv | 8.0E-06 | 0.700 | 1.000 | 19 | 2009 | 2017 | ||||
|
1 | 1.000 | 0.080 | 8 | 42838197 | missense variant | T/C | snv | 1.6E-05 | 1.4E-05 | 0.700 | 1.000 | 19 | 2009 | 2017 | |||
|
1 | 1.000 | 0.080 | 8 | 42838298 | frameshift variant | -/G | delins | 0.700 | 1.000 | 3 | 2009 | 2011 | |||||
|
1 | 1.000 | 0.080 | 8 | 42843093 | start lost | A/G | snv | 0.700 | 1.000 | 3 | 2009 | 2015 | |||||
|
1 | 1.000 | 0.080 | 8 | 42838099 | stop gained | G/A;C | snv | 0.700 | 1.000 | 2 | 2011 | 2012 | |||||
|
1 | 1.000 | 0.080 | 8 | 42838315 | stop gained | G/A | snv | 0.700 | 1.000 | 2 | 2009 | 2014 | |||||
|
1 | 1.000 | 0.080 | 8 | 42839244 | inframe deletion | TTG/- | delins | 0.700 | 1.000 | 2 | 2011 | 2015 | |||||
|
1 | 1.000 | 0.080 | 8 | 42843088 | stop gained | G/A | snv | 0.700 | 1.000 | 1 | 2010 | 2010 | |||||
|
4 | 0.925 | 0.120 | 8 | 42838177 | missense variant | T/C | snv | 5.2E-05 | 5.6E-05 | 0.700 | 1.000 | 1 | 2011 | 2011 | |||
|
1 | 1.000 | 0.080 | 8 | 42838098 | missense variant | C/T | snv | 1.2E-05 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||
|
1 | 1.000 | 0.080 | 8 | 42843033 | missense variant | G/A | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | 8 | 42839322 | frameshift variant | T/- | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | 8 | 42838030 | missense variant | C/T | snv | 4.0E-06 | 3.5E-05 | 0.700 | 0 | ||||||
|
1 | 1.000 | 0.080 | 8 | 42843045 | missense variant | T/C | snv | 2.8E-05 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.080 | 8 | 42839367 | missense variant | C/T | snv | 4.0E-06 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.080 | 8 | 42839206 | missense variant | A/G | snv | 4.0E-06 | 7.0E-06 | 0.700 | 0 | ||||||
|
1 | 1.000 | 0.080 | 8 | 42838209 | missense variant | A/G | snv | 1.6E-05 | 2.1E-05 | 0.700 | 0 |