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 | 14 | 100728224 | intron variant | A/G | snv | 0.62 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
1 | 1.000 | 0.040 | 20 | 44428455 | missense variant | T/C | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
1 | 1.000 | 0.040 | 20 | 3079704 | downstream gene variant | A/C | snv | 0.62 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
1 | 1.000 | 0.040 | 2 | 27501147 | missense variant | G/A | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
1 | 1.000 | 0.040 | 20 | 3084303 | intron variant | C/T | snv | 0.60 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
1 | 1.000 | 0.040 | 20 | 3081340 | downstream gene variant | A/C | snv | 0.35 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
1 | 1.000 | 0.040 | 20 | 3089925 | upstream gene variant | T/C | snv | 0.58 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
1 | 1.000 | 0.040 | 7 | 44149816 | missense variant | G/A | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
1 | 1.000 | 0.040 | 12 | 46769424 | missense variant | C/T | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
1 | 1.000 | 0.040 | 7 | 44145228 | missense variant | T/C | snv | 4.1E-06 | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||
|
1 | 1.000 | 0.040 | 11 | 17474926 | missense variant | C/A;G;T | snv | 4.0E-06; 4.0E-06; 2.0E-05 | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||
|
2 | 0.925 | 0.080 | 7 | 44149977 | missense variant | G/A;T | snv | 8.0E-06 | 0.700 | 1.000 | 12 | 2000 | 2012 | ||||
|
2 | 0.925 | 0.080 | 12 | 120997492 | frameshift variant | CA/- | delins | 4.0E-06 | 0.700 | 1.000 | 7 | 1997 | 2014 | ||||
|
2 | 0.925 | 0.080 | 20 | 44424123 | missense variant | G/A | snv | 4.0E-06 | 0.700 | 1.000 | 6 | 2000 | 2016 | ||||
|
2 | 0.925 | 0.080 | 7 | 44145173 | missense variant | G/A;T | snv | 4.2E-06 | 0.700 | 1.000 | 5 | 2003 | 2012 | ||||
|
2 | 0.925 | 0.080 | 11 | 2159907 | missense variant | T/C | snv | 0.700 | 1.000 | 5 | 2007 | 2015 | |||||
|
2 | 0.925 | 0.080 | 11 | 2159895 | missense variant | G/C | snv | 0.700 | 1.000 | 5 | 2007 | 2015 | |||||
|
2 | 0.925 | 0.080 | 12 | 120993686 | frameshift variant | -/C | delins | 0.700 | 1.000 | 4 | 2000 | 2013 | |||||
|
2 | 0.925 | 0.080 | 20 | 44414663 | splice donor variant | G/A | snv | 0.700 | 1.000 | 4 | 1977 | 2013 | |||||
|
2 | 0.925 | 0.040 | 11 | 17387395 | missense variant | G/A | snv | 0.700 | 1.000 | 4 | 2011 | 2016 | |||||
|
2 | 0.925 | 0.080 | 20 | 44407421 | stop gained | C/T | snv | 0.700 | 1.000 | 4 | 2000 | 2013 | |||||
|
2 | 0.925 | 0.080 | 7 | 44145190 | frameshift variant | G/- | del | 0.700 | 1.000 | 3 | 2003 | 2009 | |||||
|
2 | 0.925 | 0.080 | 7 | 44146466 | missense variant | T/C | snv | 0.700 | 1.000 | 3 | 2006 | 2011 | |||||
|
2 | 0.925 | 0.080 | 7 | 44153396 | missense variant | T/G | snv | 0.700 | 1.000 | 3 | 2000 | 2014 | |||||
|
2 | 0.925 | 0.080 | 12 | 120996261 | splice acceptor variant | G/A;C | snv | 0.700 | 1.000 | 3 | 2009 | 2013 |