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 | 19 | 11120186 | missense variant | T/C | snv | 0.010 | 1.000 | 1 | 2004 | 2004 | |||||
|
1 | 1.000 | 0.040 | 19 | 11120146 | missense variant | C/T | snv | 2.1E-05 | 0.010 | 1.000 | 1 | 1996 | 1996 | ||||
|
1 | 1.000 | 0.040 | 19 | 11129527 | missense variant | C/T | snv | 0.010 | 1.000 | 1 | 1996 | 1996 | |||||
|
1 | 1.000 | 0.040 | 1 | 150766283 | upstream gene variant | T/C | snv | 0.35 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
1 | 1.000 | 0.040 | 22 | 46202410 | intron variant | A/G | snv | 0.30 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
1 | 1.000 | 0.040 | 4 | 88114965 | missense variant | T/C | snv | 2.8E-05 | 2.8E-05 | 0.010 | 1.000 | 1 | 2017 | 2017 | |||
|
1 | 1.000 | 0.040 | 19 | 11107405 | missense variant | G/C | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 1997 | 1997 | ||||
|
1 | 1.000 | 0.040 | 19 | 11113593 | missense variant | A/G | snv | 0.010 | < 0.001 | 1 | 2015 | 2015 | |||||
|
1 | 1.000 | 0.040 | 19 | 11129534 | missense variant | T/C | snv | 2.4E-05 | 2.1E-05 | 0.010 | 1.000 | 1 | 2004 | 2004 | |||
|
2 | 1.000 | 0.040 | 7 | 24287362 | intron variant | C/T | snv | 0.97 | 0.020 | 1.000 | 2 | 2008 | 2009 | ||||
|
2 | 1.000 | 0.040 | 12 | 109237224 | synonymous variant | T/A;C;G | snv | 4.0E-06; 0.83 | 0.020 | 1.000 | 2 | 2008 | 2009 | ||||
|
2 | 0.925 | 0.040 | 1 | 55052407 | frameshift variant | -/T | ins | 0.010 | 1.000 | 1 | 2007 | 2007 | |||||
|
2 | 1.000 | 0.040 | 17 | 64378896 | intron variant | G/A | snv | 0.40 | 0.010 | 1.000 | 1 | 2008 | 2008 | ||||
|
2 | 1.000 | 0.040 | 1 | 209678552 | intron variant | A/G;T | snv | 0.010 | 1.000 | 1 | 2014 | 2014 | |||||
|
2 | 1.000 | 0.040 | 13 | 98684126 | 3 prime UTR variant | T/C | snv | 0.11 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
2 | 1.000 | 0.040 | 20 | 47581409 | intron variant | C/T | snv | 0.29 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
2 | 0.925 | 0.080 | 19 | 11113426 | missense variant | C/A;G | snv | 1.6E-05 | 0.010 | 1.000 | 1 | 1997 | 1997 | ||||
|
2 | 0.925 | 0.080 | 6 | 46716518 | missense variant | A/G | snv | 0.010 | 1.000 | 1 | 2004 | 2004 | |||||
|
2 | 0.925 | 0.080 | 2 | 21006422 | missense variant | G/A;T | snv | 4.0E-06 | 7.0E-06 | 0.010 | < 0.001 | 1 | 1997 | 1997 | |||
|
2 | 0.925 | 0.080 | 19 | 11113599 | frameshift variant | GC/A | delins | 0.010 | 1.000 | 1 | 1998 | 1998 | |||||
|
2 | 0.925 | 0.080 | 19 | 11102769 | stop gained | C/G | snv | 4.0E-06 | 0.700 | 0 | |||||||
|
3 | 0.882 | 0.080 | 1 | 55058549 | missense variant | C/T | snv | 6.0E-04 | 2.8E-03 | 0.010 | 1.000 | 1 | 2005 | 2005 | |||
|
3 | 0.925 | 0.120 | 13 | 30737959 | intron variant | A/T | snv | 0.010 | 1.000 | 1 | 2017 | 2017 | |||||
|
3 | 0.925 | 0.120 | 16 | 56982180 | missense variant | G/A;C | snv | 0.010 | 1.000 | 1 | 2017 | 2017 | |||||
|
3 | 0.925 | 0.080 | 1 | 32869438 | intron variant | G/A;T | snv | 0.010 | 1.000 | 1 | 2015 | 2015 |