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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
6 | 1.000 | 0.080 | 4 | 54729353 | missense variant | C/T | snv | 4.0E-06 | 0.750 | 1.000 | 12 | 2004 | 2019 | ||||
|
2 | 1.000 | 0.040 | 4 | 54728092 | missense variant | T/A;C | snv | 0.730 | 0.900 | 10 | 2005 | 2019 | |||||
|
5 | 1.000 | 0.080 | 4 | 54274869 | missense variant | T/A;C | snv | 0.720 | 1.000 | 7 | 2003 | 2014 | |||||
|
3 | 1.000 | 0.080 | 1 | 161314406 | start lost | A/G | snv | 4.0E-06 | 1.4E-05 | 0.700 | 1.000 | 7 | 2000 | 2013 | |||
|
4 | 1.000 | 0.080 | 4 | 54727443 | missense variant | G/A | snv | 0.710 | 1.000 | 3 | 2007 | 2013 | |||||
|
2 | 1.000 | 0.040 | 4 | 54728096 | missense variant | T/A;G | snv | 0.700 | 1.000 | 2 | 2007 | 2011 | |||||
|
2 | 1.000 | 0.080 | 4 | 54736528 | missense variant | G/A | snv | 0.700 | 1.000 | 2 | 2005 | 2014 | |||||
|
3 | 1.000 | 0.080 | 1 | 161328395 | splice acceptor variant | G/A;T | snv | 7.0E-06 | 0.700 | 1.000 | 2 | 2009 | 2014 | ||||
|
2 | 1.000 | 0.040 | 4 | 54727440 | missense variant | A/C;G | snv | 0.700 | 1.000 | 1 | 2006 | 2006 | |||||
|
2 | 1.000 | 4 | 54727438 | stop gained | G/A;C | snv | 4.0E-06 | 0.700 | 1.000 | 1 | 2006 | 2006 | |||||
|
2 | 1.000 | 0.040 | 4 | 54727439 | missense variant | G/C | snv | 0.700 | 1.000 | 1 | 2006 | 2006 | |||||
|
2 | 1.000 | 0.080 | 4 | 54738774 | 3 prime UTR variant | G/A | snv | 0.10 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
2 | 1.000 | 0.040 | 4 | 54727442 | missense variant | G/A;C;T | snv | 6.0E-05 | 0.700 | 1.000 | 1 | 2006 | 2006 | ||||
|
2 | 1.000 | 0.040 | 4 | 54274917 | missense variant | C/T | snv | 4.0E-06 | 7.0E-06 | 0.010 | 1.000 | 1 | 2009 | 2009 | |||
|
2 | 1.000 | 0.040 | 10 | 95069673 | upstream gene variant | G/T | snv | 0.18 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
2 | 1.000 | 0.080 | 1 | 161340629 | frameshift variant | G/- | del | 0.700 | 0 | ||||||||
|
3 | 1.000 | 0.120 | 17 | 31334856 | frameshift variant | T/- | delins | 0.700 | 0 | ||||||||
|
2 | 1.000 | 0.080 | 1 | 161356840 | splice donor variant | G/- | delins | 0.700 | 0 | ||||||||
|
4 | 1.000 | 0.120 | 17 | 31219018 | frameshift variant | AG/- | del | 1.4E-05 | 0.700 | 0 | |||||||
|
2 | 1.000 | 0.080 | 1 | 17022723 | missense variant | C/A;T | snv | 4.0E-06; 8.0E-06 | 0.700 | 0 | |||||||
|
3 | 0.925 | 0.080 | 4 | 54727437 | missense variant | T/A;C;G | snv | 0.730 | 1.000 | 9 | 1999 | 2018 | |||||
|
4 | 0.925 | 0.080 | 1 | 17044791 | frameshift variant | GAGGT/- | delins | 0.700 | 1.000 | 6 | 2004 | 2014 | |||||
|
4 | 0.925 | 0.080 | 1 | 161328466 | missense variant | C/T | snv | 7.0E-06 | 0.700 | 1.000 | 4 | 2009 | 2016 | ||||
|
3 | 0.925 | 0.120 | 4 | 54736498 | missense variant | G/C | snv | 0.700 | 1.000 | 3 | 2007 | 2013 | |||||
|
4 | 0.925 | 0.080 | 1 | 17024040 | missense variant | C/G;T | snv | 0.700 | 1.000 | 3 | 2002 | 2012 |