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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
3 | 14 | 20457260 | missense variant | C/T | snv | 1.2E-05 | 2.8E-05 | 0.030 | 1.000 | 3 | 2001 | 2017 | |||||
|
1 | 15 | 66481830 | missense variant | T/C | snv | 0.700 | 1.000 | 2 | 2009 | 2013 | |||||||
|
1 | 6 | 43770833 | missense variant | G/A | snv | 1.6E-05 | 0.020 | 1.000 | 2 | 2015 | 2015 | ||||||
|
1 | 16 | 56608372 | upstream gene variant | A/G | snv | 0.30 | 0.020 | 1.000 | 2 | 2014 | 2015 | ||||||
|
3 | 3 | 186843845 | intron variant | G/A | snv | 0.14 | 0.020 | 1.000 | 2 | 2011 | 2013 | ||||||
|
1 | 15 | 66436762 | missense variant | T/A;G | snv | 0.700 | 1.000 | 2 | 2009 | 2013 | |||||||
|
1 | 5 | 68295271 | missense variant | C/A;G;T | snv | 4.0E-06 | 0.700 | 1.000 | 2 | 2014 | 2014 | ||||||
|
1 | 7 | 55156555 | synonymous variant | T/C | snv | 5.6E-05 | 1.4E-05 | 0.020 | 1.000 | 2 | 2014 | 2016 | |||||
|
1 | 3 | 39094706 | missense variant | G/C | snv | 0.010 | 1.000 | 1 | 2015 | 2015 | |||||||
|
1 | 9 | 132398145 | synonymous variant | G/A | snv | 7.0E-06 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||||
|
1 | 7 | 18814978 | intron variant | T/A | snv | 0.46 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||||
|
1 | 9 | 87541931 | intron variant | C/T | snv | 0.14 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||||
|
1 | 21 | 45456344 | missense variant | C/A | snv | 0.010 | 1.000 | 1 | 2006 | 2006 | |||||||
|
1 | 5 | 151128211 | missense variant | G/A | snv | 2.0E-04 | 7.0E-05 | 0.010 | 1.000 | 1 | 2014 | 2014 | |||||
|
1 | 9 | 87707108 | missense variant | G/A | snv | 0.67 | 0.59 | 0.010 | 1.000 | 1 | 2007 | 2007 | |||||
|
2 | 4 | 54733175 | missense variant | T/G | snv | 0.010 | 1.000 | 1 | 2019 | 2019 | |||||||
|
1 | 12 | 56088073 | missense variant | C/A;G | snv | 4.0E-06 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||||
|
1 | 15 | 66436810 | missense variant | A/C | snv | 0.700 | 1.000 | 1 | 2009 | 2009 | |||||||
|
1 | 15 | 66436814 | missense variant | G/C;T | snv | 0.700 | 1.000 | 1 | 2009 | 2009 | |||||||
|
2 | 6 | 152011697 | missense variant | G/C | snv | 0.010 | 1.000 | 1 | 2017 | 2017 | |||||||
|
2 | 3 | 41224630 | missense variant | A/C;G;T | snv | 0.700 | 1.000 | 1 | 2014 | 2014 | |||||||
|
1 | 5 | 68295257 | missense variant | G/T | snv | 0.700 | 1.000 | 1 | 2014 | 2014 | |||||||
|
1 | 5 | 68295257 | inframe deletion | GACAAACGTATGAACAGC/- | del | 0.700 | 1.000 | 1 | 2014 | 2014 | |||||||
|
1 | 5 | 68295304 | inframe deletion | CGA/- | delins | 0.700 | 1.000 | 1 | 2014 | 2014 | |||||||
|
1 | 5 | 112839522 | frameshift variant | AAGATTGGAAC/- | del | 0.700 | 1.000 | 1 | 2014 | 2014 |