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 | 7 | 35204548 | missense variant | A/C;T | snv | 0.010 | 1.000 | 1 | 2015 | 2015 | |||||||
|
1 | 5 | 173233003 | stop gained | G/A | snv | 0.010 | 1.000 | 1 | 2017 | 2017 | |||||||
|
1 | 1 | 85581440 | missense variant | C/G;T | snv | 0.010 | 1.000 | 1 | 2015 | 2015 | |||||||
|
1 | 7 | 151007245 | missense variant | C/G | snv | 4.2E-06 | 0.010 | 1.000 | 1 | 2010 | 2010 | ||||||
|
1 | 12 | 114366360 | missense variant | C/T | snv | 1.2E-03 | 4.1E-03 | 0.010 | 1.000 | 1 | 2008 | 2008 | |||||
|
1 | 2 | 130522115 | missense variant | T/A;C | snv | 0.010 | 1.000 | 1 | 2007 | 2007 | |||||||
|
1 | 4 | 166003545 | missense variant | A/G | snv | 8.0E-06 | 2.8E-05 | 0.010 | 1.000 | 1 | 2016 | 2016 | |||||
|
1 | 7 | 35202590 | missense variant | A/C | snv | 0.010 | 1.000 | 1 | 2015 | 2015 | |||||||
|
1 | 2 | 74498109 | missense variant | T/C | snv | 1.7E-04 | 1.8E-04 | 0.010 | 1.000 | 1 | 2018 | 2018 | |||||
|
1 | 4 | 121823490 | missense variant | G/A | snv | 8.1E-06 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||||
|
2 | 1.000 | 5 | 173233011 | missense variant | G/A | snv | 0.010 | 1.000 | 1 | 2003 | 2003 | ||||||
|
2 | 1.000 | 0.080 | 4 | 166003471 | missense variant | T/C | snv | 2.1E-04 | 2.4E-04 | 0.010 | 1.000 | 1 | 2009 | 2009 | |||
|
2 | 2 | 130597533 | missense variant | C/T | snv | 0.010 | 1.000 | 1 | 2007 | 2007 | |||||||
|
2 | 1.000 | 0.080 | 8 | 11750166 | missense variant | C/G;T | snv | 0.010 | 1.000 | 1 | 2010 | 2010 | |||||
|
2 | 2 | 178782573 | missense variant | C/A;T | snv | 8.0E-06 | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||||
|
2 | 1.000 | 0.080 | 5 | 173233109 | missense variant | G/C | snv | 0.010 | 1.000 | 1 | 2018 | 2018 | |||||
|
2 | 1.000 | 0.080 | 8 | 11758294 | missense variant | C/T | snv | 2.8E-05 | 1.4E-05 | 0.010 | 1.000 | 1 | 2000 | 2000 | |||
|
2 | 1.000 | 0.040 | 14 | 53956335 | splice region variant | A/C | snv | 0.35 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
2 | 1.000 | 5 | 173232792 | frameshift variant | T/- | delins | 0.700 | 0 | |||||||||
|
3 | 1.000 | 5 | 173232776 | stop gained | A/C;T | snv | 0.010 | 1.000 | 1 | 2006 | 2006 | ||||||
|
3 | 1.000 | 0.040 | 6 | 43178806 | missense variant | G/A | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
3 | 0.925 | 0.080 | 18 | 22172215 | frameshift variant | G/- | delins | 0.700 | 1.000 | 1 | 2014 | 2014 | |||||
|
3 | 1.000 | 0.080 | 10 | 33186354 | missense variant | C/T | snv | 0.12 | 9.4E-02 | 0.010 | 1.000 | 1 | 2014 | 2014 | |||
|
3 | 0.925 | 0.120 | 11 | 72221370 | intron variant | T/C | snv | 0.27 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
3 | 1.000 | 0.040 | 5 | 173232938 | synonymous variant | C/G | snv | 9.9E-03 | 2.2E-03 | 0.010 | 1.000 | 1 | 2019 | 2019 |