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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
614 | 0.330 | 0.920 | 1 | 11796309 | missense variant | A/G | snv | 4.0E-06 | 7.0E-06 | 0.100 | 0.903 | 31 | 1997 | 2015 | |||
|
43 | 0.637 | 0.560 | 1 | 169549811 | missense variant | C/T | snv | 1.8E-02 | 0.900 | 1.000 | 16 | 1997 | 2019 | ||||
|
65 | 0.574 | 0.680 | 1 | 169546513 | missense variant | T/C | snv | 4.0E-06 | 0.100 | 1.000 | 10 | 1999 | 2019 | ||||
|
3 | 0.925 | 0.120 | 1 | 173917078 | intron variant | C/T | snv | 9.6E-02 | 0.030 | 1.000 | 3 | 2013 | 2019 | ||||
|
4 | 1 | 169522317 | intron variant | G/A | snv | 0.95 | 0.700 | 1.000 | 3 | 2009 | 2012 | ||||||
|
3 | 1 | 169542517 | missense variant | T/C | snv | 0.28 | 0.24 | 0.710 | 1.000 | 3 | 2015 | 2019 | |||||
|
3 | 1.000 | 0.080 | 1 | 169511985 | 3 prime UTR variant | C/G;T | snv | 0.800 | 1.000 | 3 | 2011 | 2013 | |||||
|
2 | 1 | 169544768 | intron variant | A/G | snv | 0.92 | 0.800 | 1.000 | 2 | 2011 | 2012 | ||||||
|
2 | 1 | 169506814 | intergenic variant | A/G | snv | 0.93 | 0.700 | 1.000 | 2 | 2011 | 2012 | ||||||
|
2 | 1 | 169459706 | intron variant | C/T | snv | 0.93 | 0.700 | 1.000 | 2 | 2011 | 2012 | ||||||
|
2 | 1 | 169454860 | intron variant | A/G;T | snv | 0.700 | 1.000 | 2 | 2011 | 2012 | |||||||
|
2 | 1 | 169327626 | intron variant | C/G;T | snv | 0.700 | 1.000 | 2 | 2011 | 2012 | |||||||
|
2 | 1 | 169165889 | intron variant | A/C | snv | 5.5E-02 | 0.800 | 1.000 | 2 | 2011 | 2012 | ||||||
|
2 | 1 | 169498416 | non coding transcript exon variant | G/A | snv | 0.98 | 0.700 | 1.000 | 2 | 2011 | 2012 | ||||||
|
1 | 1 | 169521154 | intron variant | G/C | snv | 0.95 | 0.700 | 1.000 | 2 | 2011 | 2012 | ||||||
|
2 | 1 | 169528818 | intron variant | A/G | snv | 0.95 | 0.700 | 1.000 | 2 | 2011 | 2012 | ||||||
|
1 | 1 | 207108804 | intron variant | C/A;G | snv | 0.12 | 0.700 | 1.000 | 2 | 2019 | 2019 | ||||||
|
3 | 0.925 | 0.200 | 1 | 94530506 | missense variant | C/T | snv | 6.5E-03 | 1.0E-02 | 0.020 | 1.000 | 2 | 2015 | 2017 | |||
|
306 | 0.405 | 0.880 | 1 | 11794407 | missense variant | T/G | snv | 0.020 | 1.000 | 2 | 2003 | 2013 | |||||
|
3 | 1.000 | 0.080 | 1 | 169529596 | intron variant | T/A;C | snv | 0.94 | 0.700 | 1.000 | 2 | 2011 | 2012 | ||||
|
17 | 0.752 | 0.440 | 1 | 169594713 | missense variant | T/G | snv | 8.2E-02 | 7.5E-02 | 0.020 | 1.000 | 2 | 2007 | 2008 | |||
|
2 | 1 | 169511883 | downstream gene variant | T/A | snv | 0.91 | 0.700 | 1.000 | 2 | 2011 | 2012 | ||||||
|
2 | 1 | 169511938 | downstream gene variant | A/C;T | snv | 0.700 | 1.000 | 2 | 2011 | 2012 | |||||||
|
2 | 1 | 169531352 | intron variant | C/A | snv | 0.92 | 0.700 | 1.000 | 2 | 2011 | 2012 | ||||||
|
2 | 1 | 169508336 | downstream gene variant | A/C | snv | 0.93 | 0.700 | 1.000 | 2 | 2011 | 2012 |