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 | 5986802 | missense variant | C/T | snv | 7.0E-06 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||||
|
2 | 7 | 55143404 | missense variant | G/A | snv | 7.0E-06 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||||
|
2 | 5 | 112767386 | missense variant | G/A | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||||
|
4 | 7 | 55172999 | missense variant | A/C;G | snv | 4.0E-05 | 2.4E-04 | 0.010 | 1.000 | 1 | 2017 | 2017 | |||||
|
4 | 5 | 112839334 | missense variant | C/T | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||||
|
1 | 14 | 96587587 | upstream gene variant | C/T | snv | 5.1E-02 | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||||
|
1 | 15 | 51332881 | intron variant | C/T | snv | 0.21 | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||||
|
4 | 7 | 55205613 | missense variant | C/T | snv | 3.1E-04 | 3.3E-04 | 0.010 | 1.000 | 1 | 2017 | 2017 | |||||
|
2 | 20 | 43657322 | downstream gene variant | C/G | snv | 0.77 | 0.010 | 1.000 | 1 | 2010 | 2010 | ||||||
|
2 | 7 | 151776093 | intron variant | T/C | snv | 0.19 | 0.010 | 1.000 | 1 | 2010 | 2010 | ||||||
|
2 | 13 | 28439277 | intron variant | G/A;C | snv | 0.010 | 1.000 | 1 | 2014 | 2014 | |||||||
|
1 | 20 | 60847915 | intergenic variant | C/T | snv | 0.13 | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||||
|
1 | 7 | 5977698 | missense variant | C/T | snv | 8.0E-06 | 1.4E-05 | 0.010 | 1.000 | 1 | 2015 | 2015 | |||||
|
2 | 7 | 151654146 | intron variant | T/C | snv | 0.31 | 0.010 | 1.000 | 1 | 2010 | 2010 | ||||||
|
1 | 7 | 6004023 | missense variant | C/T | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||||
|
2 | 13 | 28057413 | missense variant | C/G;T | snv | 1.2E-05; 4.0E-06 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||||
|
1 | 7 | 5989800 | missense variant | C/G;T | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||||
|
1 | 7 | 5987540 | missense variant | C/G | snv | 1.2E-05 | 1.4E-05 | 0.010 | 1.000 | 1 | 2015 | 2015 | |||||
|
4 | 5 | 112838608 | missense variant | C/T | snv | 0.010 | 1.000 | 1 | 2017 | 2017 | |||||||
|
614 | 0.330 | 0.920 | 1 | 11796309 | missense variant | A/G | snv | 4.0E-06 | 7.0E-06 | 0.010 | 1.000 | 1 | 2005 | 2005 | |||
|
490 | 0.351 | 0.840 | 7 | 140753336 | missense variant | A/C;G;T | snv | 4.0E-06 | 0.770 | 0.875 | 8 | 2003 | 2017 | ||||
|
480 | 0.354 | 0.840 | 7 | 140753335 | missense variant | CA/AT;TT | mnv | 0.770 | 0.875 | 8 | 2003 | 2017 | |||||
|
306 | 0.405 | 0.880 | 1 | 11794407 | missense variant | T/G | snv | 0.010 | 1.000 | 1 | 2005 | 2005 | |||||
|
214 | 0.456 | 0.840 | 7 | 87509329 | synonymous variant | A/G;T | snv | 0.50 | 0.010 | < 0.001 | 1 | 2008 | 2008 | ||||
|
144 | 0.492 | 0.680 | 12 | 25245350 | missense variant | C/A;G;T | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2016 | 2016 |