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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
35 | 0.641 | 0.520 | 1 | 114713907 | missense variant | TT/CA;CC | mnv | 0.010 | 1.000 | 1 | 2018 | 2018 | |||||
|
31 | 0.658 | 0.480 | 1 | 114713908 | missense variant | TG/CT | mnv | 0.010 | 1.000 | 1 | 2018 | 2018 | |||||
|
59 | 0.583 | 0.600 | 1 | 114713908 | missense variant | T/A;C;G | snv | 0.010 | 1.000 | 1 | 2018 | 2018 | |||||
|
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 | |||
|
14 | 0.763 | 0.240 | 2 | 29220831 | missense variant | A/C;G;T | snv | 0.010 | 1.000 | 1 | 2012 | 2012 | |||||
|
12 | 0.776 | 0.200 | 2 | 29220829 | missense variant | G/C;T | snv | 0.010 | 1.000 | 1 | 2012 | 2012 | |||||
|
60 | 0.570 | 0.480 | 3 | 14145949 | missense variant | G/T | snv | 0.63 | 0.65 | 0.020 | 1.000 | 2 | 2004 | 2012 | |||
|
147 | 0.476 | 0.800 | 3 | 9757089 | missense variant | C/G | snv | 0.27 | 0.22 | 0.010 | 1.000 | 1 | 2012 | 2012 | |||
|
1 | 3 | 14167204 | missense variant | G/A | snv | 4.1E-06 | 1.4E-05 | 0.010 | 1.000 | 1 | 2004 | 2004 | |||||
|
1 | 3 | 14146063 | frameshift variant | CCAGTATCCTGGCC/- | del | 7.0E-06 | 0.010 | 1.000 | 1 | 2004 | 2004 | ||||||
|
1 | 3 | 14147981 | frameshift variant | GACGATGTATCCA/- | delins | 0.010 | 1.000 | 1 | 2004 | 2004 | |||||||
|
1 | 3 | 14170483 | missense variant | T/G | snv | 5.2E-05 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||||
|
1 | 3 | 14178554 | synonymous variant | G/A;C | snv | 1.2E-05 | 7.0E-06 | 0.010 | 1.000 | 1 | 2004 | 2004 | |||||
|
1 | 3 | 14178562 | missense variant | G/A;C | snv | 1.2E-05 | 0.010 | 1.000 | 1 | 2004 | 2004 | ||||||
|
10 | 0.827 | 0.120 | 5 | 1294051 | missense variant | C/T | snv | 2.2E-02 | 2.2E-02 | 0.010 | 1.000 | 1 | 2014 | 2014 | |||
|
1 | 5 | 15555377 | intron variant | G/T | snv | 0.55 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||||
|
490 | 0.351 | 0.840 | 7 | 140753336 | missense variant | A/C;G;T | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
480 | 0.354 | 0.840 | 7 | 140753335 | missense variant | CA/AT;TT | mnv | 0.010 | 1.000 | 1 | 2012 | 2012 | |||||
|
157 | 0.485 | 0.840 | 7 | 95308134 | missense variant | T/C | snv | 0.38 | 0.42 | 0.010 | 1.000 | 1 | 2019 | 2019 | |||
|
3 | 8 | 47960120 | missense variant | C/T | snv | 9.7E-06 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||||
|
1 | 8 | 72005483 | intron variant | T/C | snv | 0.58 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||||
|
10 | 0.776 | 0.240 | 8 | 92005229 | missense variant | C/A | snv | 7.0E-06 | 0.010 | < 0.001 | 1 | 2011 | 2011 | ||||
|
23 | 0.701 | 0.280 | 8 | 89978293 | missense variant | T/C;G | snv | 1.2E-03 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
10 | 0.776 | 0.240 | 8 | 92005280 | synonymous variant | C/A | snv | 4.0E-06 | 2.8E-05 | 0.010 | < 0.001 | 1 | 2011 | 2011 | |||
|
187 | 0.458 | 0.760 | 9 | 5073770 | missense variant | G/A;T | snv | 3.5E-04 | 0.040 | 1.000 | 4 | 2011 | 2015 |