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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
490 | 0.351 | 0.840 | 7 | 140753336 | missense variant | A/C;G;T | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
480 | 0.354 | 0.840 | 7 | 140753335 | missense variant | CA/AT;TT | mnv | 0.010 | 1.000 | 1 | 2016 | 2016 | |||||
|
28 | 0.653 | 0.600 | 6 | 31576786 | synonymous variant | G/A | snv | 1.6E-05 | 1.4E-05 | 0.010 | 1.000 | 1 | 2007 | 2007 | |||
|
24 | 0.677 | 0.320 | 4 | 54733154 | missense variant | G/A;C;T | snv | 0.010 | 1.000 | 1 | 1999 | 1999 | |||||
|
22 | 0.695 | 0.280 | 4 | 54733166 | missense variant | G/C;T | snv | 0.010 | 1.000 | 1 | 1999 | 1999 | |||||
|
8 | 0.807 | 0.280 | 13 | 32340757 | frameshift variant | CTTAA/- | delins | 4.2E-06 | 1.4E-05 | 0.700 | 0 | ||||||
|
7 | 0.827 | 0.240 | 7 | 1087023 | 5 prime UTR variant | G/A | snv | 0.29 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
3 | 0.882 | 0.120 | 21 | 33415009 | synonymous variant | G/A | snv | 4.0E-06 | 7.0E-06 | 0.010 | 1.000 | 1 | 2007 | 2007 | |||
|
6 | 0.882 | 0.080 | 7 | 1086257 | intron variant | A/G;T | snv | 0.010 | 1.000 | 1 | 2014 | 2014 | |||||
|
3 | 0.925 | 0.120 | 2 | 48712814 | intron variant | T/C | snv | 0.12 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
1 | 1.000 | 0.040 | 16 | 84176003 | missense variant | C/T | snv | 9.8E-03 | 1.1E-02 | 0.010 | 1.000 | 1 | 2013 | 2013 | |||
|
2 | 1.000 | 0.040 | 6 | 152059380 | intron variant | C/T | snv | 0.22 | 0.010 | 1.000 | 1 | 2012 | 2012 |