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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
42 | 0.630 | 0.680 | 3 | 52222681 | synonymous variant | C/A;G;T | snv | 2.0E-05; 0.49 | 0.020 | 1.000 | 2 | 2014 | 2019 | ||||
|
2 | 5 | 24064827 | intron variant | T/C;G | snv | 0.700 | 1.000 | 1 | 2015 | 2015 | |||||||
|
8 | 0.925 | 3 | 46410189 | intron variant | A/C;G;T | snv | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||||
|
242 | 0.426 | 0.800 | 17 | 7676154 | missense variant | G/C;T | snv | 0.67 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
2 | 11 | 123093392 | intron variant | A/C;G;T | snv | 0.700 | 1.000 | 1 | 2015 | 2015 | |||||||
|
4 | 2 | 233755003 | splice region variant | C/G;T | snv | 0.48 | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||||
|
1 | 20 | 14931037 | intron variant | G/A;C | snv | 0.700 | 1.000 | 1 | 2017 | 2017 | |||||||
|
2 | 11 | 56597931 | non coding transcript exon variant | G/A;C | snv | 0.700 | 1.000 | 1 | 2015 | 2015 | |||||||
|
1 | 17 | 58522103 | splice acceptor variant | T/A | snv | 0.700 | 1.000 | 1 | 2015 | 2015 | |||||||
|
214 | 0.439 | 0.800 | 17 | 7676154 | frameshift variant | -/C | ins | 0.010 | 1.000 | 1 | 2014 | 2014 | |||||
|
4 | 2 | 233755414 | non coding transcript exon variant | G/A;T | snv | 0.700 | 1.000 | 1 | 2015 | 2015 | |||||||
|
79 | 0.550 | 0.720 | 12 | 68839311 | missense variant | C/G | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
2 | 11 | 123055777 | downstream gene variant | T/A;C | snv | 0.700 | 1.000 | 1 | 2015 | 2015 | |||||||
|
1 | 9 | 14841389 | intron variant | C/A;G | snv | 0.010 | 1.000 | 1 | 2012 | 2012 | |||||||
|
2 | 5 | 24072508 | intron variant | C/G;T | snv | 0.700 | 1.000 | 1 | 2015 | 2015 | |||||||
|
2 | 8 | 1203198 | intron variant | G/A;C | snv | 0.700 | 1.000 | 1 | 2015 | 2015 | |||||||
|
31 | 0.653 | 0.600 | 2 | 218395009 | missense variant | G/A;C | snv | 4.9E-02; 4.1E-06 | 0.010 | 1.000 | 1 | 2002 | 2002 | ||||
|
2 | 1.000 | 0.040 | 1 | 206842612 | missense variant | T/C;G | snv | 0.71; 5.5E-06 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
1 | 17 | 57885718 | 5 prime UTR variant | A/G;T | snv | 0.700 | 1.000 | 1 | 2015 | 2015 | |||||||
|
1 | 3 | 39332411 | missense variant | C/A;G;T | snv | 4.0E-06; 0.21; 2.8E-05 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||||
|
1 | 4 | 100649444 | intron variant | G/C;T | snv | 0.700 | 1.000 | 1 | 2015 | 2015 | |||||||
|
1 | 5 | 11047569 | intron variant | T/A;G | snv | 0.700 | 1.000 | 1 | 2017 | 2017 | |||||||
|
2 | 8 | 1206131 | intron variant | G/A;C;T | snv | 0.700 | 1.000 | 1 | 2015 | 2015 | |||||||
|
19 | 0.701 | 0.520 | 1 | 23875429 | missense variant | TT/CC | mnv | 0.010 | 1.000 | 1 | 2018 | 2018 | |||||
|
15 | 0.742 | 0.280 | 19 | 39248514 | frameshift variant | TT/G;T | delins | 0.010 | 1.000 | 1 | 2014 | 2014 |