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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
13 | 0.742 | 0.320 | 16 | 2046238 | stop gained | G/A | snv | 1.4E-03 | 1.4E-03 | 0.700 | 0 | ||||||
|
8 | 0.807 | 0.360 | 13 | 32340890 | frameshift variant | -/A;NNNNNNNN | ins | 4.1E-06 | 0.700 | 0 | |||||||
|
205 | 0.441 | 0.800 | 19 | 43551574 | missense variant | T/C | snv | 0.68 | 0.71 | 0.030 | 1.000 | 3 | 2014 | 2016 | |||
|
24 | 0.683 | 0.400 | 2 | 38075034 | missense variant | C/A | snv | 0.32 | 0.35 | 0.020 | 1.000 | 2 | 2014 | 2015 | |||
|
62 | 0.572 | 0.640 | 19 | 45420395 | synonymous variant | A/G | snv | 0.50 | 0.55 | 0.020 | 1.000 | 2 | 2014 | 2014 | |||
|
134 | 0.487 | 0.760 | 19 | 45351661 | stop gained | T/A;G | snv | 4.0E-06; 0.32 | 0.020 | 1.000 | 2 | 2014 | 2016 | ||||
|
52 | 0.597 | 0.560 | 13 | 102875652 | missense variant | G/C | snv | 0.28 | 0.30 | 0.020 | 1.000 | 2 | 2014 | 2014 | |||
|
104 | 0.519 | 0.680 | 14 | 103699416 | missense variant | G/A | snv | 0.29 | 0.30 | 0.020 | 1.000 | 2 | 2015 | 2016 | |||
|
2 | 0.925 | 0.160 | 8 | 123753462 | intergenic variant | A/G | snv | 0.56 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
242 | 0.426 | 0.800 | 17 | 7676154 | missense variant | G/C;T | snv | 0.67 | 0.010 | 1.000 | 1 | 2009 | 2009 | ||||
|
88 | 0.533 | 0.720 | 15 | 74720644 | missense variant | T/A;C;G | snv | 0.11 | 5.9E-02 | 0.010 | 1.000 | 1 | 2016 | 2016 | |||
|
58 | 0.581 | 0.680 | 2 | 38071060 | missense variant | G/C | snv | 0.51 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
3 | 0.925 | 0.160 | 10 | 103913084 | intron variant | G/A | snv | 0.44 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
214 | 0.439 | 0.800 | 17 | 7676154 | frameshift variant | -/C | ins | 0.010 | 1.000 | 1 | 2009 | 2009 | |||||
|
9 | 0.807 | 0.200 | 3 | 133601021 | 3 prime UTR variant | G/A | snv | 5.8E-03 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
1 | 1.000 | 0.120 | 10 | 6025837 | missense variant | A/T | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 1994 | 1994 | ||||
|
83 | 0.570 | 0.560 | 4 | 99318162 | missense variant | T/C;G | snv | 0.90 | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||
|
2 | 0.925 | 0.160 | 10 | 103909864 | intron variant | T/A;C | snv | 0.010 | 1.000 | 1 | 2019 | 2019 | |||||
|
5 | 0.827 | 0.280 | 14 | 95090410 | 3 prime UTR variant | A/T | snv | 0.85 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
15 | 0.742 | 0.160 | 6 | 36655123 | regulatory region variant | C/A | snv | 0.28 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
1 | 1.000 | 0.120 | 19 | 1632076 | missense variant | C/G | snv | 7.0E-06 | 0.010 | 1.000 | 1 | 1994 | 1994 | ||||
|
1 | 1.000 | 0.120 | 7 | 102111708 | missense variant | G/A | snv | 3.2E-05 | 1.3E-04 | 0.010 | 1.000 | 1 | 1994 | 1994 | |||
|
19 | 0.716 | 0.360 | 6 | 52187772 | missense variant | A/G | snv | 8.0E-06 | 7.0E-06 | 0.010 | 1.000 | 1 | 2017 | 2017 | |||
|
12 | 0.752 | 0.160 | 10 | 116727589 | intron variant | T/C | snv | 0.69 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
151 | 0.474 | 0.800 | 19 | 43553422 | missense variant | G/A | snv | 9.5E-02 | 7.0E-02 | 0.010 | 1.000 | 1 | 2016 | 2016 |