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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
37 | 0.623 | 0.600 | 16 | 28507775 | intron variant | T/C | snv | 0.43 | 0.020 | 1.000 | 2 | 2013 | 2016 | ||||
|
34 | 0.637 | 0.600 | 1 | 67168129 | missense variant | G/T | snv | 0.52 | 0.51 | 0.020 | 0.500 | 2 | 2013 | 2016 | |||
|
6 | 0.827 | 0.160 | 10 | 44376100 | intron variant | G/A;T | snv | 0.21 | 0.020 | 1.000 | 2 | 2013 | 2016 | ||||
|
16 | 0.716 | 0.480 | 1 | 23875430 | missense variant | T/C;G | snv | 0.62 | 0.020 | 1.000 | 2 | 2011 | 2013 | ||||
|
19 | 0.701 | 0.520 | 1 | 23875429 | missense variant | TT/CC | mnv | 0.020 | 1.000 | 2 | 2011 | 2013 | |||||
|
87 | 0.531 | 0.720 | 6 | 52236941 | missense variant | T/C | snv | 6.7E-02 | 6.6E-02 | 0.020 | 1.000 | 2 | 2017 | 2019 | |||
|
14 | 0.732 | 0.480 | 1 | 23875429 | frameshift variant | TT/C;T | delins | 0.020 | 1.000 | 2 | 2011 | 2013 | |||||
|
10 | 0.752 | 0.400 | 6 | 137681500 | intron variant | C/T | snv | 0.24 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
15 | 0.732 | 0.440 | 1 | 161674008 | missense variant | T/C | snv | 0.16 | 0.19 | 0.010 | < 0.001 | 1 | 2019 | 2019 | |||
|
40 | 0.627 | 0.720 | 1 | 67259437 | 3 prime UTR variant | C/A | snv | 0.27 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
10 | 0.752 | 0.400 | 1 | 67274409 | upstream gene variant | G/A | snv | 0.30 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
1 | 1.000 | 0.120 | 13 | 108303360 | missense variant | G/A | snv | 7.0E-06 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
7 | 0.807 | 0.440 | 1 | 161543085 | missense variant | G/A | snv | 4.0E-06 | 0.010 | < 0.001 | 1 | 2019 | 2019 | ||||
|
31 | 0.708 | 0.320 | 6 | 35639794 | intron variant | T/A;C | snv | 0.010 | 1.000 | 1 | 2012 | 2012 | |||||
|
1 | 1.000 | 0.120 | 17 | 16948957 | missense variant | C/A;T | snv | 8.0E-06; 1.9E-04 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
2 | 1.000 | 0.120 | 2 | 191015776 | intron variant | C/G;T | snv | 0.010 | 1.000 | 1 | 2015 | 2015 | |||||
|
107 | 0.515 | 0.840 | 19 | 41353016 | missense variant | G/A;C | snv | 0.55; 2.4E-04 | 0.010 | < 0.001 | 1 | 2003 | 2003 | ||||
|
48 | 0.597 | 0.840 | 19 | 41352971 | missense variant | C/G;T | snv | 5.6E-02 | 0.010 | < 0.001 | 1 | 2003 | 2003 | ||||
|
46 | 0.597 | 0.800 | 1 | 161509955 | missense variant | A/C;G | snv | 4.0E-06; 0.48 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
16 | 0.742 | 0.440 | 16 | 28502082 | missense variant | A/G | snv | 0.28 | 0.24 | 0.010 | 1.000 | 1 | 2016 | 2016 | |||
|
52 | 0.581 | 0.680 | 20 | 46118343 | 5 prime UTR variant | T/C | snv | 0.75 | 0.80 | 0.010 | < 0.001 | 1 | 2017 | 2017 | |||
|
11 | 0.742 | 0.400 | 1 | 161626196 | missense variant | C/A;G;T | snv | 1.5E-03; 1.2E-05; 4.0E-06 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
27 | 0.662 | 0.440 | 6 | 137874929 | missense variant | T/C;G | snv | 4.0E-06; 5.4E-02 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
18 | 0.708 | 0.440 | 20 | 32786453 | intron variant | C/T | snv | 0.56 | 0.53 | 0.010 | 1.000 | 1 | 2016 | 2016 | |||
|
50 | 0.590 | 0.760 | 12 | 68158742 | intron variant | T/A | snv | 0.36 | 0.010 | < 0.001 | 1 | 2019 | 2019 |