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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
4 | 0.882 | 0.200 | 13 | 108210436 | missense variant | C/A;T | snv | 1.2E-05 | 0.700 | 0 | |||||||
|
13 | 0.763 | 0.320 | 7 | 6005918 | missense variant | C/A;T | snv | 1.6E-04; 8.1E-06 | 0.700 | 0 | |||||||
|
25 | 0.683 | 0.440 | 1 | 114716127 | missense variant | C/A;G;T | snv | 0.700 | 0 | ||||||||
|
4 | 0.851 | 0.120 | 2 | 47799002 | missense variant | T/C | snv | 3.6E-05 | 5.6E-05 | 0.700 | 0 | ||||||
|
1 | 1.000 | 0.040 | 9 | 21970990 | missense variant | A/G;T | snv | 2.9E-05; 3.0E-04 | 0.700 | 0 | |||||||
|
242 | 0.426 | 0.800 | 17 | 7676154 | missense variant | G/C;T | snv | 0.67 | 0.020 | < 0.001 | 2 | 2012 | 2016 | ||||
|
214 | 0.439 | 0.800 | 17 | 7676154 | frameshift variant | -/C | ins | 0.020 | < 0.001 | 2 | 2012 | 2016 | |||||
|
213 | 0.439 | 0.800 | 17 | 7676153 | missense variant | GG/AC | mnv | 0.020 | < 0.001 | 2 | 2012 | 2016 | |||||
|
2 | 0.925 | 0.040 | 2 | 200659013 | intron variant | A/G;T | snv | 0.010 | < 0.001 | 1 | 2014 | 2014 | |||||
|
10 | 0.776 | 0.240 | 8 | 92005229 | missense variant | C/A | snv | 7.0E-06 | 0.010 | < 0.001 | 1 | 2011 | 2011 | ||||
|
21 | 0.701 | 0.440 | 11 | 61792609 | 5 prime UTR variant | G/A | snv | 0.34 | 0.26 | 0.010 | < 0.001 | 1 | 2016 | 2016 | |||
|
45 | 0.620 | 0.560 | 17 | 18328782 | missense variant | G/A | snv | 0.27 | 0.31 | 0.010 | < 0.001 | 1 | 2014 | 2014 | |||
|
97 | 0.538 | 0.800 | 7 | 87531302 | missense variant | A/C;T | snv | 0.54; 3.8E-02 | 0.010 | < 0.001 | 1 | 2014 | 2014 | ||||
|
30 | 0.672 | 0.480 | 19 | 41006936 | missense variant | G/A;T | snv | 4.0E-06; 0.27 | 0.010 | < 0.001 | 1 | 2011 | 2011 | ||||
|
29 | 0.677 | 0.320 | 11 | 61796827 | 3 prime UTR variant | G/C;T | snv | 0.010 | < 0.001 | 1 | 2016 | 2016 | |||||
|
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 | |||
|
25 | 0.672 | 0.160 | 9 | 130872896 | missense variant | C/T | snv | 0.100 | 1.000 | 18 | 2004 | 2018 | |||||
|
187 | 0.458 | 0.760 | 9 | 5073770 | missense variant | G/A;T | snv | 3.5E-04 | 0.100 | 1.000 | 10 | 2006 | 2017 | ||||
|
614 | 0.330 | 0.920 | 1 | 11796309 | missense variant | A/G | snv | 4.0E-06 | 7.0E-06 | 0.070 | 1.000 | 7 | 2001 | 2016 | |||
|
54 | 0.595 | 0.640 | 14 | 104780214 | missense variant | C/T | snv | 4.0E-06 | 0.050 | 1.000 | 5 | 2007 | 2010 | ||||
|
490 | 0.351 | 0.840 | 7 | 140753336 | missense variant | A/C;G;T | snv | 4.0E-06 | 0.040 | 1.000 | 4 | 2011 | 2018 | ||||
|
480 | 0.354 | 0.840 | 7 | 140753335 | missense variant | CA/AT;TT | mnv | 0.040 | 1.000 | 4 | 2011 | 2018 | |||||
|
49 | 0.614 | 0.400 | 4 | 54733155 | missense variant | A/T | snv | 0.040 | 1.000 | 4 | 2007 | 2018 | |||||
|
52 | 0.605 | 0.400 | 4 | 54733167 | missense variant | A/G;T | snv | 0.040 | 1.000 | 4 | 2007 | 2018 | |||||
|
12 | 0.763 | 0.240 | 4 | 54733174 | missense variant | T/A;G | snv | 0.030 | 1.000 | 3 | 2011 | 2019 |