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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
614 | 0.330 | 0.920 | 1 | 11796309 | missense variant | A/G | snv | 4.0E-06 | 7.0E-06 | 0.020 | 1.000 | 2 | 2002 | 2008 | |||
|
4 | 1 | 1535766 | missense variant | C/T | snv | 0.010 | 1.000 | 1 | 2019 | 2019 | |||||||
|
4 | 0.882 | 0.080 | 1 | 247424356 | missense variant | G/A;C | snv | 0.010 | 1.000 | 1 | 2014 | 2014 | |||||
|
93 | 0.535 | 0.840 | 1 | 11794419 | missense variant | T/G | snv | 0.29 | 0.26 | 0.010 | 1.000 | 1 | 2017 | 2017 | |||
|
174 | 0.472 | 0.880 | 1 | 11796321 | missense variant | G/A | snv | 0.31 | 0.27 | 0.010 | 1.000 | 1 | 2017 | 2017 | |||
|
1 | 1 | 16048352 | missense variant | G/A | snv | 1.5E-04 | 7.7E-05 | 0.010 | 1.000 | 1 | 2014 | 2014 | |||||
|
121 | 0.498 | 0.800 | 1 | 113834946 | missense variant | A/G | snv | 0.93 | 0.93 | 0.010 | 1.000 | 1 | 2015 | 2015 | |||
|
306 | 0.405 | 0.880 | 1 | 11794407 | missense variant | T/G | snv | 0.010 | 1.000 | 1 | 2007 | 2007 | |||||
|
19 | 0.701 | 0.240 | 1 | 226885603 | missense variant | A/T | snv | 0.010 | 1.000 | 1 | 2017 | 2017 | |||||
|
12 | 0.763 | 0.120 | 1 | 11022352 | splice acceptor variant | G/A | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
19 | 0.807 | 0.280 | 1 | 26773716 | stop gained | C/G;T | snv | 0.700 | 0 | ||||||||
|
8 | 0.851 | 0.080 | 2 | 157774114 | missense variant | C/G;T | snv | 0.010 | 1.000 | 1 | 2012 | 2012 | |||||
|
3 | 0.925 | 0.080 | 2 | 166012179 | missense variant | T/G | snv | 0.010 | 1.000 | 1 | 2020 | 2020 | |||||
|
6 | 0.882 | 0.080 | 2 | 165313738 | frameshift variant | T/- | delins | 0.700 | 0 | ||||||||
|
2 | 1.000 | 0.040 | 3 | 11013652 | 5 prime UTR variant | A/G | snv | 0.35 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
2 | 1.000 | 0.040 | 3 | 11011556 | intron variant | T/C | snv | 0.25 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
73 | 0.572 | 0.520 | 3 | 38141150 | stop lost | T/C | snv | 5.2E-05 | 7.0E-06 | 0.010 | 1.000 | 1 | 2014 | 2014 | |||
|
2 | 1.000 | 0.040 | 3 | 10998753 | intron variant | G/T | snv | 0.31 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
59 | 0.614 | 0.360 | 4 | 89828149 | missense variant | C/T | snv | 0.040 | 1.000 | 4 | 2006 | 2018 | |||||
|
21 | 0.732 | 0.160 | 4 | 89835580 | missense variant | C/G | snv | 0.010 | 1.000 | 1 | 2011 | 2011 | |||||
|
19 | 0.851 | 0.200 | 4 | 45180510 | intergenic variant | A/G | snv | 0.37 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
27 | 0.776 | 0.160 | 4 | 101032294 | frameshift variant | -/AGTA | delins | 0.700 | 0 | ||||||||
|
2 | 1.000 | 0.040 | 5 | 170715913 | intron variant | C/G;T | snv | 0.21 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
11 | 0.807 | 0.120 | 5 | 1394407 | 3 prime UTR variant | C/A;T | snv | 0.010 | 1.000 | 1 | 2008 | 2008 | |||||
|
7 | 0.827 | 0.120 | 5 | 1393745 | 3 prime UTR variant | -/AGTGGGGGCCCTGCATGCGTCCTGGGGTAGTACACGCTCC | delins | 8.1E-06 | 0.010 | 1.000 | 1 | 2014 | 2014 |