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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
6 | 0.882 | 0.080 | 2 | 165313738 | frameshift variant | T/- | delins | 0.700 | 0 | ||||||||
|
7 | 0.851 | 0.080 | X | 24503479 | missense variant | G/A | snv | 0.020 | 1.000 | 2 | 2013 | 2016 | |||||
|
7 | 0.851 | 0.120 | 10 | 87057692 | missense variant | G/A;C | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
7 | 0.827 | 0.080 | 21 | 31667274 | missense variant | G/A;C | snv | 0.010 | 1.000 | 1 | 2014 | 2014 | |||||
|
7 | 0.827 | 0.120 | 5 | 1393745 | 3 prime UTR variant | -/AGTGGGGGCCCTGCATGCGTCCTGGGGTAGTACACGCTCC | delins | 8.1E-06 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
7 | 0.851 | 0.120 | 17 | 46010373 | missense variant | A/C | snv | 0.010 | 1.000 | 1 | 2017 | 2017 | |||||
|
8 | 0.851 | 0.080 | 2 | 157774114 | missense variant | C/G;T | snv | 0.010 | 1.000 | 1 | 2012 | 2012 | |||||
|
8 | 0.882 | 0.160 | 6 | 34335092 | intron variant | A/G | snv | 0.34 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
10 | 0.827 | 0.120 | 11 | 2169802 | missense variant | C/T | snv | 0.010 | 1.000 | 1 | 2018 | 2018 | |||||
|
10 | 0.790 | 0.400 | 12 | 109596515 | missense variant | G/A | snv | 1.6E-03 | 1.5E-03 | 0.010 | 1.000 | 1 | 2016 | 2016 | |||
|
10 | 0.790 | 0.120 | 20 | 10306436 | 3 prime UTR variant | G/T | snv | 0.68 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
10 | 0.925 | 0.120 | 8 | 43192413 | stop gained | C/T | snv | 0.700 | 0 | ||||||||
|
11 | 0.763 | 0.120 | 21 | 26051171 | missense variant | T/A;C | snv | 1.2E-05 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
11 | 0.790 | 0.160 | 11 | 113475529 | intron variant | -/G | delins | 0.010 | 1.000 | 1 | 2014 | 2014 | |||||
|
11 | 0.807 | 0.120 | 5 | 1394407 | 3 prime UTR variant | C/A;T | snv | 0.010 | 1.000 | 1 | 2008 | 2008 | |||||
|
11 | 0.807 | 0.160 | 13 | 46835532 | missense variant | C/A;T | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2006 | 2006 | ||||
|
12 | 0.790 | 0.160 | 10 | 111076745 | upstream gene variant | G/C | snv | 0.59 | 0.010 | 1.000 | 1 | 2010 | 2010 | ||||
|
12 | 0.776 | 0.160 | 11 | 113414814 | intron variant | C/A | snv | 0.16 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
12 | 0.763 | 0.120 | 1 | 11022352 | splice acceptor variant | G/A | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
12 | 0.851 | 0.080 | 16 | 57654103 | frameshift variant | CAGGACC/- | delins | 0.700 | 0 | ||||||||
|
13 | 0.776 | 0.200 | 17 | 39723967 | missense variant | T/C;G | snv | 0.010 | 1.000 | 1 | 2019 | 2019 | |||||
|
13 | 0.827 | 0.120 | 9 | 21971191 | missense variant | G/A;C;T | snv | 9.1E-06; 4.5E-06 | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||
|
13 | 0.827 | 0.160 | 17 | 44212851 | missense variant | C/T | snv | 0.700 | 0 | ||||||||
|
14 | 0.742 | 0.200 | 6 | 111592059 | missense variant | C/T | snv | 8.6E-02 | 9.7E-02 | 0.010 | 1.000 | 1 | 2014 | 2014 | |||
|
14 | 0.790 | 0.160 | X | 154030948 | stop gained | G/A;C | snv | 1.6E-05 | 0.010 | 1.000 | 1 | 2011 | 2011 |