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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
9 | 0.807 | 0.120 | 10 | 121517460 | missense variant | C/A;T | snv | 2.4E-05 | 0.700 | 0 | |||||||
|
15 | 0.851 | 0.200 | 6 | 78958551 | stop gained | G/A | snv | 0.700 | 0 | ||||||||
|
59 | 0.658 | 0.360 | 9 | 83975540 | non coding transcript exon variant | T/C | snv | 0.700 | 0 | ||||||||
|
58 | 0.683 | 0.640 | 9 | 137798823 | missense variant | G/T | snv | 0.700 | 0 | ||||||||
|
19 | 0.851 | 0.280 | 16 | 89280526 | frameshift variant | -/T | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.040 | 10 | 24596856 | splice acceptor variant | C/T | snv | 5.2E-03 | 2.2E-02 | 0.010 | 1.000 | 1 | 2015 | 2015 | |||
|
3 | 0.882 | 0.120 | 8 | 38411996 | 3 prime UTR variant | T/C | snv | 0.23 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
1 | 1.000 | 0.040 | 8 | 17002089 | 5 prime UTR variant | G/A;C | snv | 0.010 | 1.000 | 1 | 2017 | 2017 | |||||
|
2 | 0.925 | 0.080 | 12 | 47999743 | non coding transcript exon variant | G/A | snv | 0.53 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
2 | 0.925 | 0.040 | 10 | 121592622 | intron variant | C/T | snv | 0.57 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
1 | 1.000 | 0.040 | 21 | 26833110 | downstream gene variant | C/G | snv | 0.90 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
1 | 1.000 | 0.040 | 21 | 26836585 | 3 prime UTR variant | C/A | snv | 7.7E-02 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
2 | 0.925 | 0.040 | 15 | 49485006 | 3 prime UTR variant | T/- | del | 8.4E-05 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
2 | 0.925 | 0.120 | 12 | 109445569 | missense variant | T/C;G | snv | 0.64; 1.1E-04 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
1 | 1.000 | 0.040 | 1 | 29071278 | 3 prime UTR variant | A/G | snv | 9.2E-03 | 0.010 | 1.000 | 1 | 2010 | 2010 | ||||
|
1 | 1.000 | 0.040 | 9 | 18636011 | missense variant | C/G | snv | 1.9E-04 | 5.6E-05 | 0.010 | 1.000 | 1 | 2019 | 2019 | |||
|
3 | 0.882 | 0.120 | 5 | 42718826 | missense variant | G/T | snv | 4.0E-02 | 1.5E-02 | 0.010 | 1.000 | 1 | 2014 | 2014 | |||
|
1 | 1.000 | 0.040 | 5 | 42719242 | missense variant | C/A | snv | 4.0E-02 | 1.5E-02 | 0.010 | 1.000 | 1 | 2014 | 2014 | |||
|
1 | 1.000 | 0.040 | 3 | 192170665 | intron variant | A/G | snv | 0.13 | 0.010 | 1.000 | 1 | 2017 | 2017 |