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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
2 | 0.925 | 0.080 | 17 | 65537563 | frameshift variant | -/CGCGGGAGGCAGC | delins | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.080 | 4 | 4863139 | frameshift variant | -/TA | delins | 0.010 | 1.000 | 1 | 2014 | 2014 | |||||
|
8 | 0.776 | 0.160 | 3 | 71414748 | intron variant | A/C;G | snv | 0.700 | 1.000 | 1 | 2018 | 2018 | |||||
|
2 | 0.925 | 0.080 | 17 | 65558307 | missense variant | A/C;G | snv | 0.010 | 1.000 | 1 | 2015 | 2015 | |||||
|
2 | 0.925 | 0.080 | 14 | 36666492 | missense variant | A/C;G | snv | 8.4E-06 | 0.010 | 1.000 | 1 | 2008 | 2008 | ||||
|
2 | 0.925 | 0.080 | 14 | 36663308 | missense variant | A/G | snv | 0.010 | 1.000 | 1 | 2014 | 2014 | |||||
|
10 | 0.763 | 0.200 | 2 | 218882368 | stop gained | C/A | snv | 6.2E-04 | 8.5E-04 | 0.010 | 1.000 | 1 | 2019 | 2019 | |||
|
8 | 0.776 | 0.160 | 2 | 88438931 | intergenic variant | C/A;T | snv | 0.700 | 1.000 | 1 | 2018 | 2018 | |||||
|
3 | 0.882 | 0.120 | 7 | 148827254 | missense variant | C/A;T | snv | 6.4E-05 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
6 | 0.882 | 0.120 | 12 | 106496115 | missense variant | C/A;T | snv | 4.0E-06 | 2.1E-05 | 0.700 | 0 | ||||||
|
6 | 0.807 | 0.200 | 17 | 65536472 | stop gained | C/G;T | snv | 0.020 | 1.000 | 2 | 2011 | 2015 | |||||
|
8 | 0.776 | 0.160 | 2 | 143201176 | intron variant | C/G;T | snv | 0.700 | 1.000 | 1 | 2018 | 2018 | |||||
|
2 | 0.925 | 0.080 | 4 | 4860247 | synonymous variant | C/G;T | snv | 4.8E-06; 6.8E-02 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
3 | 0.882 | 0.080 | 2 | 218893087 | missense variant | C/T | snv | 4.1E-05 | 7.0E-06 | 0.010 | 1.000 | 1 | 2017 | 2017 | |||
|
8 | 0.776 | 0.160 | 4 | 108350621 | TF binding site variant | C/T | snv | 0.21 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||
|
44 | 0.708 | 0.320 | X | 53647390 | missense variant | C/T | snv | 0.700 | 0 | ||||||||
|
32 | 0.708 | 0.520 | 7 | 70766248 | missense variant | C/T | snv | 0.700 | 0 | ||||||||
|
9 | 0.807 | 0.160 | 17 | 65536495 | stop gained | G/A | snv | 0.020 | 1.000 | 2 | 2004 | 2016 | |||||
|
11 | 0.742 | 0.160 | 2 | 218890244 | missense variant | G/A | snv | 2.1E-03 | 6.9E-04 | 0.010 | 1.000 | 1 | 2017 | 2017 | |||
|
3 | 0.882 | 0.080 | 2 | 218882358 | missense variant | G/A | snv | 2.4E-05 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
2 | 0.925 | 0.080 | 14 | 36662092 | start lost | G/A | snv | 0.700 | 0 | ||||||||
|
4 | 0.925 | 0.040 | 1 | 145977482 | splice acceptor variant | G/A | snv | 0.700 | 0 | ||||||||
|
4 | 0.925 | 0.040 | 1 | 145974824 | splice acceptor variant | G/A | snv | 2.3E-05 | 1.4E-05 | 0.700 | 0 | ||||||
|
3 | 0.882 | 0.080 | 14 | 36662975 | missense variant | G/A;C | snv | 0.010 | 1.000 | 1 | 2004 | 2004 | |||||
|
4 | 0.851 | 0.080 | 7 | 41966080 | missense variant | G/A;C | snv | 0.43; 5.7E-06 | 0.010 | 1.000 | 1 | 2013 | 2013 |