| 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 | 7 | 99930354 | intron variant | G/A | snv | 0.30 | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||||
|
2 | 1 | 97221459 | intron variant | C/T | snv | 0.41 | 0.010 | 1.000 | 1 | 2010 | 2010 | ||||||
|
2 | 7 | 96096624 | intron variant | A/G | snv | 0.20 | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||||
|
22 | 0.724 | 0.400 | 15 | 89323426 | missense variant | C/G | snv | 9.7E-04 | 7.9E-04 | 0.010 | 1.000 | 1 | 2008 | 2008 | |||
|
7 | 0.882 | 0.200 | 3 | 8733956 | missense variant | G/A;C | snv | 0.010 | 1.000 | 1 | 2010 | 2010 | |||||
|
3 | 1.000 | 0.120 | 11 | 85654139 | stop gained | C/T | snv | 3.2E-05 | 1.4E-05 | 0.010 | 1.000 | 1 | 2012 | 2012 | |||
|
2 | 16 | 83591958 | intron variant | A/C | snv | 0.68 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||||
|
3 | 0.925 | 0.080 | 8 | 81444935 | missense variant | A/T | snv | 0.700 | 1.000 | 1 | 2015 | 2015 | |||||
|
2 | 1.000 | 8 | 81444908 | missense variant | A/G | snv | 0.700 | 0 | |||||||||
|
2 | 5 | 79890115 | intergenic variant | T/C | snv | 0.21 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||||
|
3 | 1.000 | 0.040 | 7 | 76304100 | missense variant | C/T | snv | 0.010 | 1.000 | 1 | 2010 | 2010 | |||||
|
4 | 0.925 | 0.080 | 7 | 76303841 | missense variant | C/A;G;T | snv | 0.010 | 1.000 | 1 | 2015 | 2015 | |||||
|
9 | 0.807 | 0.440 | 12 | 7202274 | frameshift variant | -/A | delins | 0.700 | 1.000 | 1 | 2015 | 2015 | |||||
|
4 | 0.925 | 0.080 | X | 71223973 | missense variant | T/C | snv | 0.010 | 1.000 | 1 | 2016 | 2016 | |||||
|
7 | 0.851 | 0.200 | 12 | 6870074 | missense variant | G/A | snv | 0.700 | 0 | ||||||||
|
188 | 0.457 | 0.880 | 11 | 67585218 | missense variant | A/G | snv | 0.34 | 0.36 | 0.010 | 1.000 | 1 | 2009 | 2009 | |||
|
7 | 0.851 | 0.120 | 5 | 609978 | intron variant | C/T | snv | 0.32 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
3 | 1.000 | 0.120 | 12 | 57471538 | missense variant | G/A | snv | 0.50 | 0.48 | 0.010 | 1.000 | 1 | 2010 | 2010 | |||
|
2 | 12 | 57459370 | non coding transcript exon variant | G/A;C | snv | 0.010 | 1.000 | 1 | 2010 | 2010 | |||||||
|
2 | 7 | 55161592 | missense variant | G/A | snv | 1.2E-05 | 0.010 | 1.000 | 1 | 2010 | 2010 | ||||||
|
2 | 18 | 52420925 | intron variant | A/G;T | snv | 0.010 | 1.000 | 1 | 2018 | 2018 | |||||||
|
4 | 0.925 | 0.120 | 22 | 50527606 | missense variant | T/G | snv | 8.0E-06 | 0.700 | 0 | |||||||
|
4 | 0.925 | 0.120 | 22 | 50527165 | inframe deletion | AGC/- | delins | 0.700 | 0 | ||||||||
|
3 | 1.000 | 19 | 50268255 | missense variant | G/A;T | snv | 6.2E-04 | 0.010 | 1.000 | 1 | 2019 | 2019 | |||||
|
43 | 0.623 | 0.600 | 3 | 49357401 | missense variant | G/A | snv | 0.28 | 0.30 | 0.010 | 1.000 | 1 | 2012 | 2012 |