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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
1 | 1.000 | 0.040 | 17 | 45980520 | intron variant | -/C | ins | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||
|
3 | 0.882 | 0.040 | 22 | 41238083 | frameshift variant | -/GCCCGCGC | delins | 4.8E-03 | 1.2E-02 | 0.710 | 1.000 | 1 | 2017 | 2017 | |||
|
1 | 1.000 | 0.040 | 8 | 9222261 | intron variant | -/T | delins | 0.13 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||
|
3 | 1.000 | 0.040 | 10 | 87931195 | intron variant | -/TCTTA | delins | 0.010 | 1.000 | 1 | 2019 | 2019 | |||||
|
26 | 0.667 | 0.480 | 2 | 112774138 | 3 prime UTR variant | -/TGAA | delins | 0.010 | 1.000 | 1 | 2015 | 2015 | |||||
|
2 | 1.000 | 0.040 | 12 | 123218875 | intron variant | -/TGT;TGTTGT | delins | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||
|
1 | 1.000 | 0.040 | 7 | 96090522 | intron variant | A/-;AA;AAA;AAAA | delins | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||
|
1 | 1.000 | 0.040 | 12 | 47995860 | intron variant | A/C | snv | 0.74 | 0.79 | 0.700 | 1.000 | 1 | 2012 | 2012 | |||
|
3 | 1.000 | 0.040 | 17 | 72124410 | 3 prime UTR variant | A/C | snv | 0.41 | 0.36 | 0.010 | 1.000 | 1 | 2019 | 2019 | |||
|
3 | 0.925 | 0.120 | 9 | 4291928 | intron variant | A/C | snv | 0.29 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
1 | 1.000 | 0.040 | 12 | 78038275 | intron variant | A/C | snv | 0.20 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||
|
9 | 0.763 | 0.320 | 1 | 152032679 | missense variant | A/C | snv | 0.010 | 1.000 | 1 | 2014 | 2014 | |||||
|
1 | 1.000 | 0.040 | 8 | 118953670 | upstream gene variant | A/C | snv | 0.43 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
3 | 0.925 | 0.080 | 1 | 102986836 | intron variant | A/C | snv | 0.27 | 0.010 | < 0.001 | 1 | 2013 | 2013 | ||||
|
1 | 1.000 | 0.040 | 7 | 107297975 | intron variant | A/C | snv | 0.20 | 0.810 | 1.000 | 1 | 2010 | 2010 | ||||
|
4 | 0.882 | 0.040 | 1 | 219467338 | intergenic variant | A/C;G | snv | 0.700 | 1.000 | 2 | 2018 | 2019 | |||||
|
1 | 1.000 | 0.040 | 8 | 89762965 | missense variant | A/C;G | snv | 4.7E-04 | 4.2E-04 | 0.010 | 1.000 | 1 | 2018 | 2018 | |||
|
2 | 0.925 | 0.040 | 2 | 118844296 | non coding transcript exon variant | A/C;G | snv | 0.010 | 1.000 | 1 | 2017 | 2017 | |||||
|
1 | 1.000 | 0.040 | 11 | 102842734 | missense variant | A/C;G | snv | 4.0E-06; 0.57 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
2 | 1.000 | 0.040 | 3 | 186855916 | 3 prime UTR variant | A/C;G | snv | 0.55 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
3 | 0.882 | 0.160 | 21 | 26930036 | missense variant | A/G | snv | 0.83 | 0.89 | 0.030 | 0.667 | 3 | 2008 | 2019 | |||
|
1 | 1.000 | 0.040 | 13 | 113040195 | intron variant | A/G | snv | 0.12 | 0.810 | 1.000 | 2 | 2011 | 2015 | ||||
|
92 | 0.531 | 0.920 | 2 | 112837290 | upstream gene variant | A/G | snv | 0.57 | 0.020 | 1.000 | 2 | 2010 | 2013 | ||||
|
43 | 0.605 | 0.800 | 7 | 22726602 | non coding transcript exon variant | A/G | snv | 0.72 | 0.020 | 1.000 | 2 | 2008 | 2010 | ||||
|
2 | 0.925 | 0.040 | 2 | 70490521 | intron variant | A/G | snv | 0.60 | 0.700 | 1.000 | 2 | 2018 | 2019 |