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 | 11 | 10074140 | intron variant | G/C | snv | 0.28 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
3 | 1.000 | 0.040 | 17 | 10127773 | intron variant | C/A;G;T | snv | 0.700 | 1.000 | 1 | 2018 | 2018 | |||||
|
4 | 0.925 | 0.040 | 17 | 10127866 | intron variant | A/G | snv | 0.32 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||
|
5 | 0.882 | 0.040 | 17 | 10130362 | intron variant | C/A | snv | 0.36 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
1 | 1.000 | 0.040 | 2 | 102766672 | intron variant | T/C | snv | 0.49 | 0.010 | < 0.001 | 1 | 2013 | 2013 | ||||
|
48 | 0.592 | 0.760 | 11 | 102799765 | intron variant | C/- | delins | 0.50 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
7 | 0.827 | 0.080 | 1 | 102914362 | missense variant | G/A | snv | 0.61 | 0.49 | 0.700 | 1.000 | 1 | 2012 | 2012 | |||
|
1 | 1.000 | 0.040 | 9 | 104930920 | upstream gene variant | A/C;T | snv | 0.700 | 1.000 | 1 | 2018 | 2018 | |||||
|
2 | 1.000 | 0.040 | 9 | 104933072 | upstream gene variant | G/A | snv | 0.61 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||
|
5 | 0.851 | 0.040 | 9 | 104933567 | downstream gene variant | G/A | snv | 0.61 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||
|
3 | 0.882 | 0.080 | 8 | 104945792 | intron variant | A/G | snv | 0.45 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
2 | 1.000 | 0.040 | 8 | 107238911 | intergenic variant | A/G | snv | 0.87 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||
|
1 | 1.000 | 0.040 | 8 | 107266388 | intron variant | C/A | snv | 0.13 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||
|
1 | 1.000 | 0.040 | 5 | 111092304 | missense variant | G/A | snv | 4.0E-06 | 7.0E-06 | 0.010 | 1.000 | 1 | 2012 | 2012 | |||
|
3 | 0.925 | 0.040 | 5 | 111100751 | intron variant | C/T | snv | 0.53 | 0.54 | 0.010 | 1.000 | 1 | 2017 | 2017 | |||
|
1 | 1.000 | 0.040 | 5 | 111106140 | missense variant | G/A | snv | 8.3E-03 | 4.1E-03 | 0.010 | 1.000 | 1 | 2005 | 2005 | |||
|
2 | 0.925 | 0.040 | 5 | 111108550 | intron variant | G/A;T | snv | 0.010 | 1.000 | 1 | 2017 | 2017 | |||||
|
2 | 0.925 | 0.040 | 5 | 111110280 | missense variant | G/A | snv | 7.5E-04 | 8.9E-04 | 0.010 | 1.000 | 1 | 2005 | 2005 | |||
|
2 | 0.925 | 0.040 | 5 | 111119021 | missense variant | A/G | snv | 4.3E-03 | 4.5E-03 | 0.020 | 1.000 | 2 | 2005 | 2006 | |||
|
2 | 0.925 | 0.040 | 1 | 111754860 | non coding transcript exon variant | A/T | snv | 0.27 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
1 | 1.000 | 0.040 | 7 | 11639486 | intron variant | A/G | snv | 0.33 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||
|
2 | 1.000 | 0.040 | 7 | 116511284 | downstream gene variant | T/C | snv | 0.28 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||
|
1 | 1.000 | 0.040 | 7 | 116512971 | downstream gene variant | A/C | snv | 0.27 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||
|
5 | 0.827 | 0.120 | 9 | 117710452 | intron variant | T/A;C | snv | 0.010 | 1.000 | 1 | 2017 | 2017 | |||||
|
14 | 0.742 | 0.360 | 9 | 117711921 | intron variant | T/G | snv | 0.54 | 0.010 | 1.000 | 1 | 2017 | 2017 |