| 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 | 32342641 | intron variant | G/A | snv | 0.18 | 0.830 | 0.800 | 5 | 2012 | 2016 | ||||
|
1 | 1.000 | 0.040 | 8 | 130240512 | intron variant | A/G | snv | 0.37 | 0.040 | 0.250 | 4 | 2015 | 2018 | ||||
|
1 | 1.000 | 0.040 | 8 | 130284521 | intron variant | A/C | snv | 0.29 | 0.740 | 1.000 | 4 | 2015 | 2019 | ||||
|
1 | 1.000 | 0.040 | 8 | 41302340 | intron variant | C/T | snv | 1.0E-01 | 0.030 | 1.000 | 3 | 2014 | 2016 | ||||
|
1 | 1.000 | 0.040 | 2 | 230212961 | missense variant | G/A | snv | 0.10 | 7.4E-02 | 0.020 | 1.000 | 2 | 2017 | 2018 | |||
|
1 | 1.000 | 0.040 | 8 | 41261978 | 3 prime UTR variant | T/C | snv | 3.6E-02 | 0.020 | 1.000 | 2 | 2016 | 2016 | ||||
|
1 | 1.000 | 0.040 | 1 | 11034982 | intron variant | C/A;T | snv | 0.020 | 1.000 | 2 | 2014 | 2015 | |||||
|
1 | 1.000 | 0.040 | 5 | 150847077 | 5 prime UTR variant | T/C | snv | 0.21 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
1 | 1.000 | 0.040 | 8 | 130234967 | intron variant | G/A | snv | 0.37 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
1 | 1.000 | 0.040 | 17 | 744917 | missense variant | G/A;C | snv | 0.20 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
1 | 1.000 | 0.040 | 12 | 103949490 | intron variant | G/A | snv | 7.2E-02 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
1 | 1.000 | 0.040 | 12 | 103950058 | intron variant | A/G | snv | 6.3E-02 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
1 | 1.000 | 0.040 | 19 | 50382924 | 3 prime UTR variant | C/G;T | snv | 0.45 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
1 | 1.000 | 0.040 | 10 | 79615230 | 3 prime UTR variant | T/C | snv | 0.47 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
1 | 1.000 | 0.040 | 2 | 5113465 | intergenic variant | C/T | snv | 0.20 | 0.800 | 1.000 | 1 | 2014 | 2014 | ||||
|
1 | 1.000 | 0.040 | 1 | 183579857 | intron variant | A/G | snv | 0.12 | 0.010 | 1.000 | 1 | 2020 | 2020 | ||||
|
1 | 1.000 | 0.040 | 1 | 159029494 | intron variant | C/T | snv | 0.65 | 0.010 | 1.000 | 1 | 2020 | 2020 | ||||
|
1 | 1.000 | 0.040 | 11 | 32342070 | intron variant | C/G | snv | 0.18 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||
|
1 | 1.000 | 0.040 | 6 | 81752132 | missense variant | C/A;G;T | snv | 0.010 | 1.000 | 1 | 2014 | 2014 | |||||
|
1 | 1.000 | 0.040 | 16 | 85917080 | intron variant | A/G | snv | 0.12 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
1 | 1.000 | 0.040 | 11 | 612967 | intron variant | A/G | snv | 0.25 | 0.33 | 0.010 | 1.000 | 1 | 2020 | 2020 | |||
|
1 | 1.000 | 0.040 | 5 | 35873503 | missense variant | G/A;T | snv | 9.5E-03; 4.0E-06 | 0.010 | < 0.001 | 1 | 2019 | 2019 | ||||
|
1 | 1.000 | 0.040 | 8 | 130177997 | intron variant | C/T | snv | 0.61 | 0.010 | < 0.001 | 1 | 2016 | 2016 | ||||
|
1 | 1.000 | 0.040 | 19 | 10338932 | synonymous variant | C/T | snv | 0.010 | 1.000 | 1 | 2014 | 2014 | |||||
|
1 | 1.000 | 0.040 | 5 | 25323598 | intron variant | G/A | snv | 0.70 | 0.700 | 1.000 | 1 | 2017 | 2017 |