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 | 1.000 | 0.080 | 12 | 48981179 | missense variant | T/G | snv | 4.9E-05 | 7.0E-06 | 0.740 | 1.000 | 6 | 2013 | 2019 | |||
|
1 | 1.000 | 0.080 | 17 | 43768035 | 3 prime UTR variant | C/T | snv | 0.66 | 0.020 | 1.000 | 2 | 2009 | 2018 | ||||
|
2 | 1.000 | 0.080 | 13 | 42566423 | intron variant | G/A | snv | 0.18 | 0.020 | 0.500 | 2 | 2018 | 2019 | ||||
|
1 | 1.000 | 0.080 | 2 | 101052395 | intron variant | G/A | snv | 0.25 | 0.810 | 1.000 | 2 | 2010 | 2017 | ||||
|
1 | 1.000 | 0.080 | 1 | 23875153 | synonymous variant | G/A | snv | 0.62 | 0.64 | 0.020 | 1.000 | 2 | 2015 | 2019 | |||
|
1 | 1.000 | 0.080 | 1 | 23874958 | synonymous variant | C/T | snv | 0.62 | 0.64 | 0.020 | 1.000 | 2 | 2015 | 2019 | |||
|
1 | 1.000 | 0.080 | 1 | 23787639 | 3 prime UTR variant | G/A | snv | 0.64 | 0.020 | 0.500 | 2 | 2015 | 2019 | ||||
|
3 | 1.000 | 0.080 | 1 | 22384980 | intergenic variant | G/C | snv | 0.19 | 0.020 | 1.000 | 2 | 2018 | 2019 | ||||
|
3 | 1.000 | 0.080 | 7 | 96508362 | intron variant | A/G | snv | 0.72 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
1 | 1.000 | 0.080 | 2 | 199831723 | intron variant | T/C | snv | 0.16 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
2 | 0.925 | 0.080 | 15 | 45676237 | missense variant | T/C | snv | 0.24 | 0.19 | 0.010 | 1.000 | 1 | 2015 | 2015 | |||
|
1 | 1.000 | 0.080 | 12 | 6333469 | missense variant | C/T | snv | 2.3E-04 | 3.5E-05 | 0.010 | 1.000 | 1 | 2015 | 2015 | |||
|
1 | 1.000 | 0.080 | 11 | 18269516 | intron variant | T/C;G | snv | 0.010 | 1.000 | 1 | 2019 | 2019 | |||||
|
1 | 1.000 | 0.080 | 19 | 35371499 | missense variant | C/T | snv | 1.5E-05 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
1 | 1.000 | 0.080 | 18 | 9848005 | intron variant | G/A | snv | 3.4E-02 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||
|
1 | 1.000 | 0.080 | 2 | 234302083 | regulatory region variant | G/A | snv | 0.13 | 0.800 | 1.000 | 1 | 2010 | 2010 | ||||
|
1 | 1.000 | 0.080 | 5 | 102438650 | missense variant | T/C | snv | 4.3E-06 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
1 | 1.000 | 0.080 | 14 | 64267309 | intron variant | G/A | snv | 0.66 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
2 | 1.000 | 0.080 | 1 | 22355873 | intergenic variant | C/A;T | snv | 0.010 | 1.000 | 1 | 2020 | 2020 | |||||
|
1 | 1.000 | 0.080 | 10 | 29570927 | intron variant | C/A;T | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||
|
1 | 1.000 | 0.080 | 11 | 39306409 | intergenic variant | G/A | snv | 0.47 | 0.800 | 1.000 | 1 | 2010 | 2010 | ||||
|
1 | 1.000 | 0.080 | X | 115629281 | synonymous variant | T/A | snv | 1.5E-02 | 1.3E-02 | 0.010 | 1.000 | 1 | 2019 | 2019 | |||
|
1 | 1.000 | 0.080 | 2 | 96116013 | missense variant | G/A | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
1 | 1.000 | 0.080 | 12 | 47879073 | missense variant | C/G;T | snv | 0.010 | 1.000 | 1 | 2015 | 2015 | |||||
|
1 | 1.000 | 0.080 | 4 | 87853095 | regulatory region variant | G/A | snv | 0.38 | 0.010 | 1.000 | 1 | 2013 | 2013 |