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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
45 | 0.662 | 0.360 | 19 | 44892362 | intron variant | A/G | snv | 0.13 | 0.13 | 0.900 | 1.000 | 33 | 2009 | 2020 | |||
|
14 | 0.882 | 0.160 | 19 | 44892009 | intron variant | G/A | snv | 0.69 | 0.810 | 1.000 | 14 | 2009 | 2019 | ||||
|
8 | 0.851 | 0.160 | 19 | 44892962 | intron variant | C/T | snv | 0.24 | 0.29 | 0.810 | 1.000 | 7 | 2010 | 2019 | |||
|
5 | 1.000 | 0.080 | 19 | 44898409 | intron variant | A/G | snv | 0.36 | 0.800 | 1.000 | 10 | 2009 | 2019 | ||||
|
1 | 1.000 | 0.080 | 19 | 44901434 | 3 prime UTR variant | A/G;T | snv | 0.800 | 1.000 | 4 | 2011 | 2019 | |||||
|
6 | 1.000 | 0.080 | 19 | 44900155 | intron variant | C/T | snv | 0.52 | 0.800 | 1.000 | 2 | 2013 | 2019 | ||||
|
1 | 1.000 | 0.080 | 19 | 44900601 | intron variant | A/G | snv | 0.52 | 0.800 | 1.000 | 2 | 2013 | 2018 | ||||
|
5 | 0.925 | 0.080 | 19 | 44903416 | 3 prime UTR variant | G/A | snv | 0.28 | 0.700 | 1.000 | 3 | 2009 | 2012 | ||||
|
1 | 1.000 | 0.080 | 19 | 44902242 | 3 prime UTR variant | G/A | snv | 1.7E-02 | 0.700 | 1.000 | 2 | 2018 | 2019 | ||||
|
1 | 1.000 | 0.080 | 19 | 44901715 | 3 prime UTR variant | T/C;G | snv | 0.700 | 1.000 | 1 | 2013 | 2013 | |||||
|
4 | 1.000 | 0.080 | 19 | 44901805 | 3 prime UTR variant | A/G;T | snv | 0.700 | 1.000 | 1 | 2013 | 2013 | |||||
|
3 | 0.925 | 0.080 | 19 | 44892887 | synonymous variant | C/T | snv | 0.13 | 0.13 | 0.700 | 1.000 | 1 | 2014 | 2014 | |||
|
1 | 1.000 | 0.080 | 19 | 44900667 | intron variant | C/T | snv | 3.9E-02 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
2 | 1.000 | 0.080 | 19 | 44895376 | intron variant | G/C | snv | 0.12 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||
|
1 | 1.000 | 0.080 | 19 | 44890259 | intron variant | C/T | snv | 7.3E-03 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||
|
1 | 1.000 | 0.080 | 19 | 44900801 | missense variant | C/T | snv | 4.9E-04 | 5.7E-04 | 0.700 | 1.000 | 1 | 2019 | 2019 | |||
|
3 | 0.882 | 0.160 | 19 | 44895459 | intron variant | A/C | snv | 0.60 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||
|
2 | 1.000 | 0.080 | 19 | 44892652 | intron variant | C/G | snv | 0.12 | 0.700 | 1.000 | 1 | 2014 | 2014 | ||||
|
1 | 1.000 | 0.080 | 19 | 44899461 | intron variant | G/A;C | snv | 0.700 | 1.000 | 1 | 2018 | 2018 | |||||
|
1 | 1.000 | 0.080 | 19 | 44901322 | missense variant | G/A;T | snv | 3.7E-05; 9.7E-03 | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||
|
1 | 1.000 | 0.080 | 19 | 44890947 | intron variant | G/A | snv | 1.7E-03 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
4 | 0.851 | 0.080 | 19 | 44893408 | intron variant | G/A;T | snv | 0.700 | 1.000 | 1 | 2014 | 2014 | |||||
|
2 | 1.000 | 0.080 | 19 | 44897490 | intron variant | T/A | snv | 5.6E-02 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||
|
1 | 1.000 | 0.080 | 19 | 44891079 | intron variant | T/C | snv | 0.10 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
1 | 1.000 | 0.080 | 19 | 44901174 | intron variant | T/C | snv | 0.47 | 0.52 | 0.700 | 1.000 | 1 | 2013 | 2013 |