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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
3 | 1.000 | 0.080 | 11 | 61829161 | intron variant | C/T | snv | 0.38 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||
|
15 | 0.724 | 0.560 | 3 | 49357413 | missense variant | A/G | snv | 4.1E-06 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
10 | 0.882 | 0.200 | 17 | 61379228 | non coding transcript exon variant | C/T | snv | 0.69 | 0.700 | 1.000 | 2 | 2010 | 2019 | ||||
|
1 | 1.000 | 0.080 | 3 | 188874357 | missense variant | G/A | snv | 2.1E-03 | 2.5E-03 | 0.700 | 1.000 | 1 | 2018 | 2018 | |||
|
2 | 1.000 | 0.080 | 19 | 8223873 | intron variant | C/A;G;T | snv | 0.700 | 1.000 | 1 | 2018 | 2018 | |||||
|
5 | 1.000 | 0.080 | 11 | 61856709 | non coding transcript exon variant | T/C | snv | 0.46 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||
|
7 | 0.851 | 0.240 | 11 | 61828092 | intron variant | C/T | snv | 0.11 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||
|
8 | 0.925 | 0.120 | 11 | 30727543 | intergenic variant | T/C | snv | 0.35 | 0.700 | 1.000 | 2 | 2016 | 2019 | ||||
|
2 | 0.925 | 0.080 | 6 | 53956196 | intron variant | G/A;T | snv | 0.010 | 1.000 | 1 | 2019 | 2019 | |||||
|
3 | 1.000 | 0.080 | 6 | 26185972 | downstream gene variant | A/G | snv | 0.26 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||
|
6 | 0.882 | 0.160 | 6 | 7231610 | missense variant | G/A | snv | 0.11 | 8.9E-02 | 0.010 | 1.000 | 1 | 2014 | 2014 | |||
|
2 | 0.925 | 0.080 | 7 | 6402740 | 3 prime UTR variant | G/A | snv | 0.18 | 0.010 | < 0.001 | 1 | 2016 | 2016 | ||||
|
2 | 0.925 | 0.080 | 6 | 47586732 | intron variant | T/G | snv | 0.22 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
2 | 0.925 | 0.080 | 6 | 47612921 | intron variant | A/G | snv | 0.27 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
2 | 0.925 | 0.080 | 8 | 71932099 | intron variant | T/C | snv | 0.36 | 0.010 | 1.000 | 1 | 2009 | 2009 | ||||
|
3 | 0.882 | 0.160 | 20 | 59309707 | intron variant | C/T | snv | 0.61 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
1 | 1.000 | 0.080 | 20 | 39061821 | intergenic variant | A/G;T | snv | 0.700 | 1.000 | 1 | 2011 | 2011 | |||||
|
9 | 0.807 | 0.120 | 20 | 23632100 | non coding transcript exon variant | C/G;T | snv | 0.700 | 1.000 | 1 | 2010 | 2010 | |||||
|
2 | 0.925 | 0.080 | 6 | 24302010 | stop gained | G/A;C | snv | 4.0E-06; 4.0E-06 | 0.010 | < 0.001 | 1 | 2020 | 2020 | ||||
|
3 | 0.882 | 0.160 | 18 | 74520377 | 3 prime UTR variant | C/G;T | snv | 0.010 | 1.000 | 1 | 2009 | 2009 | |||||
|
7 | 0.882 | 0.200 | 6 | 43838872 | intron variant | G/A;C | snv | 0.700 | 1.000 | 1 | 2010 | 2010 | |||||
|
2 | 1.000 | 0.080 | 7 | 156460245 | intron variant | T/A;G | snv | 0.59 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
4 | 0.851 | 0.080 | 17 | 63477301 | missense variant | G/T | snv | 0.010 | 1.000 | 1 | 2003 | 2003 | |||||
|
2 | 1.000 | 0.080 | 15 | 23679185 | intergenic variant | T/G | snv | 0.20 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||
|
2 | 0.925 | 0.080 | 7 | 6380162 | intron variant | C/T | snv | 0.13 | 0.010 | 1.000 | 1 | 2016 | 2016 |