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 | 0.080 | 7 | 113878300 | missense variant | G/T | snv | 1.4E-03 | 1.5E-03 | 0.700 | 0 | ||||||
|
1 | 1.000 | 0.080 | 3 | 171005284 | splice donor variant | C/T | snv | 8.0E-06 | 7.0E-06 | 0.700 | 0 | ||||||
|
1 | 1.000 | 0.080 | 11 | 92969849 | missense variant | G/C | snv | 7.0E-06 | 0.700 | 0 | |||||||
|
9 | 0.763 | 0.240 | 20 | 44406195 | missense variant | C/T | snv | 0.700 | 0 | ||||||||
|
5 | 0.851 | 0.080 | 7 | 44150004 | missense variant | C/T | snv | 0.700 | 0 | ||||||||
|
5 | 0.827 | 0.160 | 11 | 17394379 | missense variant | C/T | snv | 7.0E-06 | 0.700 | 0 | |||||||
|
6 | 0.807 | 0.160 | 11 | 17412716 | stop gained | G/A | snv | 6.1E-05 | 2.1E-05 | 0.700 | 0 | ||||||
|
6 | 0.807 | 0.160 | 11 | 17474955 | missense variant | C/A;T | snv | 4.0E-06; 8.0E-06 | 0.700 | 0 | |||||||
|
6 | 0.807 | 0.280 | 12 | 120996568 | missense variant | C/A;G;T | snv | 2.4E-05; 1.9E-04; 3.6E-05 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.080 | 20 | 45285365 | intergenic variant | C/G;T | snv | 0.700 | 0 | ||||||||
|
4 | 0.851 | 0.080 | 7 | 44147747 | missense variant | C/G;T | snv | 4.0E-06 | 0.700 | 0 | |||||||
|
3 | 0.882 | 0.120 | 13 | 27924341 | missense variant | G/T | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | 3 | 12350786 | intron variant | A/C;G | snv | 7.0E-06 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.080 | 3 | 186854691 | missense variant | A/C | snv | 3.9E-04 | 1.8E-04 | 0.020 | < 0.001 | 2 | 2010 | 2014 | |||
|
9 | 0.790 | 0.120 | 3 | 183840614 | missense variant | C/G;T | snv | 0.46; 1.2E-05 | 0.020 | < 0.001 | 2 | 2009 | 2014 | ||||
|
9 | 0.763 | 0.360 | 2 | 191105153 | intron variant | G/C | snv | 0.79 | 0.010 | < 0.001 | 1 | 2018 | 2018 | ||||
|
6 | 0.807 | 0.320 | 1 | 203186952 | upstream gene variant | T/A;C | snv | 0.010 | < 0.001 | 1 | 2009 | 2009 | |||||
|
1 | 1.000 | 0.080 | 2 | 177254568 | intron variant | G/A;C | snv | 0.010 | < 0.001 | 1 | 2016 | 2016 | |||||
|
3 | 0.925 | 0.080 | 22 | 41885425 | intron variant | A/G | snv | 0.62 | 0.010 | < 0.001 | 1 | 2018 | 2018 | ||||
|
4 | 0.882 | 0.080 | 12 | 120994238 | missense variant | G/A | snv | 0.010 | < 0.001 | 1 | 2015 | 2015 | |||||
|
1 | 1.000 | 0.080 | 11 | 13352217 | intron variant | C/T | snv | 0.15 | 0.010 | < 0.001 | 1 | 2015 | 2015 | ||||
|
1 | 1.000 | 0.080 | 19 | 799770 | intron variant | A/G | snv | 8.7E-02 | 0.010 | < 0.001 | 1 | 2015 | 2015 | ||||
|
1 | 1.000 | 0.080 | 1 | 75744604 | non coding transcript exon variant | C/T | snv | 0.24 | 0.010 | < 0.001 | 1 | 2011 | 2011 | ||||
|
28 | 0.677 | 0.360 | 1 | 55039974 | missense variant | G/A;T | snv | 1.2E-02 | 0.010 | < 0.001 | 1 | 2015 | 2015 | ||||
|
3 | 0.882 | 0.200 | 1 | 247417907 | intron variant | T/C | snv | 0.26 | 0.010 | < 0.001 | 1 | 2015 | 2015 |