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 | 14 | 30885890 | missense variant | C/G | snv | 0.56 | 0.51 | 0.010 | 1.000 | 1 | 2019 | 2019 | |||||
|
5 | 1.000 | 2 | 49264671 | intron variant | G/A | snv | 0.26 | 0.700 | 1.000 | 1 | 2014 | 2014 | |||||
|
1 | 8 | 62972541 | intron variant | G/A | snv | 0.11 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||||
|
5 | 1.000 | 10 | 89981680 | intron variant | G/T | snv | 7.1E-02 | 0.700 | 1.000 | 1 | 2014 | 2014 | |||||
|
1 | 4 | 65271097 | intergenic variant | C/T | snv | 0.33 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||||
|
5 | 1.000 | 10 | 6061799 | intron variant | C/A;T | snv | 0.700 | 1.000 | 1 | 2014 | 2014 | ||||||
|
5 | 1.000 | 13 | 106686453 | intron variant | C/A | snv | 0.62 | 0.700 | 1.000 | 1 | 2014 | 2014 | |||||
|
5 | 1.000 | 2 | 1434216 | intron variant | T/G | snv | 0.86 | 0.700 | 1.000 | 1 | 2014 | 2014 | |||||
|
5 | 1.000 | 12 | 70560684 | synonymous variant | C/T | snv | 1.4E-02 | 3.5E-02 | 0.700 | 1.000 | 1 | 2014 | 2014 | ||||
|
2 | 8 | 19458576 | missense variant | T/C | snv | 1.2E-05 | 1.4E-05 | 0.010 | 1.000 | 1 | 2011 | 2011 | |||||
|
1 | 1 | 22551320 | intergenic variant | G/A;C | snv | 0.010 | 1.000 | 1 | 2019 | 2019 | |||||||
|
5 | 1.000 | 7 | 18464885 | intron variant | G/A | snv | 0.96 | 0.700 | 1.000 | 1 | 2014 | 2014 | |||||
|
5 | 1.000 | 10 | 44368720 | downstream gene variant | C/T | snv | 3.9E-02 | 0.700 | 1.000 | 1 | 2014 | 2014 | |||||
|
1 | 6 | 31559979 | downstream gene variant | G/A;C | snv | 0.010 | < 0.001 | 1 | 2016 | 2016 | |||||||
|
1 | 3 | 97627774 | intron variant | G/A | snv | 0.68 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||||
|
1 | 2 | 166284599 | missense variant | G/C;T | snv | 4.0E-06; 2.4E-02 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||||
|
1 | 8 | 55198762 | intron variant | A/C | snv | 0.20 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||||
|
5 | 1.000 | 20 | 945754 | intergenic variant | G/A | snv | 0.29 | 0.700 | 1.000 | 1 | 2014 | 2014 | |||||
|
2 | 8 | 19405853 | missense variant | A/C | snv | 1.5E-04 | 9.8E-05 | 0.010 | 1.000 | 1 | 2011 | 2011 | |||||
|
1 | 19 | 35756909 | missense variant | C/G;T | snv | 1.5E-05 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||||
|
5 | 1.000 | X | 144281548 | intergenic variant | C/A;G;T | snv | 0.700 | 1.000 | 1 | 2014 | 2014 | ||||||
|
5 | 1.000 | 18 | 8931654 | intergenic variant | T/C | snv | 0.19 | 0.700 | 1.000 | 1 | 2014 | 2014 | |||||
|
1 | 2 | 166251875 | missense variant | C/G;T | snv | 8.5E-05; 2.0E-02 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||||
|
1 | X | 71224215 | missense variant | G/A | snv | 2.3E-05 | 1.9E-05 | 0.010 | 1.000 | 1 | 2010 | 2010 | |||||
|
5 | 1.000 | 1 | 182052148 | downstream gene variant | C/T | snv | 8.5E-02 | 0.700 | 1.000 | 1 | 2014 | 2014 |