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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
5 | 6 | 16744456 | intron variant | C/G;T | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||||
|
2 | 7 | 75812976 | intron variant | C/T | snv | 4.9E-02 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||||
|
2 | 3 | 10186296 | intron variant | C/G | snv | 4.2E-02 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||||
|
2 | 14 | 93951185 | missense variant | T/C | snv | 3.3E-02 | 3.7E-02 | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||
|
21 | 0.752 | 0.240 | 7 | 130023656 | missense variant | C/A;T | snv | 4.0E-06; 0.28 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||
|
1 | 1 | 205175235 | intron variant | G/T | snv | 0.29 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||||
|
5 | 14 | 92644775 | non coding transcript exon variant | C/T | snv | 0.15 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||||
|
5 | 17 | 59748211 | intron variant | A/C | snv | 0.40 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||||
|
2 | 19 | 45238075 | intron variant | A/T | snv | 0.23 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||||
|
5 | 4 | 74094279 | downstream gene variant | A/G | snv | 0.28 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||||
|
4 | 4 | 711285 | intron variant | C/A;T | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||||
|
3 | 5 | 69294573 | intron variant | G/A;C | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||||
|
4 | 7 | 50218107 | intron variant | T/A | snv | 5.4E-02 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||||
|
1 | 7 | 143384849 | intron variant | G/C | snv | 0.24 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||||
|
2 | 8 | 127992729 | intron variant | G/A | snv | 0.31 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||||
|
2 | 9 | 132982259 | intron variant | C/T | snv | 1.1E-02 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||||
|
1 | 15 | 50100624 | intron variant | A/T | snv | 0.26 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
1 | 7 | 75618011 | intron variant | C/T | snv | 0.49 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||||
|
4 | 4 | 7045375 | intron variant | C/T | snv | 0.55 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||||
|
1 | 6 | 22341240 | intron variant | G/A | snv | 0.47 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||||
|
22 | 0.724 | 0.240 | 1 | 159205564 | missense variant | G/A | snv | 0.51 | 0.66 | 0.700 | 1.000 | 1 | 2016 | 2016 | |||
|
3 | 19 | 33260946 | intergenic variant | G/A;C;T | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||||
|
1 | 6 | 109381824 | non coding transcript exon variant | A/G | snv | 4.6E-02 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
9 | 1 | 247438293 | intron variant | T/C | snv | 0.58 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||||
|
2 | 10 | 913171 | intron variant | T/C | snv | 0.20 | 0.700 | 1.000 | 1 | 2016 | 2016 |