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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
7 | 0.851 | 0.120 | 6 | 31285148 | intron variant | C/T | snv | 0.12 | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||
|
1 | 1.000 | 0.080 | 10 | 66001962 | intron variant | T/C | snv | 0.15 | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||
|
9 | 0.807 | 0.240 | 6 | 32098988 | intron variant | C/T | snv | 8.4E-02 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
1 | 1.000 | 0.080 | 9 | 5169600 | intron variant | C/T | snv | 2.5E-03 | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||
|
1 | 1.000 | 0.080 | 6 | 30893833 | intron variant | G/A | snv | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||
|
1 | 1.000 | 0.080 | 6 | 29732406 | intron variant | C/A;T | snv | 0.20 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
1 | 1.000 | 0.080 | 6 | 32820935 | intron variant | T/G | snv | 0.20 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
1 | 1.000 | 0.080 | 6 | 32659314 | upstream gene variant | A/G | snv | 2.9E-02 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
1 | 1.000 | 0.080 | 6 | 30752534 | intron variant | C/G;T | snv | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||
|
1 | 1.000 | 0.080 | 6 | 111184068 | intron variant | C/T | snv | 0.76 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
2 | 0.925 | 0.080 | 6 | 111374888 | missense variant | T/C | snv | 5.9E-02 | 5.6E-02 | 0.700 | 1.000 | 1 | 2019 | 2019 | |||
|
1 | 1.000 | 0.080 | 1 | 67145930 | intron variant | G/A | snv | 0.37 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
2 | 0.925 | 0.080 | 3 | 101896982 | intron variant | G/T | snv | 0.19 | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||
|
6 | 0.807 | 0.120 | 5 | 159337470 | intron variant | T/C;G | snv | 0.700 | 1.000 | 1 | 2015 | 2015 | |||||
|
1 | 1.000 | 0.080 | 5 | 159341357 | intron variant | A/G | snv | 0.89 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
2 | 0.925 | 0.080 | 6 | 111484775 | non coding transcript exon variant | A/G | snv | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||
|
6 | 0.807 | 0.120 | 5 | 151090412 | intron variant | G/A | snv | 5.0E-02 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
1 | 1.000 | 0.080 | 5 | 151085080 | intron variant | A/C;G | snv | 0.700 | 1.000 | 1 | 2015 | 2015 | |||||
|
1 | 1.000 | 0.080 | 6 | 32954682 | intron variant | G/A | snv | 0.11 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
14 | 0.732 | 0.440 | 5 | 159395637 | intron variant | G/C | snv | 0.35 | 0.050 | 1.000 | 5 | 2008 | 2019 | ||||
|
46 | 0.597 | 0.680 | 1 | 67240275 | missense variant | G/A | snv | 4.2E-02 | 4.6E-02 | 0.040 | 1.000 | 4 | 2008 | 2019 | |||
|
65 | 0.566 | 0.840 | 5 | 159315942 | 3 prime UTR variant | T/G | snv | 0.26 | 0.040 | 1.000 | 4 | 2008 | 2019 | ||||
|
37 | 0.627 | 0.560 | 5 | 132657117 | non coding transcript exon variant | C/G;T | snv | 0.030 | 1.000 | 3 | 2009 | 2011 | |||||
|
46 | 0.611 | 0.600 | 16 | 50722629 | missense variant | G/C;T | snv | 1.1E-02; 2.2E-04 | 0.030 | 1.000 | 3 | 2004 | 2010 | ||||
|
62 | 0.562 | 0.760 | 6 | 31575324 | upstream gene variant | G/A | snv | 4.6E-02 | 0.030 | 1.000 | 3 | 2018 | 2019 |