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 | 0.040 | 1 | 233984064 | intron variant | T/A;C | snv | 0.700 | 1.000 | 1 | 2017 | 2017 | |||||
|
1 | 2 | 178711222 | synonymous variant | G/A;T | snv | 0.700 | 1.000 | 1 | 2017 | 2017 | |||||||
|
1 | 6 | 32621223 | regulatory region variant | -/T | delins | 0.700 | 1.000 | 1 | 2013 | 2013 | |||||||
|
4 | 0.882 | 0.200 | 6 | 32444069 | intron variant | C/A;G;T | snv | 0.700 | 1.000 | 1 | 2013 | 2013 | |||||
|
5 | 0.851 | 0.240 | 6 | 32443746 | intron variant | T/A;C | snv | 0.51 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||
|
3 | 0.925 | 0.120 | 6 | 32593082 | upstream gene variant | A/C;T | snv | 0.700 | 1.000 | 1 | 2013 | 2013 | |||||
|
7 | 0.827 | 0.360 | 6 | 31664357 | missense variant | C/A;T | snv | 0.15; 4.0E-06 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||
|
2 | 1.000 | 0.080 | 6 | 32444611 | intron variant | T/A;G | snv | 0.700 | 1.000 | 1 | 2013 | 2013 | |||||
|
1 | 4 | 129344228 | regulatory region variant | TT/-;T;TTT | delins | 0.700 | 1.000 | 1 | 2017 | 2017 | |||||||
|
2 | 1.000 | 0.120 | 6 | 32474484 | upstream gene variant | T/C;G | snv | 0.700 | 1.000 | 1 | 2013 | 2013 | |||||
|
1 | 1 | 116037356 | missense variant | G/T | snv | 0.700 | 1.000 | 1 | 2017 | 2017 | |||||||
|
2 | 1.000 | 0.120 | 6 | 32443258 | splice acceptor variant | A/C;T | snv | 0.61; 8.1E-06 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||
|
2 | 1.000 | 0.040 | 6 | 32442939 | intron variant | G/A;C | snv | 0.700 | 1.000 | 1 | 2013 | 2013 | |||||
|
1 | 4 | 107189709 | intron variant | T/C | snv | 1.9E-02 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||||
|
1 | 16 | 3348899 | TF binding site variant | GGGACT/- | delins | 2.8E-02 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||||
|
1 | 6 | 31683417 | intron variant | A/C | snv | 5.3E-02 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||||
|
2 | 1.000 | 0.120 | 6 | 31672202 | missense variant | C/T | snv | 7.4E-02 | 7.9E-02 | 0.700 | 1.000 | 1 | 2013 | 2013 | |||
|
4 | 0.925 | 0.120 | 6 | 32660651 | non coding transcript exon variant | C/A | snv | 9.6E-02 | 0.800 | 1.000 | 1 | 2013 | 2013 | ||||
|
1 | 4 | 136134743 | intron variant | G/C | snv | 9.8E-02 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||||
|
1 | 20 | 15683126 | intron variant | C/T | snv | 0.10 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||||
|
2 | 1.000 | 0.040 | 6 | 32405186 | synonymous variant | G/A | snv | 0.12 | 0.10 | 0.700 | 1.000 | 1 | 2013 | 2013 | |||
|
4 | 0.882 | 0.240 | 6 | 32405455 | splice region variant | G/T | snv | 0.11 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||
|
1 | 6 | 32403039 | missense variant | G/A | snv | 0.14 | 0.12 | 0.700 | 1.000 | 1 | 2013 | 2013 | |||||
|
3 | 0.925 | 0.040 | 6 | 32405535 | non coding transcript exon variant | C/T | snv | 0.12 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||
|
1 | 6 | 31636814 | missense variant | C/T | snv | 0.14 | 0.17 | 0.700 | 1.000 | 1 | 2013 | 2013 |