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 | 10 | 100193948 | non coding transcript exon variant | A/C | snv | 0.30 | 0.29 | 0.700 | 1.000 | 1 | 2012 | 2012 | |||||
|
4 | 10 | 100230590 | intron variant | T/A | snv | 1.2E-02 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||||
|
3 | 11 | 101047942 | intron variant | C/A | snv | 1.2E-02 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||||
|
3 | 11 | 101117160 | intron variant | C/A | snv | 1.7E-02 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||||
|
6 | 11 | 101127486 | missense variant | C/G;T | snv | 0.700 | 1.000 | 1 | 2012 | 2012 | |||||||
|
3 | 1 | 101243889 | downstream gene variant | G/A;T | snv | 0.700 | 1.000 | 1 | 2012 | 2012 | |||||||
|
1 | 15 | 101446855 | intron variant | T/C | snv | 4.3E-02 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||||
|
1 | 2 | 102017062 | intron variant | T/G | snv | 1.4E-05 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||||
|
1 | 2 | 102155991 | intron variant | G/A | snv | 1.9E-02 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||||
|
3 | 11 | 102379653 | downstream gene variant | C/T | snv | 1.9E-02 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||||
|
5 | 19 | 10269461 | intron variant | G/A | snv | 3.4E-03 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||||
|
3 | 19 | 10277786 | intron variant | G/A | snv | 2.1E-03 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||||
|
1 | 11 | 102778167 | intron variant | C/A;T | snv | 0.700 | 1.000 | 1 | 2012 | 2012 | |||||||
|
1 | 7 | 103151364 | upstream gene variant | A/C;G | snv | 0.700 | 1.000 | 1 | 2012 | 2012 | |||||||
|
1 | 7 | 1044141 | intron variant | A/G | snv | 0.11 | 0.800 | 1.000 | 1 | 2013 | 2013 | ||||||
|
3 | 9 | 104879930 | intron variant | T/C | snv | 0.45 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||||
|
3 | 9 | 104880006 | intron variant | C/G;T | snv | 0.48 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||||
|
3 | 9 | 104884840 | intron variant | A/G | snv | 0.41 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||||
|
4 | 1.000 | 0.040 | 9 | 104884939 | intron variant | C/T | snv | 0.46 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||
|
4 | 0.925 | 0.120 | 9 | 104885374 | intron variant | G/A;T | snv | 0.700 | 1.000 | 1 | 2012 | 2012 | |||||
|
3 | 9 | 104886149 | intron variant | G/A | snv | 0.12 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||||
|
3 | 9 | 104886684 | intron variant | T/C | snv | 0.16 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||||
|
1 | 9 | 104888562 | intron variant | C/T | snv | 0.47 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||||
|
3 | 9 | 104888931 | intron variant | T/C | snv | 0.14 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||||
|
3 | 1.000 | 0.040 | 9 | 104891145 | intron variant | G/A | snv | 9.1E-02 | 0.800 | 1.000 | 1 | 2012 | 2018 |