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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
8 | 1.000 | 0.040 | 8 | 19973410 | regulatory region variant | C/T | snv | 0.22 | 0.700 | 1.000 | 1 | 2009 | 2009 | ||||
|
3 | 1.000 | 0.080 | 7 | 15024208 | intergenic variant | T/A;G | snv | 0.800 | 1.000 | 1 | 2009 | 2009 | |||||
|
3 | 10 | 89612776 | intron variant | G/A | snv | 0.15 | 0.700 | 1.000 | 1 | 2009 | 2009 | ||||||
|
3 | 1 | 65703996 | non coding transcript exon variant | G/A | snv | 0.58 | 0.700 | 1.000 | 1 | 2009 | 2009 | ||||||
|
2 | 11 | 92989595 | downstream gene variant | G/A | snv | 0.55 | 0.800 | 1.000 | 1 | 2009 | 2009 | ||||||
|
3 | 15 | 38856448 | intron variant | T/C | snv | 0.28 | 0.700 | 1.000 | 1 | 2009 | 2009 | ||||||
|
10 | 0.851 | 0.200 | 12 | 120951159 | intron variant | A/C | snv | 0.70 | 0.700 | 1.000 | 1 | 2009 | 2009 | ||||
|
9 | 0.807 | 0.240 | 1 | 159709026 | upstream gene variant | C/A;T | snv | 0.700 | 1.000 | 1 | 2009 | 2009 | |||||
|
18 | 0.827 | 0.120 | 2 | 168906638 | intron variant | T/C | snv | 0.79 | 0.80 | 0.800 | 1.000 | 1 | 2009 | 2009 | |||
|
14 | 0.925 | 0.120 | 2 | 21014672 | intron variant | G/A;T | snv | 0.700 | 1.000 | 1 | 2009 | 2009 | |||||
|
2 | 15 | 40407823 | intron variant | C/T | snv | 0.37 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||||
|
2 | 1 | 21494497 | intergenic variant | A/G | snv | 0.47 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||||
|
2 | 7 | 17269655 | intron variant | C/A | snv | 0.46 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||||
|
2 | 2 | 73591809 | intron variant | G/A;C | snv | 0.700 | 1.000 | 1 | 2011 | 2011 | |||||||
|
6 | 8 | 18415790 | intergenic variant | G/A;C | snv | 0.700 | 1.000 | 1 | 2011 | 2011 | |||||||
|
4 | 7 | 99891948 | 3 prime UTR variant | G/A | snv | 3.1E-02 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||||
|
2 | 22 | 18984937 | intron variant | A/G | snv | 7.9E-02 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||||
|
3 | 12 | 120722812 | 3 prime UTR variant | A/C;G | snv | 0.700 | 1.000 | 1 | 2011 | 2011 | |||||||
|
2 | 4 | 110413574 | intron variant | G/T | snv | 0.68 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||||
|
3 | 1 | 75640990 | downstream gene variant | T/C | snv | 0.75 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||||
|
2 | 2 | 210752170 | intergenic variant | A/G | snv | 0.15 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||||
|
2 | 11 | 18303599 | intron variant | C/G;T | snv | 0.700 | 1.000 | 1 | 2011 | 2011 | |||||||
|
2 | 10 | 5095844 | intron variant | A/G;T | snv | 0.700 | 1.000 | 1 | 2011 | 2011 | |||||||
|
2 | 15 | 63130573 | 3 prime UTR variant | T/C | snv | 0.41 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||||
|
9 | 1.000 | 0.080 | 12 | 56471554 | missense variant | A/G | snv | 0.17 | 0.15 | 0.700 | 1.000 | 1 | 2011 | 2011 |