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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
4 | 1.000 | 0.120 | 7 | 99521178 | intron variant | C/T | snv | 0.12 | 0.800 | 1.000 | 1 | 2011 | 2011 | ||||
|
4 | 7 | 99891948 | 3 prime UTR variant | G/A | snv | 3.1E-02 | 0.800 | 1.000 | 1 | 2011 | 2011 | ||||||
|
1 | 10 | 94991513 | downstream gene variant | T/C | snv | 8.9E-02 | 0.800 | 1.000 | 1 | 2011 | 2011 | ||||||
|
1 | 10 | 92725454 | intergenic variant | A/C;T | snv | 0.800 | 1.000 | 1 | 2011 | 2011 | |||||||
|
1 | 19 | 47898636 | intergenic variant | G/A | snv | 0.11 | 0.800 | 1.000 | 1 | 2011 | 2011 | ||||||
|
1 | 2 | 111191750 | intron variant | G/C | snv | 0.64 | 0.800 | 1.000 | 1 | 2011 | 2011 | ||||||
|
1 | 15 | 40068540 | intron variant | A/G | snv | 0.31 | 0.800 | 1.000 | 1 | 2011 | 2011 | ||||||
|
2 | 1.000 | 0.120 | 7 | 99360257 | intron variant | C/T | snv | 8.6E-02 | 0.800 | 1.000 | 1 | 2011 | 2011 | ||||
|
7 | 1.000 | 0.080 | 7 | 99533211 | 3 prime UTR variant | G/A;T | snv | 7.7E-06; 2.6E-02 | 0.700 | 1.000 | 2 | 2013 | 2016 | ||||
|
3 | 4 | 148748354 | intron variant | T/A;C | snv | 0.700 | 1.000 | 1 | 2013 | 2013 | |||||||
|
1 | 7 | 99599778 | intron variant | A/G | snv | 0.38 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||||
|
1 | 19 | 47900919 | intergenic variant | C/T | snv | 0.11 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||||
|
2 | 7 | 99439297 | intron variant | G/A | snv | 0.19 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||||
|
1 | 7 | 99520697 | intron variant | G/A | snv | 0.13 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||||
|
4 | 0.925 | 0.080 | 7 | 99478208 | intron variant | T/C | snv | 0.13 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||
|
1 | 7 | 99548222 | missense variant | C/A;T | snv | 0.26 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||||
|
1 | 7 | 99598805 | intron variant | T/G | snv | 0.38 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||||
|
1 | 7 | 99428870 | intron variant | A/G | snv | 0.38 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||||
|
3 | 0.925 | 0.080 | 7 | 99598450 | intron variant | T/A | snv | 0.13 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||
|
2 | 7 | 99543750 | downstream gene variant | G/A | snv | 0.16 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||||
|
1 | 19 | 47849107 | regulatory region variant | A/G | snv | 0.18 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||||
|
2 | 15 | 49454167 | intron variant | T/A | snv | 0.20 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||||
|
2 | 12 | 114276461 | regulatory region variant | T/C | snv | 0.39 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||||
|
3 | 1 | 19514680 | intron variant | G/A | snv | 0.18 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||||
|
1 | 7 | 99473261 | intron variant | T/A | snv | 0.12 | 0.700 | 1.000 | 1 | 2011 | 2011 |