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 | 0.080 | 7 | 15024301 | intergenic variant | C/T | snv | 0.54 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||
|
1 | 7 | 40304762 | intron variant | C/A;G | snv | 0.45 | 0.700 | 1.000 | 1 | 2009 | 2009 | ||||||
|
2 | 7 | 50683393 | intron variant | T/C | snv | 0.71 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||||
|
1 | 7 | 44180106 | intron variant | T/C | snv | 0.20 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
1 | 7 | 14882382 | intron variant | T/C;G | snv | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||||
|
2 | 7 | 44205764 | intron variant | A/C;G | snv | 0.700 | 1.000 | 1 | 2012 | 2012 | |||||||
|
2 | 1.000 | 0.080 | 6 | 39079018 | missense variant | G/A | snv | 1.0E-02 | 1.1E-02 | 0.700 | 1.000 | 2 | 2015 | 2015 | |||
|
1 | 2 | 168878291 | intron variant | G/C | snv | 0.11 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
2 | 19 | 45824675 | intron variant | C/T | snv | 0.46 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||||
|
5 | 0.925 | 0.120 | 11 | 47272248 | 5 prime UTR variant | G/C | snv | 0.17 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
2 | 12 | 132465032 | downstream gene variant | G/A;T | snv | 0.700 | 1.000 | 1 | 2012 | 2012 | |||||||
|
8 | 0.827 | 0.240 | 9 | 4292083 | intron variant | G/A | snv | 0.45 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||
|
22 | 0.724 | 0.400 | 9 | 22134095 | intergenic variant | T/C | snv | 0.14 | 0.800 | 1.000 | 5 | 2012 | 2015 | ||||
|
7 | 0.851 | 0.200 | 9 | 4293150 | intron variant | A/C | snv | 0.57 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||
|
1 | 9 | 622523 | intron variant | G/T | snv | 6.0E-02 | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||||
|
7 | 0.851 | 0.160 | 11 | 92965261 | upstream gene variant | C/A;G;T | snv | 0.700 | 1.000 | 2 | 2011 | 2019 | |||||
|
27 | 0.776 | 0.400 | 11 | 92975544 | intron variant | C/G | snv | 0.22 | 0.800 | 1.000 | 11 | 2009 | 2019 | ||||
|
1 | 12 | 121500382 | intron variant | C/G | snv | 0.30 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||||
|
4 | 1.000 | 0.080 | 10 | 111282335 | intergenic variant | T/G | snv | 0.71 | 0.800 | 1.000 | 4 | 2010 | 2019 | ||||
|
2 | 11 | 47180373 | intron variant | G/A | snv | 0.38 | 0.33 | 0.700 | 1.000 | 1 | 2012 | 2012 | |||||
|
2 | 11 | 47207765 | intergenic variant | C/T | snv | 0.20 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||||
|
2 | 11 | 47325172 | intron variant | T/C | snv | 0.19 | 0.800 | 1.000 | 2 | 2012 | 2019 | ||||||
|
2 | 11 | 8222251 | downstream gene variant | A/G | snv | 0.36 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||||
|
3 | 1.000 | 0.040 | 15 | 62141763 | regulatory region variant | A/G | snv | 0.31 | 0.700 | 1.000 | 1 | 2010 | 2010 | ||||
|
2 | 10 | 111279909 | intergenic variant | C/A;G;T | snv | 0.700 | 1.000 | 1 | 2012 | 2012 |