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 | 6 | 88403098 | intron variant | C/G;T | snv | 0.700 | 1.000 | 1 | 2007 | 2007 | |||||||
|
3 | 1.000 | 0.040 | 15 | 54388434 | intron variant | A/C | snv | 0.16 | 0.700 | 1.000 | 1 | 2007 | 2007 | ||||
|
1 | 5 | 125907327 | intron variant | T/C | snv | 0.700 | 1.000 | 1 | 2007 | 2007 | |||||||
|
1 | 4 | 140466284 | intron variant | C/T | snv | 0.25 | 0.700 | 1.000 | 1 | 2007 | 2007 | ||||||
|
3 | 9 | 82800066 | intergenic variant | A/G | snv | 0.37 | 0.700 | 1.000 | 1 | 2007 | 2007 | ||||||
|
2 | 10 | 128135192 | intergenic variant | C/T | snv | 0.24 | 0.700 | 1.000 | 1 | 2007 | 2007 | ||||||
|
1 | 5 | 125907327 | intron variant | T/C | snv | 0.14 | 0.700 | 1.000 | 1 | 2007 | 2007 | ||||||
|
1 | 19 | 30608983 | intron variant | A/G | snv | 0.46 | 0.800 | 1.000 | 1 | 2007 | 2007 | ||||||
|
1 | 1 | 83788868 | intron variant | A/G | snv | 0.57 | 0.700 | 1.000 | 1 | 2007 | 2007 | ||||||
|
1 | 12 | 103101373 | intron variant | T/C | snv | 0.57 | 0.800 | 1.000 | 1 | 2008 | 2008 | ||||||
|
19 | 0.724 | 0.720 | 1 | 154454494 | missense variant | A/C;T | snv | 0.700 | 1.000 | 1 | 2008 | 2008 | |||||
|
1 | 1 | 39599289 | regulatory region variant | G/A | snv | 0.16 | 0.800 | 1.000 | 1 | 2011 | 2011 | ||||||
|
1 | 7 | 22693220 | intron variant | G/A | snv | 0.24 | 0.800 | 1.000 | 1 | 2011 | 2011 | ||||||
|
3 | 1.000 | 0.040 | 18 | 12821594 | intron variant | A/G | snv | 0.32 | 0.800 | 1.000 | 1 | 2011 | 2011 | ||||
|
1 | 15 | 60602766 | intron variant | C/T | snv | 0.70 | 0.800 | 1.000 | 1 | 2011 | 2011 | ||||||
|
1 | 5 | 132503926 | intron variant | G/A | snv | 0.62 | 0.800 | 1.000 | 1 | 2011 | 2011 | ||||||
|
1 | 6 | 116792862 | synonymous variant | G/A | snv | 0.33 | 0.29 | 0.800 | 1.000 | 1 | 2011 | 2011 | |||||
|
1 | 1 | 159226975 | regulatory region variant | C/A;T | snv | 0.700 | 1.000 | 2 | 2007 | 2012 | |||||||
|
1 | 1 | 159308461 | downstream gene variant | G/C;T | snv | 0.700 | 1.000 | 2 | 2007 | 2012 | |||||||
|
1 | 1 | 159436169 | intron variant | T/C;G | snv | 0.700 | 1.000 | 2 | 2007 | 2012 | |||||||
|
1 | 14 | 51616362 | intron variant | G/A | snv | 0.47 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||||
|
1 | 1 | 207615233 | intron variant | A/G | snv | 0.19 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||||
|
1 | 1 | 159741019 | intergenic variant | G/C | snv | 0.40 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||||
|
1 | 11 | 81025386 | intron variant | C/G;T | snv | 0.700 | 1.000 | 1 | 2012 | 2012 | |||||||
|
1 | 1 | 207589329 | intron variant | G/A | snv | 0.22 | 0.700 | 1.000 | 1 | 2012 | 2012 |