| 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. | ||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
27 | 0.724 | 0.360 | 1 | 109279544 | downstream gene variant | G/A;C | snv | 0.700 | 1.000 | 2 | 2011 | 2012 | |||||
|
1 | 1 | 62498066 | intron variant | G/A | snv | 0.57 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||||
|
1 | 1 | 62471241 | intron variant | T/A;C;G | snv | 0.700 | 1.000 | 1 | 2012 | 2012 | |||||||
|
1 | 1 | 62627946 | 3 prime UTR variant | C/T | snv | 0.43 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||||
|
1 | 1 | 62447248 | intron variant | C/T | snv | 0.33 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||||
|
1 | 1 | 62555145 | intron variant | C/A | snv | 0.36 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||||
|
1 | 1 | 62440222 | intron variant | C/T | snv | 0.33 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||||
|
1 | 1 | 89661254 | non coding transcript exon variant | A/G;T | snv | 0.700 | 1.000 | 1 | 2013 | 2013 | |||||||
|
1 | 1 | 100341341 | upstream gene variant | C/G | snv | 0.21 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||||
|
1 | 1 | 151910380 | upstream gene variant | C/G;T | snv | 0.700 | 1.000 | 1 | 2014 | 2014 | |||||||
|
1 | 1 | 62492087 | intron variant | T/C | snv | 0.33 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||||
|
1 | 1 | 62549528 | intron variant | A/T | snv | 0.36 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||||
|
1 | 1 | 62568551 | intron variant | T/C | snv | 0.33 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||||
|
1 | 1 | 62577067 | intron variant | A/G | snv | 0.34 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||||
|
5 | 1 | 62606594 | intron variant | A/C;T | snv | 0.700 | 1.000 | 1 | 2012 | 2012 | |||||||
|
1 | 1 | 62629021 | 3 prime UTR variant | A/G | snv | 0.34 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||||
|
1 | 1 | 62632564 | intron variant | G/A | snv | 0.34 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||||
|
1 | 1 | 193924556 | intron variant | G/A | snv | 0.37 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||||
|
1 | 1 | 89660375 | intron variant | C/T | snv | 0.35 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||||
|
1 | 1 | 55260846 | intron variant | T/C;G | snv | 0.700 | 1.000 | 1 | 2012 | 2012 | |||||||
|
1 | 1 | 62473795 | intron variant | G/C | snv | 0.39 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||||
|
1 | 1 | 62477336 | intron variant | G/T | snv | 0.57 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||||
|
4 | 1.000 | 0.120 | 1 | 62485187 | 3 prime UTR variant | C/T | snv | 0.39 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||
|
2 | 1 | 62491359 | intron variant | G/A | snv | 0.33 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||||
|
1 | 1 | 62491528 | intron variant | C/G | snv | 0.34 | 0.700 | 1.000 | 1 | 2012 | 2012 |