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 | 1 | 156232382 | missense variant | A/C;G | snv | 1.0E-03; 0.38 | 0.700 | 1.000 | 1 | 2014 | 2014 | ||||
|
1 | 1 | 156214477 | intron variant | T/C | snv | 0.30 | 0.700 | 1.000 | 1 | 2014 | 2014 | ||||||
|
1 | 1 | 156214667 | intron variant | T/A;C | snv | 0.700 | 1.000 | 1 | 2014 | 2014 | |||||||
|
1 | 1 | 156187160 | downstream gene variant | G/C;T | snv | 0.700 | 1.000 | 1 | 2014 | 2014 | |||||||
|
3 | 1.000 | 0.120 | 1 | 156199819 | non coding transcript exon variant | A/G | snv | 0.34 | 0.43 | 0.700 | 1.000 | 1 | 2014 | 2014 | |||
|
2 | 1.000 | 0.040 | 1 | 156212919 | upstream gene variant | T/C;G | snv | 0.700 | 1.000 | 1 | 2014 | 2014 | |||||
|
1 | 1 | 156211216 | 3 prime UTR variant | C/G | snv | 0.43 | 0.700 | 1.000 | 1 | 2014 | 2014 | ||||||
|
1 | 1 | 156214807 | intron variant | G/A | snv | 0.30 | 0.700 | 1.000 | 1 | 2014 | 2014 | ||||||
|
1 | 1 | 156226097 | intron variant | C/A;T | snv | 0.700 | 1.000 | 1 | 2014 | 2014 | |||||||
|
1 | 1 | 156233018 | intron variant | G/C | snv | 0.41 | 0.700 | 1.000 | 1 | 2014 | 2014 | ||||||
|
1 | 1 | 156234256 | intron variant | G/A | snv | 0.38 | 0.700 | 1.000 | 1 | 2014 | 2014 | ||||||
|
2 | 1.000 | 0.040 | 1 | 156201505 | intron variant | C/G | snv | 0.42 | 0.700 | 1.000 | 1 | 2014 | 2014 | ||||
|
1 | 1 | 156202334 | intron variant | T/C;G | snv | 0.43 | 0.700 | 1.000 | 1 | 2014 | 2014 | ||||||
|
1 | 1 | 156203894 | intron variant | T/C | snv | 0.42 | 0.700 | 1.000 | 1 | 2014 | 2014 | ||||||
|
1 | 1 | 156218423 | intron variant | A/G | snv | 0.43 | 0.700 | 1.000 | 1 | 2014 | 2014 | ||||||
|
1 | 1 | 156214956 | intron variant | T/C | snv | 0.43 | 0.700 | 1.000 | 1 | 2014 | 2014 | ||||||
|
1 | 1 | 156195094 | intron variant | C/G | snv | 0.30 | 0.700 | 1.000 | 1 | 2014 | 2014 | ||||||
|
1 | 1 | 156204684 | intron variant | T/C | snv | 0.42 | 0.700 | 1.000 | 1 | 2014 | 2014 | ||||||
|
1 | 1 | 156232849 | intron variant | C/T | snv | 0.34 | 0.700 | 1.000 | 1 | 2014 | 2014 | ||||||
|
1 | 1 | 156226225 | intron variant | T/C | snv | 0.35 | 0.700 | 1.000 | 1 | 2014 | 2014 | ||||||
|
1 | 1 | 156224548 | intron variant | G/A | snv | 0.30 | 0.700 | 1.000 | 1 | 2014 | 2014 | ||||||
|
1 | 1 | 156225414 | intron variant | C/T | snv | 0.30 | 0.700 | 1.000 | 1 | 2014 | 2014 | ||||||
|
2 | 1 | 156229203 | intron variant | T/C | snv | 0.37 | 0.700 | 1.000 | 1 | 2014 | 2014 | ||||||
|
1 | 1 | 156230654 | intron variant | G/C | snv | 0.37 | 0.700 | 1.000 | 1 | 2014 | 2014 | ||||||
|
1 | 1 | 156232968 | intron variant | G/A;T | snv | 0.700 | 1.000 | 1 | 2014 | 2014 |