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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
5 | 0.851 | 0.200 | 17 | 39872381 | missense variant | G/T | snv | 0.45 | 0.45 | 0.700 | 1.000 | 2 | 2012 | 2012 | |||
|
3 | 0.925 | 0.160 | 17 | 39872867 | intron variant | C/G;T | snv | 0.700 | 1.000 | 2 | 2012 | 2012 | |||||
|
2 | 0.925 | 0.160 | 17 | 39877024 | 3 prime UTR variant | A/C | snv | 0.40 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||
|
1 | 1.000 | 0.080 | 17 | 39875421 | synonymous variant | C/T | snv | 0.40 | 0.35 | 0.700 | 1.000 | 1 | 2012 | 2012 | |||
|
3 | 0.925 | 0.120 | 17 | 39875461 | intron variant | C/T | snv | 0.39 | 0.40 | 0.700 | 1.000 | 1 | 2012 | 2012 | |||
|
3 | 0.925 | 0.160 | 17 | 39868955 | intron variant | T/C | snv | 0.36 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||
|
3 | 0.925 | 0.160 | 17 | 39868373 | synonymous variant | C/T | snv | 0.40 | 0.36 | 0.700 | 1.000 | 1 | 2012 | 2012 | |||
|
1 | 1.000 | 0.080 | 17 | 39870033 | intron variant | A/C;T | snv | 0.700 | 1.000 | 1 | 2012 | 2012 | |||||
|
3 | 0.925 | 0.160 | 17 | 39873952 | intron variant | T/A | snv | 0.40 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||
|
1 | 1.000 | 0.080 | 17 | 39871147 | intron variant | A/G | snv | 0.40 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||
|
1 | 1.000 | 0.080 | 17 | 39871330 | intron variant | A/G | snv | 0.40 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||
|
1 | 1.000 | 0.080 | 17 | 39876207 | intron variant | C/T | snv | 0.36 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||
|
6 | 0.807 | 0.160 | 17 | 39876427 | intron variant | T/C | snv | 0.35 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||
|
1 | 1.000 | 0.080 | 17 | 39875612 | intron variant | T/A;G | snv | 0.700 | 1.000 | 1 | 2012 | 2012 | |||||
|
4 | 0.925 | 0.160 | 17 | 39867492 | upstream gene variant | A/G | snv | 0.38 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||
|
1 | 1.000 | 0.080 | 17 | 39875549 | intron variant | T/A | snv | 0.39 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||
|
1 | 1.000 | 0.080 | 17 | 39874777 | intron variant | G/A | snv | 0.43 | 0.700 | 1.000 | 1 | 2012 | 2012 |