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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
2 | 2 | 233755941 | non coding transcript exon variant | CTCT/-;CT | delins | 0.37 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
5 | 0.925 | 0.120 | 2 | 233758936 | intron variant | A/C;G;T | snv | 0.800 | 1.000 | 1 | 2009 | 2015 | |||||
|
2 | 2 | 233764593 | intron variant | G/A;T | snv | 0.33 | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||||
|
2 | 2 | 233764076 | intron variant | T/A;G | snv | 0.36 | 0.800 | 1.000 | 1 | 2012 | 2015 | ||||||
|
5 | 1.000 | 2 | 233735091 | intron variant | A/T | snv | 0.46 | 0.700 | 1.000 | 1 | 2015 | 2015 | |||||
|
5 | 1.000 | 2 | 233746667 | intron variant | C/A;T | snv | 0.800 | 1.000 | 1 | 2009 | 2015 | ||||||
|
2 | 2 | 233768740 | intron variant | G/A | snv | 0.18 | 0.800 | 1.000 | 1 | 2009 | 2018 | ||||||
|
2 | 2 | 233756119 | non coding transcript exon variant | T/C | snv | 0.30 | 0.800 | 1.000 | 1 | 2012 | 2015 | ||||||
|
2 | 2 | 233755708 | non coding transcript exon variant | G/A | snv | 0.30 | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||||
|
1 | 2 | 233732958 | intron variant | C/G;T | snv | 0.700 | 1.000 | 1 | 2018 | 2018 | |||||||
|
1 | 2 | 233736540 | intron variant | G/T | snv | 0.37 | 0.800 | 1.000 | 1 | 2009 | 2019 | ||||||
|
2 | 2 | 233749470 | intron variant | C/T | snv | 0.37 | 0.800 | 1.000 | 1 | 2009 | 2015 | ||||||
|
1 | 1.000 | 0.040 | 2 | 233772999 | 3 prime UTR variant | G/C | snv | 0.72 | 0.800 | 1.000 | 1 | 2009 | 2018 |