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 | 171980610 | intron variant | T/C | snv | 0.78 | 0.800 | 1.000 | 4 | 2009 | 2014 | ||||||
|
2 | 1 | 205275825 | intron variant | G/A | snv | 0.30 | 0.800 | 1.000 | 2 | 2011 | 2014 | ||||||
|
2 | 1 | 205266862 | intron variant | G/A | snv | 0.27 | 0.800 | 1.000 | 2 | 2009 | 2012 | ||||||
|
1 | 1 | 112567997 | intron variant | T/C | snv | 0.50 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||||
|
2 | 1 | 7734229 | intron variant | A/G | snv | 0.62 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||||
|
1 | 1 | 10211630 | 5 prime UTR variant | C/G | snv | 0.20 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||||
|
2 | 1 | 205275844 | intron variant | T/A | snv | 0.30 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||||
|
11 | 0.776 | 0.200 | 1 | 156899922 | intron variant | G/A | snv | 0.19 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||
|
1 | 1 | 207107394 | intron variant | A/T | snv | 0.10 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||||
|
2 | 1 | 25562931 | non coding transcript exon variant | C/A;T | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||||
|
2 | 1 | 247875992 | missense variant | G/A | snv | 0.12 | 0.10 | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||
|
6 | 1 | 199041592 | non coding transcript exon variant | C/T | snv | 0.76 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||||
|
1 | 1 | 156911263 | intron variant | CCTC/- | delins | 0.10 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||||
|
5 | 1 | 3080038 | intron variant | T/C | snv | 0.73 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||||
|
1 | 1 | 28877395 | upstream gene variant | T/A;C | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||||
|
3 | 1 | 10226118 | intron variant | G/A;C | snv | 0.800 | 1.000 | 1 | 2011 | 2011 | |||||||
|
2 | 1 | 45345193 | missense variant | G/A | snv | 5.2E-02 | 5.1E-02 | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||
|
2 | 1 | 171970501 | intron variant | A/G;T | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||||
|
1 | 1 | 171977878 | intron variant | T/A;G | snv | 0.700 | 1.000 | 1 | 2014 | 2014 | |||||||
|
1 | 1 | 111190089 | intron variant | G/A;C | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||||
|
1 | 1 | 204982081 | intron variant | C/T | snv | 0.22 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||||
|
1 | 1 | 171675446 | upstream gene variant | G/A | snv | 0.15 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||||
|
1 | 1 | 154119580 | intron variant | C/A;G;T | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||||
|
1 | 1 | 159922298 | intron variant | G/A | snv | 0.32 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||||
|
13 | 1 | 212617344 | intron variant | T/A;C | snv | 0.700 | 1.000 | 1 | 2019 | 2019 |