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 | 230169242 | intron variant | A/C;G | snv | 0.800 | 1.000 | 1 | 2010 | 2010 | |||||||
|
4 | 1.000 | 0.040 | 16 | 67674994 | 3 prime UTR variant | A/G | snv | 0.30 | 0.800 | 1.000 | 1 | 2010 | 2010 | ||||
|
14 | 0.882 | 0.160 | 19 | 44892009 | intron variant | G/A | snv | 0.69 | 0.800 | 1.000 | 1 | 2009 | 2009 | ||||
|
5 | 3 | 132444356 | intron variant | G/T | snv | 0.10 | 0.800 | 1.000 | 1 | 2013 | 2013 | ||||||
|
4 | 1.000 | 0.120 | 3 | 11358775 | intron variant | C/A;T | snv | 0.800 | 1.000 | 1 | 2013 | 2013 | |||||
|
3 | 1.000 | 0.040 | 6 | 34585020 | downstream gene variant | G/A | snv | 0.20 | 0.800 | 1.000 | 1 | 2010 | 2010 | ||||
|
4 | 1.000 | 0.040 | 9 | 104884939 | intron variant | C/T | snv | 0.46 | 0.800 | 1.000 | 1 | 2008 | 2008 | ||||
|
3 | 1.000 | 0.040 | 9 | 15289580 | intron variant | C/T | snv | 0.87 | 0.800 | 1.000 | 1 | 2009 | 2009 | ||||
|
6 | 1.000 | 0.080 | 19 | 44873027 | intron variant | C/G;T | snv | 0.800 | 1.000 | 1 | 2011 | 2011 | |||||
|
2 | 18 | 49632720 | intergenic variant | A/G | snv | 0.86 | 0.800 | 1.000 | 1 | 2008 | 2008 | ||||||
|
5 | 0.882 | 0.080 | 11 | 48497341 | downstream gene variant | A/G | snv | 0.56 | 0.800 | 1.000 | 1 | 2009 | 2009 | ||||
|
9 | 0.925 | 0.160 | 20 | 45947863 | 3 prime UTR variant | T/C | snv | 0.13 | 0.800 | 1.000 | 1 | 2009 | 2009 | ||||
|
3 | 1.000 | 0.040 | 17 | 2525214 | intergenic variant | C/T | snv | 0.17 | 0.800 | 1.000 | 1 | 2009 | 2009 | ||||
|
3 | 2 | 218439407 | intron variant | G/A | snv | 4.1E-02 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||||
|
4 | 5 | 173965395 | downstream gene variant | A/T | snv | 0.26 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
1 | 8 | 143221248 | downstream gene variant | G/A | snv | 0.37 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
1 | 8 | 29502788 | intergenic variant | A/C | snv | 0.57 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
2 | 2 | 65048915 | intron variant | T/C | snv | 0.51 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
2 | 8 | 19964304 | intron variant | T/G | snv | 0.20 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||||
|
2 | 8 | 19970337 | downstream gene variant | C/A | snv | 0.42 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
4 | 8 | 10156645 | intron variant | G/C | snv | 5.1E-02 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||||
|
4 | 1 | 172377408 | intron variant | G/A | snv | 0.46 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||||
|
2 | 9 | 104898869 | intron variant | C/A;T | snv | 0.700 | 1.000 | 1 | 2012 | 2012 | |||||||
|
3 | 9 | 134415237 | intron variant | G/T | snv | 1.2E-02 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||||
|
4 | 1 | 230160042 | intron variant | A/G;T | snv | 0.700 | 1.000 | 1 | 2019 | 2019 |