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 | 8 | 19967052 | 3 prime UTR variant | T/C | snv | 0.13 | 0.700 | 1.000 | 1 | 2009 | 2009 | ||||||
|
5 | 1 | 62652525 | intron variant | A/C;T | snv | 0.700 | 1.000 | 1 | 2009 | 2009 | |||||||
|
1 | 16 | 15054789 | intron variant | C/A | snv | 0.22 | 0.800 | 1.000 | 1 | 2012 | 2012 | ||||||
|
1 | 4 | 72456848 | intron variant | T/C | snv | 5.7E-03 | 0.800 | 1.000 | 1 | 2012 | 2012 | ||||||
|
7 | 8 | 20054859 | intergenic variant | G/A | snv | 9.8E-02 | 0.800 | 1.000 | 1 | 2012 | 2012 | ||||||
|
4 | 16 | 15078261 | intron variant | T/C | snv | 0.21 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||||
|
6 | 1 | 62465961 | intron variant | C/A | snv | 0.57 | 0.700 | 1.000 | 1 | 2009 | 2009 | ||||||
|
1 | 1 | 62503731 | intron variant | G/A;C | snv | 0.800 | 1.000 | 1 | 2012 | 2012 | |||||||
|
2 | 1 | 62494579 | non coding transcript exon variant | T/C | snv | 0.61 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||||
|
4 | 2 | 21018633 | intron variant | A/G | snv | 0.14 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||||
|
1 | 7 | 73596112 | intron variant | C/T | snv | 0.15 | 0.15 | 0.800 | 1.000 | 1 | 2012 | 2012 | |||||
|
4 | 1 | 55159875 | intron variant | C/T | snv | 3.8E-02 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||||
|
4 | 19 | 11089332 | upstream gene variant | C/T | snv | 3.3E-03 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||||
|
2 | 13 | 92670893 | intron variant | T/C | snv | 0.22 | 0.700 | 1.000 | 1 | 2008 | 2008 | ||||||
|
1 | 11 | 68794860 | missense variant | C/G;T | snv | 0.700 | 1.000 | 1 | 2012 | 2012 | |||||||
|
1 | 17 | 4871519 | intron variant | C/G | snv | 4.8E-03 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||||
|
1 | 11 | 67361262 | intron variant | G/A;T | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||||
|
1 | 19 | 19141970 | upstream gene variant | G/A | snv | 3.5E-03 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||||
|
2 | 11 | 68794860 | missense variant | C/G;T | snv | 6.3E-02 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||||
|
7 | 9 | 104903458 | intron variant | G/A | snv | 0.24 | 0.800 | 1.000 | 1 | 2012 | 2012 | ||||||
|
2 | 2 | 21155933 | regulatory region variant | A/G | snv | 0.75 | 0.700 | 1.000 | 1 | 2009 | 2009 | ||||||
|
4 | 8 | 19962894 | intron variant | G/A | snv | 0.30 | 0.700 | 1.000 | 1 | 2009 | 2009 | ||||||
|
1 | 15 | 58388444 | intron variant | G/T | snv | 0.38 | 0.800 | 1.000 | 1 | 2012 | 2012 | ||||||
|
4 | 2 | 21174310 | intergenic variant | G/A;C;T | snv | 0.700 | 1.000 | 1 | 2009 | 2009 | |||||||
|
6 | 20 | 45925376 | downstream gene variant | T/A;C;G | snv | 0.700 | 1.000 | 1 | 2009 | 2009 |