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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
10 | 0.925 | 0.080 | 2 | 217818431 | missense variant | A/G;T | snv | 0.62 | 0.800 | 1.000 | 5 | 2010 | 2019 | ||||
|
4 | 10 | 76555466 | intron variant | G/A | snv | 0.41 | 0.800 | 1.000 | 3 | 2011 | 2015 | ||||||
|
4 | 2 | 238955452 | regulatory region variant | C/G;T | snv | 0.800 | 1.000 | 2 | 2011 | 2012 | |||||||
|
6 | 1.000 | 0.040 | 3 | 25479091 | intron variant | C/A;T | snv | 0.800 | 1.000 | 2 | 2012 | 2019 | |||||
|
6 | 1.000 | 0.040 | 4 | 144564586 | intron variant | C/T | snv | 0.31 | 0.800 | 1.000 | 2 | 2012 | 2015 | ||||
|
82 | 0.561 | 0.760 | 6 | 32183666 | missense variant | C/T | snv | 5.3E-02 | 3.6E-02 | 0.800 | 1.000 | 2 | 2012 | 2019 | |||
|
5 | 6 | 108946847 | intron variant | C/T | snv | 0.15 | 0.800 | 1.000 | 2 | 2012 | 2019 | ||||||
|
9 | 0.827 | 0.320 | 6 | 31600692 | intergenic variant | G/A | snv | 0.27 | 0.800 | 1.000 | 2 | 2011 | 2012 | ||||
|
11 | 0.827 | 0.120 | 4 | 88948181 | intron variant | T/C | snv | 0.49 | 0.800 | 1.000 | 2 | 2012 | 2015 | ||||
|
5 | 1.000 | 0.040 | 10 | 12235993 | intron variant | C/T | snv | 0.43 | 0.800 | 1.000 | 2 | 2011 | 2012 | ||||
|
17 | 0.742 | 0.240 | 15 | 78618839 | synonymous variant | T/C | snv | 0.35 | 0.37 | 0.800 | 1.000 | 2 | 2012 | 2015 | |||
|
3 | 18 | 10078074 | regulatory region variant | G/A | snv | 0.22 | 0.800 | 1.000 | 2 | 2012 | 2019 | ||||||
|
2 | 17 | 71129465 | intron variant | G/T | snv | 0.30 | 0.800 | 1.000 | 1 | 2012 | 2012 | ||||||
|
2 | 16 | 78154006 | intron variant | A/C;G | snv | 0.800 | 1.000 | 1 | 2012 | 2012 | |||||||
|
2 | 9 | 116551938 | intron variant | A/G | snv | 0.58 | 0.800 | 1.000 | 1 | 2012 | 2012 | ||||||
|
4 | 4 | 105886950 | intron variant | G/A | snv | 4.5E-02 | 0.800 | 1.000 | 1 | 2012 | 2012 | ||||||
|
2 | 1 | 17265184 | intron variant | T/C | snv | 3.7E-02 | 0.800 | 1.000 | 1 | 2012 | 2012 | ||||||
|
2 | 6 | 150249731 | 3 prime UTR variant | A/C;G | snv | 0.800 | 1.000 | 1 | 2012 | 2012 | |||||||
|
2 | 16 | 78154599 | intron variant | G/A;C | snv | 0.800 | 1.000 | 1 | 2012 | 2012 | |||||||
|
5 | 1.000 | 0.040 | 4 | 105897896 | splice region variant | G/A;T | snv | 0.17 | 0.700 | 1.000 | 3 | 2015 | 2019 | ||||
|
2 | 4 | 144513536 | intron variant | T/C | snv | 0.68 | 0.700 | 1.000 | 2 | 2015 | 2015 | ||||||
|
4 | 4 | 105767747 | intron variant | A/G | snv | 5.4E-02 | 0.700 | 1.000 | 2 | 2010 | 2017 | ||||||
|
2 | 12 | 114763631 | intron variant | G/A;C | snv | 0.700 | 1.000 | 2 | 2015 | 2019 | |||||||
|
1 | 22 | 17967521 | intron variant | A/T | snv | 0.20 | 0.700 | 1.000 | 2 | 2015 | 2017 | ||||||
|
3 | 7 | 156334552 | intergenic variant | G/A | snv | 0.40 | 0.700 | 1.000 | 2 | 2017 | 2019 |