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 | 10 | 45529281 | intron variant | A/G | snv | 0.31 | 0.800 | 1.000 | 1 | 2009 | 2009 | ||||||
|
2 | 7 | 50360730 | intron variant | C/A;T | snv | 0.800 | 1.000 | 1 | 2009 | 2009 | |||||||
|
2 | 22 | 50533323 | upstream gene variant | A/C;G;T | snv | 0.800 | 1.000 | 1 | 2009 | 2009 | |||||||
|
4 | 6 | 25842723 | intron variant | T/G | snv | 4.0E-02 | 0.700 | 1.000 | 1 | 2009 | 2009 | ||||||
|
3 | 2 | 60381624 | intron variant | T/C | snv | 0.29 | 0.800 | 1.000 | 1 | 2009 | 2009 | ||||||
|
2 | 14 | 65008822 | intron variant | C/A;G | snv | 0.800 | 1.000 | 1 | 2009 | 2009 | |||||||
|
2 | 16 | 254804 | intron variant | A/T | snv | 0.55 | 0.800 | 1.000 | 1 | 2009 | 2009 | ||||||
|
3 | 7 | 100616392 | downstream gene variant | A/G | snv | 0.22 | 0.800 | 1.000 | 1 | 2009 | 2009 | ||||||
|
3 | 22 | 32471541 | upstream gene variant | G/A | snv | 0.24 | 0.700 | 1.000 | 1 | 2009 | 2009 | ||||||
|
2 | 4 | 54541595 | intergenic variant | C/G | snv | 0.17 | 0.800 | 1.000 | 2 | 2009 | 2010 | ||||||
|
1 | 1 | 247882970 | downstream gene variant | C/T | snv | 0.55 | 0.700 | 1.000 | 1 | 2010 | 2010 | ||||||
|
4 | 6 | 109313625 | intron variant | A/G | snv | 0.26 | 0.700 | 1.000 | 1 | 2010 | 2010 | ||||||
|
4 | 10 | 45459616 | intron variant | C/T | snv | 7.1E-02 | 0.700 | 1.000 | 1 | 2010 | 2010 | ||||||
|
4 | 22 | 21610472 | intron variant | G/A | snv | 0.21 | 0.700 | 1.000 | 1 | 2010 | 2010 | ||||||
|
4 | 3 | 196180782 | intergenic variant | T/C | snv | 0.12 | 0.700 | 1.000 | 1 | 2010 | 2010 | ||||||
|
2 | 20 | 57416639 | regulatory region variant | G/A | snv | 0.36 | 0.700 | 1.000 | 1 | 2010 | 2010 | ||||||
|
4 | 1.000 | 0.040 | 10 | 46002468 | intron variant | C/T | snv | 9.5E-02 | 0.700 | 1.000 | 1 | 2010 | 2010 | ||||
|
262 | 0.435 | 0.880 | 6 | 26092913 | missense variant | G/A | snv | 3.3E-02 | 3.8E-02 | 0.800 | 1.000 | 4 | 2009 | 2012 | |||
|
14 | 0.851 | 0.160 | 22 | 37073551 | missense variant | G/A;C | snv | 0.53; 4.0E-06 | 0.800 | 1.000 | 2 | 2009 | 2012 | ||||
|
10 | 0.925 | 0.080 | 6 | 135105435 | upstream gene variant | A/G | snv | 0.21 | 0.800 | 1.000 | 2 | 2009 | 2012 | ||||
|
5 | 6 | 139512875 | intron variant | T/G | snv | 0.57 | 0.800 | 1.000 | 2 | 2010 | 2012 | ||||||
|
4 | 6 | 135131014 | intergenic variant | G/A;C;T | snv | 0.800 | 1.000 | 2 | 2010 | 2012 | |||||||
|
11 | 0.925 | 0.080 | 6 | 135111414 | intergenic variant | T/A;C | snv | 0.800 | 1.000 | 2 | 2010 | 2012 | |||||
|
2 | 2 | 111092082 | intron variant | A/G | snv | 0.48 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||||
|
4 | 6 | 41953503 | intron variant | G/T | snv | 0.13 | 0.700 | 1.000 | 1 | 2012 | 2012 |