| 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. | ||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
1 | 1 | 156138701 | missense variant | G/A;T | snv | 1.4E-04; 4.0E-06 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||||
|
1 | 17 | 30234737 | intron variant | A/T | snv | 0.14 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||||
|
1 | 1 | 156136335 | missense variant | C/T | snv | 2.4E-05 | 2.1E-05 | 0.010 | 1.000 | 1 | 2017 | 2017 | |||||
|
1 | 1 | 156136245 | missense variant | C/T | snv | 2.4E-05 | 3.5E-05 | 0.010 | 1.000 | 1 | 2017 | 2017 | |||||
|
1 | 1 | 156139089 | missense variant | A/G | snv | 1.2E-04 | 1.0E-04 | 0.010 | 1.000 | 1 | 2017 | 2017 | |||||
|
1 | 3 | 8761315 | intron variant | G/A | snv | 0.12 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||||
|
2 | 1 | 29958713 | intergenic variant | G/A | snv | 0.54 | 0.700 | 1.000 | 1 | 2010 | 2010 | ||||||
|
2 | 2 | 133247997 | intron variant | G/A | snv | 0.18 | 0.800 | 1.000 | 1 | 2010 | 2010 | ||||||
|
2 | 1.000 | 0.080 | 9 | 2548556 | intron variant | C/G;T | snv | 0.010 | 1.000 | 1 | 2013 | 2013 | |||||
|
2 | 7 | 156255955 | intergenic variant | T/G | snv | 0.45 | 0.800 | 1.000 | 1 | 2010 | 2010 | ||||||
|
2 | 1.000 | 0.080 | 7 | 5581212 | regulatory region variant | C/A;G | snv | 0.010 | 1.000 | 1 | 2013 | 2013 | |||||
|
2 | 1 | 92913536 | intron variant | G/A | snv | 0.35 | 0.700 | 1.000 | 1 | 2010 | 2010 | ||||||
|
2 | 5 | 157515277 | intron variant | A/G | snv | 7.1E-02 | 0.800 | 1.000 | 1 | 2010 | 2010 | ||||||
|
2 | 9 | 118597268 | intergenic variant | C/A | snv | 0.44 | 0.700 | 1.000 | 1 | 2010 | 2010 | ||||||
|
2 | 11 | 18244252 | intron variant | C/G;T | snv | 0.800 | 1.000 | 1 | 2010 | 2010 | |||||||
|
2 | 1.000 | 0.080 | 12 | 130150660 | non coding transcript exon variant | T/C | snv | 6.8E-02 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
2 | 6 | 89018502 | intergenic variant | T/A | snv | 0.23 | 0.700 | 1.000 | 1 | 2010 | 2010 | ||||||
|
2 | 1 | 92936280 | intron variant | A/G | snv | 0.36 | 0.800 | 1.000 | 1 | 2010 | 2010 | ||||||
|
2 | 6 | 108002555 | downstream gene variant | G/A | snv | 1.9E-02 | 0.800 | 1.000 | 1 | 2010 | 2010 | ||||||
|
2 | 3 | 43189231 | intergenic variant | C/G | snv | 5.9E-02 | 0.800 | 1.000 | 1 | 2011 | 2011 | ||||||
|
2 | 5 | 63961656 | missense variant | C/G;T | snv | 3.2E-04 | 0.010 | 1.000 | 1 | 2008 | 2008 | ||||||
|
2 | 5 | 63961638 | missense variant | T/C | snv | 9.4E-03 | 9.3E-03 | 0.010 | 1.000 | 1 | 2008 | 2008 | |||||
|
2 | 9 | 87416754 | regulatory region variant | G/C | snv | 7.4E-02 | 0.800 | 1.000 | 1 | 2010 | 2010 | ||||||
|
2 | 8 | 57928349 | intron variant | G/A;T | snv | 0.700 | 1.000 | 1 | 2010 | 2010 | |||||||
|
2 | 8 | 57928365 | intron variant | C/T | snv | 0.14 | 0.800 | 1.000 | 1 | 2010 | 2010 |