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 | 22 | 47136753 | intron variant | A/G | snv | 0.73 | 0.800 | 1.000 | 1 | 2010 | 2010 | ||||||
|
3 | 1.000 | 0.040 | 12 | 120925921 | TF binding site variant | T/C | snv | 0.68 | 0.800 | 1.000 | 1 | 2010 | 2010 | ||||
|
1 | 6 | 106381662 | intron variant | T/C | snv | 0.48 | 0.800 | 1.000 | 1 | 2010 | 2010 | ||||||
|
1 | 4 | 136739228 | intergenic variant | T/A;C | snv | 0.800 | 1.000 | 1 | 2010 | 2010 | |||||||
|
1 | 6 | 166292681 | intergenic variant | A/G;T | snv | 0.800 | 1.000 | 1 | 2010 | 2010 | |||||||
|
1 | 15 | 53513628 | downstream gene variant | C/A | snv | 0.37 | 0.800 | 1.000 | 1 | 2010 | 2010 | ||||||
|
1 | 12 | 131600651 | upstream gene variant | G/A | snv | 0.41 | 0.800 | 1.000 | 1 | 2010 | 2010 | ||||||
|
2 | 11 | 3015094 | intron variant | C/T | snv | 0.45 | 0.800 | 1.000 | 1 | 2010 | 2010 | ||||||
|
1 | 14 | 28552722 | intergenic variant | C/T | snv | 0.38 | 0.800 | 1.000 | 1 | 2010 | 2010 | ||||||
|
1 | 9 | 134812936 | intron variant | G/A | snv | 0.62 | 0.800 | 1.000 | 1 | 2010 | 2010 | ||||||
|
1 | 13 | 98474049 | intron variant | A/C | snv | 0.55 | 0.800 | 1.000 | 1 | 2010 | 2010 | ||||||
|
1 | 13 | 71309082 | intergenic variant | G/A | snv | 0.24 | 0.800 | 1.000 | 1 | 2010 | 2010 | ||||||
|
1 | 22 | 50666252 | upstream gene variant | G/A;C | snv | 0.800 | 1.000 | 1 | 2010 | 2010 | |||||||
|
1 | 10 | 87578876 | intergenic variant | A/C | snv | 0.84 | 0.800 | 1.000 | 1 | 2010 | 2010 | ||||||
|
1 | 3 | 48445934 | intron variant | A/G;T | snv | 0.800 | 1.000 | 1 | 2010 | 2010 | |||||||
|
1 | 3 | 162964207 | intergenic variant | G/A | snv | 0.37 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||||
|
45 | 0.662 | 0.360 | 19 | 44892362 | intron variant | A/G | snv | 0.13 | 0.13 | 0.800 | 1.000 | 2 | 2011 | 2012 | |||
|
43 | 0.708 | 0.520 | 19 | 44919689 | downstream gene variant | A/G | snv | 0.18 | 0.800 | 1.000 | 2 | 2011 | 2014 | ||||
|
1 | 8 | 71382353 | intron variant | G/A;C | snv | 0.700 | 1.000 | 1 | 2014 | 2014 | |||||||
|
5 | 0.882 | 0.080 | 5 | 158393594 | intron variant | C/T | snv | 0.37 | 0.700 | 1.000 | 1 | 2014 | 2014 | ||||
|
1 | 8 | 31147066 | missense variant | T/G | snv | 0.700 | 1.000 | 1 | 2015 | 2015 | |||||||
|
1 | 17 | 62516455 | non coding transcript exon variant | G/A | snv | 1.0E-02 | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||||
|
1 | 6 | 102438768 | intergenic variant | C/G | snv | 0.35 | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||||
|
1 | 7 | 92134309 | missense variant | A/G | snv | 4.3E-06 | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||||
|
1 | 12 | 130437119 | missense variant | G/A;C | snv | 9.2E-06; 5.3E-04 | 0.700 | 1.000 | 1 | 2015 | 2015 |