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 | 14 | 68847342 | intergenic variant | G/A | snv | 0.27 | 0.800 | 1.000 | 1 | 2013 | 2013 | ||||||
|
3 | 16 | 53158419 | intron variant | T/C | snv | 0.31 | 0.800 | 1.000 | 1 | 2013 | 2013 | ||||||
|
4 | 1.000 | 0.080 | 11 | 60173126 | missense variant | T/A | snv | 0.31 | 0.27 | 0.700 | 1.000 | 1 | 2013 | 2013 | |||
|
3 | 10 | 63402393 | intron variant | G/A;C | snv | 0.800 | 1.000 | 1 | 2013 | 2013 | |||||||
|
3 | 12 | 50740958 | intron variant | A/G | snv | 0.28 | 0.800 | 1.000 | 1 | 2013 | 2013 | ||||||
|
8 | 0.851 | 0.080 | 15 | 78521704 | intron variant | G/A | snv | 0.67 | 0.700 | 1.000 | 1 | 2014 | 2014 | ||||
|
4 | 0.925 | 0.080 | 1 | 109757069 | missense variant | G/A | snv | 9.4E-02 | 0.16 | 0.700 | 1.000 | 1 | 2014 | 2014 | |||
|
3 | 1 | 247442297 | intron variant | C/G;T | snv | 0.800 | 1.000 | 2 | 2013 | 2016 | |||||||
|
6 | 5 | 132335969 | synonymous variant | C/G | snv | 3.1E-02 | 2.8E-02 | 0.800 | 1.000 | 2 | 2009 | 2016 | |||||
|
6 | 1.000 | 0.080 | 4 | 154568456 | missense variant | C/T | snv | 2.4E-03 | 2.7E-03 | 0.800 | 1.000 | 2 | 2011 | 2016 | |||
|
2 | 1.000 | 0.040 | 8 | 143960684 | intron variant | G/A | snv | 0.30 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||
|
1 | 16 | 53147335 | intron variant | C/T | snv | 0.28 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||||
|
1 | 15 | 50722519 | intron variant | C/T | snv | 0.24 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||||
|
4 | 1.000 | 0.080 | 4 | 154611883 | missense variant | G/C | snv | 1.9E-03 | 2.2E-03 | 0.700 | 1.000 | 1 | 2016 | 2016 | |||
|
1 | 4 | 154567149 | intron variant | A/C | snv | 9.5E-03 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||||
|
7 | 0.925 | 0.120 | 1 | 65640261 | 3 prime UTR variant | C/T | snv | 0.44 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||
|
1 | 5 | 132471932 | non coding transcript exon variant | G/A | snv | 0.24 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||||
|
1 | 10 | 89249122 | intron variant | C/T | snv | 0.38 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||||
|
1 | 10 | 121080764 | regulatory region variant | G/A | snv | 0.25 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||||
|
1 | 12 | 50666567 | intron variant | C/T | snv | 0.28 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||||
|
2 | 1.000 | 0.080 | X | 122083259 | intergenic variant | T/A;C;G | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||
|
1 | 14 | 68806373 | intergenic variant | A/G | snv | 0.25 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||||
|
1 | 15 | 42379110 | intron variant | G/A | snv | 0.16 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||||
|
1 | 3 | 9501958 | 3 prime UTR variant | C/G;T | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||||
|
1 | 7 | 22813902 | intron variant | C/T | snv | 0.13 | 0.700 | 1.000 | 1 | 2016 | 2016 |