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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
6 | 4 | 54528005 | intergenic variant | C/T | snv | 0.18 | 0.800 | 1.000 | 5 | 2009 | 2019 | ||||||
|
11 | 0.851 | 0.160 | 22 | 50532837 | upstream gene variant | T/A;C | snv | 0.800 | 1.000 | 4 | 2009 | 2019 | |||||
|
3 | 4 | 54528857 | intergenic variant | A/T | snv | 0.38 | 0.800 | 1.000 | 4 | 2009 | 2018 | ||||||
|
14 | 1.000 | 0.080 | 6 | 135097497 | intron variant | C/T | snv | 6.9E-02 | 0.800 | 1.000 | 4 | 2009 | 2012 | ||||
|
4 | 2 | 46133768 | intron variant | G/C | snv | 0.36 | 0.700 | 1.000 | 3 | 2016 | 2019 | ||||||
|
9 | 1.000 | 0.040 | 7 | 151716108 | intron variant | T/C | snv | 0.21 | 0.800 | 1.000 | 3 | 2009 | 2019 | ||||
|
15 | 0.790 | 0.200 | X | 154536002 | missense variant | C/T | snv | 9.1E-03 | 3.6E-02 | 0.700 | 1.000 | 3 | 2013 | 2017 | |||
|
6 | 1 | 199041592 | non coding transcript exon variant | C/T | snv | 0.76 | 0.700 | 1.000 | 3 | 2016 | 2019 | ||||||
|
5 | 6 | 135069698 | intron variant | G/A | snv | 0.22 | 0.800 | 1.000 | 3 | 2009 | 2019 | ||||||
|
8 | 7 | 100642673 | intron variant | A/G | snv | 0.65 | 0.700 | 1.000 | 3 | 2012 | 2017 | ||||||
|
92 | 0.572 | 0.600 | 12 | 111446804 | missense variant | T/A;C;G | snv | 0.67 | 0.800 | 1.000 | 3 | 2009 | 2019 | ||||
|
5 | 16 | 30091839 | 5 prime UTR variant | C/A | snv | 0.41 | 0.700 | 1.000 | 3 | 2016 | 2019 | ||||||
|
12 | 1 | 247876149 | missense variant | C/T | snv | 0.31 | 0.26 | 0.700 | 1.000 | 3 | 2012 | 2019 | |||||
|
4 | 6 | 135131014 | intergenic variant | G/A;C;T | snv | 0.800 | 1.000 | 3 | 2009 | 2012 | |||||||
|
4 | 7 | 50360284 | intron variant | G/A | snv | 0.47 | 0.700 | 1.000 | 3 | 2016 | 2019 | ||||||
|
14 | 0.851 | 0.120 | 7 | 100638347 | intron variant | C/A | snv | 0.65 | 0.700 | 1.000 | 3 | 2009 | 2019 | ||||
|
7 | 6 | 41957421 | intron variant | G/A;C | snv | 0.700 | 1.000 | 3 | 2016 | 2019 | |||||||
|
2 | 13 | 75483247 | upstream gene variant | G/A | snv | 6.8E-02 | 0.700 | 1.000 | 3 | 2016 | 2019 | ||||||
|
7 | 9 | 4852599 | intron variant | A/G | snv | 0.19 | 0.800 | 1.000 | 2 | 2009 | 2019 | ||||||
|
4 | 9 | 4856877 | intron variant | G/A | snv | 0.15 | 0.700 | 1.000 | 2 | 2017 | 2018 | ||||||
|
4 | 6 | 41953503 | intron variant | G/T | snv | 0.13 | 0.800 | 1.000 | 2 | 2009 | 2016 | ||||||
|
5 | 15 | 76006403 | intron variant | A/G | snv | 0.43 | 0.700 | 1.000 | 2 | 2016 | 2019 | ||||||
|
3 | 6 | 2050557 | intron variant | A/C;G | snv | 0.700 | 1.000 | 2 | 2016 | 2019 | |||||||
|
2 | 14 | 65043160 | intron variant | C/T | snv | 0.57 | 0.800 | 1.000 | 2 | 2009 | 2019 | ||||||
|
5 | 1 | 3774964 | intron variant | A/G | snv | 0.31 | 0.700 | 1.000 | 2 | 2016 | 2019 |