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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
18 | 0.790 | 0.240 | 16 | 56961324 | upstream gene variant | C/A;G | snv | 0.51; 5.7E-06 | 0.010 | 1.000 | 1 | 2009 | 2009 | ||||
|
119 | 0.495 | 0.840 | 1 | 206773062 | 5 prime UTR variant | T/G | snv | 0.69 | 0.010 | 1.000 | 1 | 2009 | 2009 | ||||
|
8 | 1.000 | 0.040 | 5 | 177409531 | 5 prime UTR variant | A/G | snv | 0.65 | 0.67 | 0.010 | 1.000 | 1 | 2013 | 2013 | |||
|
174 | 0.472 | 0.880 | 1 | 11796321 | missense variant | G/A | snv | 0.31 | 0.27 | 0.010 | 1.000 | 1 | 2019 | 2019 | |||
|
135 | 0.496 | 0.800 | 1 | 236885200 | missense variant | A/G | snv | 0.20 | 0.21 | 0.010 | 1.000 | 1 | 2000 | 2000 | |||
|
2 | 1.000 | 0.080 | 5 | 177404082 | missense variant | C/G | snv | 3.1E-03 | 1.1E-03 | 0.010 | 1.000 | 1 | 2018 | 2018 | |||
|
11 | 0.807 | 0.440 | 13 | 46055809 | missense variant | A/G | snv | 0.74 | 0.77 | 0.010 | 1.000 | 1 | 2016 | 2016 | |||
|
1 | 20 | 23045859 | 3 prime UTR variant | C/T | snv | 0.75 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||||
|
1 | 20 | 23068910 | downstream gene variant | G/A | snv | 0.88 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||||
|
41 | 0.637 | 0.480 | 8 | 19956018 | missense variant | A/G | snv | 1.3E-02 | 1.3E-02 | 0.010 | 1.000 | 1 | 2006 | 2006 | |||
|
1 | 6 | 71011625 | regulatory region variant | T/C | snv | 0.36 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||||
|
26 | 0.658 | 0.600 | 11 | 102845217 | upstream gene variant | -/C;G | ins | 2.8E-04 | 0.010 | 1.000 | 1 | 2009 | 2009 | ||||
|
3 | 1.000 | 0.040 | 20 | 23046776 | 3 prime UTR variant | T/G | snv | 0.15 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
1 | 10 | 95821187 | intron variant | A/G | snv | 0.50 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||||
|
9 | 0.790 | 0.240 | 9 | 5072541 | missense variant | G/A;T | snv | 2.8E-05; 6.4E-05 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
17 | 0.742 | 0.400 | 13 | 46073959 | missense variant | C/T | snv | 0.31 | 0.35 | 0.010 | 1.000 | 1 | 2016 | 2016 | |||
|
4 | 0.882 | 0.120 | 4 | 102609955 | intron variant | A/G | snv | 0.64 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
16 | 0.732 | 0.160 | 6 | 160540105 | missense variant | T/C | snv | 5.6E-02 | 3.1E-02 | 0.010 | 1.000 | 1 | 2016 | 2016 | |||
|
11 | 0.790 | 0.240 | 17 | 47311220 | 3 prime UTR variant | T/A;G | snv | 0.010 | 1.000 | 1 | 2015 | 2015 | |||||
|
1 | 10 | 95755380 | non coding transcript exon variant | G/A | snv | 0.50 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||||
|
17 | 0.716 | 0.400 | 1 | 173206693 | intron variant | A/G | snv | 0.14 | 0.010 | 1.000 | 1 | 2008 | 2008 | ||||
|
4 | 1.000 | 0.080 | 17 | 47292411 | synonymous variant | A/G | snv | 0.29 | 0.29 | 0.010 | < 0.001 | 1 | 2015 | 2015 | |||
|
33 | 0.653 | 0.560 | 1 | 203186754 | upstream gene variant | G/A;C;T | snv | 0.010 | 1.000 | 1 | 2016 | 2016 | |||||
|
47 | 0.623 | 0.720 | 1 | 169731919 | missense variant | T/G | snv | 8.3E-02; 8.0E-06 | 7.8E-02 | 0.010 | 1.000 | 1 | 2006 | 2006 | |||
|
20 | 0.695 | 0.440 | 16 | 27342243 | missense variant | G/A;T | snv | 3.6E-05; 2.9E-04 | 0.010 | 1.000 | 1 | 2006 | 2006 |