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 | 0.882 | 0.080 | 1 | 100252204 | non coding transcript exon variant | C/G | snv | 0.80 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
9 | 0.827 | 0.240 | 14 | 100853087 | non coding transcript exon variant | A/G | snv | 0.42 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
7 | 0.790 | 0.160 | 14 | 100855451 | non coding transcript exon variant | G/A | snv | 0.29 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
3 | 0.882 | 0.080 | 7 | 100860016 | missense variant | A/G | snv | 4.0E-06 | 7.0E-06 | 0.010 | 1.000 | 1 | 1999 | 1999 | |||
|
32 | 0.641 | 0.520 | 10 | 100975021 | mature miRNA variant | C/G | snv | 0.27 | 0.27 | 0.050 | 0.800 | 5 | 2015 | 2019 | |||
|
6 | 0.807 | 0.080 | 14 | 101041390 | non coding transcript exon variant | C/T | snv | 0.51 | 0.50 | 0.010 | 1.000 | 1 | 2018 | 2018 | |||
|
31 | 0.649 | 0.600 | 7 | 101126430 | upstream gene variant | A/G | snv | 0.010 | 1.000 | 1 | 2014 | 2014 | |||||
|
6 | 0.807 | 0.200 | 7 | 101128436 | missense variant | G/A | snv | 9.5E-02 | 8.0E-02 | 0.010 | 1.000 | 1 | 2009 | 2009 | |||
|
6 | 0.807 | 0.240 | 2 | 102024739 | 3 prime UTR variant | A/G | snv | 0.14 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
13 | 0.732 | 0.200 | 2 | 102026557 | intron variant | A/G | snv | 0.24 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
49 | 0.608 | 0.720 | 14 | 102250837 | missense variant | C/T | snv | 4.0E-06 | 7.0E-06 | 0.010 | 1.000 | 1 | 2015 | 2015 | |||
|
56 | 0.592 | 0.720 | 4 | 102500998 | non coding transcript exon variant | ATTG/- | delins | 0.010 | 1.000 | 1 | 2016 | 2016 | |||||
|
4 | 0.851 | 0.080 | 4 | 102506319 | intron variant | A/C;G;T | snv | 0.010 | 1.000 | 1 | 2015 | 2015 | |||||
|
3 | 0.882 | 0.080 | 4 | 102557546 | intron variant | C/T | snv | 0.18 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
3 | 0.882 | 0.080 | 4 | 102576628 | intron variant | G/A | snv | 0.58 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
3 | 0.882 | 0.080 | 4 | 102579897 | intron variant | C/G;T | snv | 0.010 | 1.000 | 1 | 2015 | 2015 | |||||
|
3 | 0.882 | 0.080 | 4 | 102614748 | intron variant | C/T | snv | 4.3E-02 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
17 | 0.716 | 0.360 | 11 | 102713373 | missense variant | T/G | snv | 6.0E-02 | 9.8E-02 | 0.010 | < 0.001 | 1 | 2017 | 2017 | |||
|
17 | 0.716 | 0.360 | 11 | 102713445 | missense variant | A/G | snv | 2.5E-03 | 6.2E-04 | 0.010 | < 0.001 | 1 | 2017 | 2017 | |||
|
5 | 0.851 | 0.160 | 11 | 102798678 | intron variant | T/C | snv | 0.30 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
48 | 0.592 | 0.760 | 11 | 102799765 | intron variant | C/- | delins | 0.50 | 0.010 | 1.000 | 1 | 2006 | 2006 | ||||
|
4 | 0.851 | 0.080 | 11 | 102843046 | intron variant | G/A;C | snv | 0.010 | 1.000 | 1 | 2014 | 2014 | |||||
|
26 | 0.658 | 0.600 | 11 | 102845217 | upstream gene variant | -/C;G | ins | 2.8E-04 | 0.020 | 1.000 | 2 | 2006 | 2014 | ||||
|
15 | 0.724 | 0.360 | 13 | 102845848 | 5 prime UTR variant | A/G | snv | 0.76 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
20 | 0.695 | 0.320 | 13 | 102852167 | synonymous variant | T/C | snv | 0.52 | 0.59 | 0.010 | 1.000 | 1 | 2017 | 2017 |