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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
7 | 0.882 | 0.080 | 4 | 99307860 | missense variant | G/A | snv | 1.5E-02 | 5.9E-02 | 0.700 | 1.000 | 2 | 2014 | 2019 | |||
|
3 | 1.000 | 0.080 | 4 | 99332551 | intron variant | A/G;T | snv | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||
|
3 | 1.000 | 0.080 | 4 | 99315605 | non coding transcript exon variant | C/T | snv | 0.81 | 0.700 | 1.000 | 1 | 2014 | 2014 | ||||
|
4 | 1.000 | 0.080 | 4 | 99313896 | synonymous variant | A/G;T | snv | 0.82 | 0.700 | 1.000 | 1 | 2014 | 2014 | ||||
|
3 | 1.000 | 0.080 | 4 | 99317841 | non coding transcript exon variant | T/C | snv | 0.24 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
3 | 1.000 | 0.080 | 4 | 99329813 | intron variant | C/A | snv | 0.30 | 0.700 | 1.000 | 1 | 2014 | 2014 | ||||
|
3 | 1.000 | 0.080 | 4 | 99346215 | intron variant | C/T | snv | 0.31 | 0.700 | 1.000 | 1 | 2014 | 2014 | ||||
|
3 | 1.000 | 0.080 | 4 | 99336850 | intron variant | T/C | snv | 0.31 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
4 | 0.925 | 0.160 | 4 | 99336998 | intron variant | C/T | snv | 0.38 | 0.700 | 1.000 | 1 | 2014 | 2014 | ||||
|
3 | 1.000 | 0.080 | 4 | 99344976 | synonymous variant | T/A;C | snv | 4.0E-06; 0.30 | 0.700 | 1.000 | 1 | 2014 | 2014 | ||||
|
5 | 0.925 | 0.160 | 4 | 99353129 | upstream gene variant | C/G;T | snv | 0.700 | 1.000 | 1 | 2017 | 2017 | |||||
|
4 | 1.000 | 0.080 | 4 | 99150767 | intron variant | A/C;G | snv | 0.700 | 1.000 | 1 | 2014 | 2014 | |||||
|
3 | 1.000 | 0.080 | 4 | 99126006 | intron variant | -/A | delins | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||
|
5 | 0.925 | 0.080 | 1 | 49441901 | intron variant | G/A | snv | 7.3E-04 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
116 | 0.529 | 0.840 | 12 | 111803962 | missense variant | G/A | snv | 1.9E-02 | 5.8E-03 | 0.700 | 1.000 | 1 | 2014 | 2014 | |||
|
5 | 0.925 | 0.080 | 12 | 99455122 | intron variant | G/T | snv | 7.6E-02 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
3 | 1.000 | 0.080 | 2 | 200703710 | intron variant | C/T | snv | 0.79 | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||
|
3 | 1.000 | 0.080 | 5 | 54296531 | intron variant | G/T | snv | 0.73 | 0.700 | 1.000 | 1 | 2014 | 2014 | ||||
|
15 | 0.763 | 0.360 | 12 | 111681367 | intron variant | T/C | snv | 5.8E-03 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
3 | 1.000 | 0.080 | 15 | 92501109 | non coding transcript exon variant | T/C;G | snv | 0.700 | 1.000 | 1 | 2011 | 2011 | |||||
|
4 | 1.000 | 0.080 | 16 | 9120023 | 3 prime UTR variant | A/C | snv | 0.55 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||
|
3 | 1.000 | 0.080 | 4 | 90215590 | intron variant | G/A | snv | 4.4E-02 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||
|
3 | 1.000 | 0.080 | 2 | 165633833 | intron variant | A/G | snv | 0.34 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||
|
5 | 0.925 | 0.080 | 2 | 79751234 | intron variant | C/G;T | snv | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||
|
4 | 0.925 | 0.080 | 1 | 216600151 | intron variant | T/C | snv | 0.15 | 0.700 | 1.000 | 1 | 2017 | 2017 |