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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
15 | 0.732 | 0.280 | 9 | 22083405 | intron variant | C/G;T | snv | 0.840 | 1.000 | 6 | 2008 | 2015 | |||||
|
1 | 1.000 | 0.080 | 8 | 54524964 | intron variant | A/G | snv | 0.19 | 0.830 | 1.000 | 5 | 2008 | 2019 | ||||
|
2 | 1.000 | 0.080 | 8 | 54414531 | intergenic variant | G/A | snv | 0.18 | 0.820 | 1.000 | 4 | 2008 | 2018 | ||||
|
2 | 1.000 | 0.080 | 2 | 197766990 | intron variant | G/A | snv | 0.73 | 0.820 | 1.000 | 3 | 2008 | 2019 | ||||
|
6 | 0.851 | 0.160 | 9 | 22088261 | intron variant | C/T | snv | 0.41 | 0.820 | 1.000 | 2 | 2012 | 2019 | ||||
|
5 | 0.882 | 0.080 | 9 | 22081851 | intron variant | C/T | snv | 0.62 | 0.810 | 1.000 | 1 | 2012 | 2012 | ||||
|
3 | 0.925 | 0.080 | 4 | 147479667 | upstream gene variant | C/A | snv | 0.22 | 0.810 | 1.000 | 1 | 2012 | 2012 | ||||
|
1 | 1.000 | 0.080 | 18 | 22643732 | upstream gene variant | C/A | snv | 0.38 | 0.800 | 1.000 | 1 | 2010 | 2010 | ||||
|
9 | 0.790 | 0.200 | 10 | 102959339 | intron variant | G/A | snv | 9.0E-02 | 0.800 | 1.000 | 1 | 2010 | 2010 | ||||
|
1 | 1.000 | 0.080 | 8 | 54398151 | downstream gene variant | A/C | snv | 0.30 | 0.800 | 1.000 | 1 | 2010 | 2010 | ||||
|
1 | 1.000 | 0.080 | 13 | 33119700 | intron variant | C/T | snv | 0.20 | 0.800 | 1.000 | 1 | 2010 | 2010 | ||||
|
1 | 1.000 | 0.080 | 7 | 19571684 | intron variant | G/C;T | snv | 0.720 | 1.000 | 3 | 2014 | 2019 | |||||
|
3 | 1.000 | 0.080 | 9 | 22114470 | intron variant | G/C | snv | 0.64 | 0.710 | 1.000 | 1 | 2014 | 2014 | ||||
|
1 | 1.000 | 0.080 | 11 | 128969377 | stop gained | G/A | snv | 2.8E-05 | 0.710 | 1.000 | 1 | 2019 | 2019 | ||||
|
1 | 1.000 | 0.080 | 3 | 13148884 | intron variant | C/T | snv | 0.58 | 0.710 | 1.000 | 1 | 2010 | 2010 | ||||
|
1 | 1.000 | 0.080 | 9 | 97513142 | non coding transcript exon variant | C/T | snv | 0.53 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
1 | 1.000 | 0.080 | 21 | 36778953 | intron variant | A/C;T | snv | 1.8E-02 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||
|
1 | 1.000 | 0.080 | 8 | 66948134 | missense variant | C/A;G;T | snv | 7.6E-06; 1.7E-02 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
1 | 1.000 | 0.080 | 13 | 53839718 | intron variant | T/C | snv | 3.4E-02 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||
|
1 | 1.000 | 0.080 | 4 | 16011163 | intron variant | C/T | snv | 1.6E-02 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||
|
1 | 1.000 | 0.080 | 16 | 14369502 | intron variant | C/T | snv | 0.20 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
1 | 1.000 | 0.080 | 18 | 22599418 | intergenic variant | G/A;T | snv | 0.38 | 0.700 | 1.000 | 1 | 2010 | 2010 | ||||
|
1 | 1.000 | 0.080 | 21 | 44456833 | synonymous variant | G/A | snv | 1.5E-02 | 6.3E-03 | 0.700 | 1.000 | 1 | 2019 | 2019 | |||
|
1 | 1.000 | 0.080 | 22 | 32213191 | intron variant | T/C | snv | 1.7E-03 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
1 | 1.000 | 0.080 | 8 | 10886429 | intergenic variant | G/A | snv | 3.8E-02 | 0.700 | 1.000 | 1 | 2018 | 2018 |