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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
2 | 1.000 | 0.040 | 1 | 2579316 | upstream gene variant | G/A;C | snv | 0.700 | 1.000 | 1 | 2017 | 2017 | |||||
|
3 | 0.925 | 0.080 | 1 | 172731728 | intergenic variant | G/A | snv | 0.93 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||
|
1 | 1 | 151824266 | intron variant | C/G | snv | 7.6E-02 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||||
|
3 | 0.925 | 0.120 | 1 | 152027641 | intron variant | G/A | snv | 2.5E-02 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||
|
1 | 1 | 10583772 | intron variant | C/G;T | snv | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||||
|
4 | 0.925 | 0.080 | 1 | 152206676 | intron variant | C/T | snv | 2.9E-02 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||
|
3 | 0.925 | 0.120 | 1 | 167457187 | non coding transcript exon variant | G/A;C;T | snv | 0.700 | 1.000 | 1 | 2018 | 2018 | |||||
|
2 | 1.000 | 0.080 | 1 | 92571555 | intron variant | C/A | snv | 0.20 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||
|
1 | 1 | 10519488 | intron variant | G/T | snv | 0.25 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||||
|
1 | 1 | 10521601 | intron variant | G/A | snv | 0.25 | 0.800 | 1.000 | 1 | 2013 | 2013 | ||||||
|
4 | 0.882 | 0.120 | 1 | 161215268 | non coding transcript exon variant | G/T | snv | 0.32 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||
|
2 | 1.000 | 0.120 | 1 | 161217875 | intron variant | C/T | snv | 0.31 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||
|
57 | 0.602 | 0.720 | 1 | 154454494 | missense variant | A/C;T | snv | 0.38; 1.2E-05 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||
|
1 | 1 | 10520834 | intron variant | C/T | snv | 0.24 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||||
|
1 | 1 | 10504618 | intron variant | G/A | snv | 0.69 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||||
|
1 | 1 | 167462115 | intron variant | C/T | snv | 0.27 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||||
|
3 | 1.000 | 0.080 | 1 | 8420956 | intron variant | T/G | snv | 0.65 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||
|
6 | 0.851 | 0.120 | 1 | 8422018 | intron variant | C/T | snv | 0.62 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||
|
1 | 1 | 173177782 | upstream gene variant | C/A | snv | 0.29 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||||
|
1 | 1 | 8641229 | intron variant | C/T | snv | 0.27 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||||
|
2 | 1 | 10506215 | intron variant | C/T | snv | 0.29 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||||
|
2 | 1.000 | 0.080 | 1 | 152921415 | intergenic variant | C/G | snv | 1.1E-02 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||
|
43 | 0.658 | 0.640 | 1 | 152313385 | stop gained | G/A;T | snv | 9.4E-03; 8.0E-06 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||
|
2 | 1.000 | 0.080 | 1 | 152347096 | intron variant | T/C | snv | 1.6E-02 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||
|
1 | 1 | 10484490 | intron variant | G/A | snv | 0.75 | 0.700 | 1.000 | 1 | 2013 | 2013 |