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 | 0.925 | 0.120 | 19 | 1005231 | missense variant | C/T | snv | 0.36 | 0.41 | 0.010 | 1.000 | 1 | 2016 | 2016 | |||
|
1 | 1.000 | 0.080 | 9 | 101605720 | intron variant | T/A | snv | 0.41 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
2 | 1.000 | 0.080 | 16 | 10174473 | intron variant | T/C | snv | 0.58 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
1 | 1.000 | 0.080 | 16 | 10183568 | upstream gene variant | CACACACACACACACACA/-;CA;CACA;CACACA;CACACACA;CACACACACA;CACACACACACA;CACACACACACACA;CACACACACACACACA;CACACACACACACACACACA;CACACACACACACACACACACA;CACACACACACACACACACACACA;CACACACACACACACACACACACACA;CACACACACACACACACACACACACACA;CACACACACACACACACACACACACACACA;CACACACACACACACACACACACACACACACA;CACACACACACACACACACACACACACACACACA;CACACACACACACACACACACACACACACACACACA;CACACACACACACACACACACACACACACACACACACA;CACACACACACACACACACACACACACACACACACACACA;CACACACACACACACACACACACACACACACACACACACACA | delins | 0.010 | 1.000 | 1 | 2013 | 2013 | |||||
|
1 | 1.000 | 0.080 | 12 | 111792761 | missense variant | C/G;T | snv | 6.3E-06 | 0.010 | 1.000 | 1 | 2002 | 2002 | ||||
|
1 | 1.000 | 0.080 | 11 | 113112812 | intron variant | C/T | snv | 0.57 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
8 | 0.807 | 0.120 | 11 | 113393764 | missense variant | A/G | snv | 0.010 | 1.000 | 1 | 2015 | 2015 | |||||
|
56 | 0.620 | 0.400 | 11 | 113400106 | missense variant | G/A | snv | 0.26 | 0.26 | 0.040 | 1.000 | 4 | 2009 | 2019 | |||
|
11 | 0.776 | 0.120 | 11 | 113412966 | intron variant | C/A | snv | 0.16 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
12 | 0.776 | 0.160 | 11 | 113414814 | intron variant | C/A | snv | 0.16 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
5 | 0.827 | 0.080 | 11 | 113425564 | intron variant | C/T | snv | 0.18 | 0.020 | 1.000 | 2 | 2013 | 2019 | ||||
|
1 | 1.000 | 0.080 | 11 | 113443641 | intron variant | G/A;T | snv | 0.010 | 1.000 | 1 | 2019 | 2019 | |||||
|
3 | 0.925 | 0.080 | 11 | 113476233 | upstream gene variant | A/G | snv | 5.8E-02 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
1 | 1.000 | 0.080 | 11 | 113910259 | intron variant | T/C | snv | 6.1E-02 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
19 | 0.708 | 0.240 | 11 | 113932306 | missense variant | A/C | snv | 0.33 | 0.36 | 0.010 | 1.000 | 1 | 2011 | 2011 | |||
|
57 | 0.602 | 0.520 | 3 | 114171968 | missense variant | C/T | snv | 0.63 | 0.54 | 0.010 | 1.000 | 1 | 2014 | 2014 | |||
|
2 | 1.000 | 0.080 | 3 | 114181373 | intron variant | A/G | snv | 0.36 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
1 | 1.000 | 0.080 | 10 | 117243156 | intron variant | G/A | snv | 0.18 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
1 | 1.000 | 0.080 | 10 | 117245484 | intron variant | C/G | snv | 0.25 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
1 | 1.000 | 0.080 | 10 | 117249878 | intron variant | C/T | snv | 0.58 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
1 | 1.000 | 0.080 | 4 | 125146073 | intergenic variant | A/T | snv | 8.9E-02 | 0.010 | 1.000 | 1 | 2008 | 2008 | ||||
|
1 | 1.000 | 0.080 | 17 | 12714384 | intron variant | A/G;T | snv | 0.010 | 1.000 | 1 | 2008 | 2008 | |||||
|
2 | 0.925 | 0.080 | 9 | 13235288 | intron variant | A/G;T | snv | 0.010 | 1.000 | 1 | 2015 | 2015 | |||||
|
1 | 1.000 | 0.080 | 2 | 133762000 | intergenic variant | G/A | snv | 0.22 | 0.010 | 1.000 | 1 | 2008 | 2008 | ||||
|
1 | 1.000 | 0.080 | 6 | 153992036 | intergenic variant | T/C | snv | 0.36 | 0.010 | 1.000 | 1 | 2015 | 2015 |