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 | 10 | 17849701 | missense variant | G/A | snv | 0.32 | 0.710 | 1.000 | 1 | 2010 | 2010 | ||||
|
2 | 0.925 | 0.040 | 10 | 58395360 | 3 prime UTR variant | G/C;T | snv | 0.010 | 1.000 | 1 | 2017 | 2017 | |||||
|
1 | 1.000 | 0.040 | 10 | 16889345 | intron variant | C/T | snv | 7.4E-02 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
1 | 1.000 | 0.040 | 10 | 20986398 | intron variant | G/A | snv | 0.13 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
2 | 0.925 | 0.040 | 3 | 183857982 | intron variant | G/A | snv | 0.12 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
3 | 0.925 | 0.120 | 17 | 66212167 | missense variant | C/G | snv | 4.8E-02 | 4.0E-02 | 0.010 | 1.000 | 1 | 2010 | 2010 | |||
|
1 | 1.000 | 0.040 | 1 | 67106212 | intron variant | A/G;T | snv | 0.010 | < 0.001 | 1 | 2016 | 2016 | |||||
|
2 | 0.925 | 0.040 | 6 | 146597814 | intron variant | G/A | snv | 7.7E-02 | 0.010 | < 0.001 | 1 | 2016 | 2016 | ||||
|
4 | 0.851 | 0.080 | 12 | 68158711 | intron variant | CGAG/- | delins | 0.010 | 1.000 | 1 | 2012 | 2012 | |||||
|
1 | 1.000 | 0.040 | 15 | 89317196 | 3 prime UTR variant | C/A;T | snv | 0.010 | 1.000 | 1 | 2017 | 2017 | |||||
|
2 | 0.925 | 0.040 | 1 | 67131436 | intron variant | G/A | snv | 0.83 | 0.010 | < 0.001 | 1 | 2016 | 2016 | ||||
|
22 | 0.667 | 0.480 | 19 | 44905579 | upstream gene variant | T/G | snv | 0.58 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
4 | 0.851 | 0.200 | 19 | 44911194 | non coding transcript exon variant | T/C | snv | 0.68 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
5 | 0.851 | 0.160 | 17 | 66214639 | missense variant | C/A;G | snv | 0.38; 4.0E-06; 4.0E-06 | 0.36 | 0.010 | 1.000 | 1 | 2010 | 2010 | |||
|
3 | 0.882 | 0.120 | 10 | 17841064 | intron variant | G/A;T | snv | 0.010 | 1.000 | 1 | 2012 | 2012 | |||||
|
2 | 0.925 | 0.040 | 3 | 183886132 | intron variant | T/G | snv | 0.12 | 0.010 | 1.000 | 1 | 2016 | 2016 |