| 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. | ||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
187 | 0.458 | 0.760 | 9 | 5073770 | missense variant | G/A;T | snv | 3.5E-04 | 0.040 | 1.000 | 4 | 2006 | 2017 | ||||
|
49 | 0.614 | 0.400 | 4 | 54733155 | missense variant | A/T | snv | 0.020 | 1.000 | 2 | 1995 | 2017 | |||||
|
52 | 0.605 | 0.400 | 4 | 54733167 | missense variant | A/G;T | snv | 0.020 | 1.000 | 2 | 1995 | 2017 | |||||
|
2 | 1.000 | 0.040 | 16 | 3714708 | intron variant | G/A;C | snv | 0.010 | 1.000 | 1 | 2018 | 2018 | |||||
|
15 | 0.776 | 0.240 | 2 | 25234373 | missense variant | C/A;G;T | snv | 4.0E-06; 4.0E-06; 2.2E-04 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
3 | 0.925 | 0.120 | 16 | 3697203 | intron variant | C/T | snv | 0.49 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
226 | 0.452 | 0.760 | 6 | 26090951 | missense variant | C/G;T | snv | 0.11 | 0.10 | 0.010 | 1.000 | 1 | 2002 | 2002 | |||
|
262 | 0.435 | 0.880 | 6 | 26092913 | missense variant | G/A | snv | 3.3E-02 | 3.8E-02 | 0.010 | 1.000 | 1 | 2002 | 2002 | |||
|
3 | 0.925 | 0.120 | 16 | 3688886 | intron variant | C/T | snv | 0.75 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
6 | 0.925 | 0.120 | 19 | 10286727 | non coding transcript exon variant | C/T | snv | 0.34 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
2 | 1.000 | 0.040 | 16 | 3664610 | 3 prime UTR variant | C/G;T | snv | 0.010 | 1.000 | 1 | 2018 | 2018 | |||||
|
8 | 0.827 | 0.240 | 19 | 4236999 | missense variant | G/A | snv | 0.34 | 0.39 | 0.010 | 1.000 | 1 | 2019 | 2019 | |||
|
7 | 0.925 | 0.120 | 22 | 21585386 | intron variant | G/T | snv | 0.31 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
2 | 1.000 | 0.080 | 8 | 55880680 | intron variant | A/G | snv | 0.18 | 0.010 | 1.000 | 1 | 2009 | 2009 | ||||
|
59 | 0.574 | 0.720 | 2 | 191099907 | intron variant | T/G | snv | 0.79 | 0.010 | 1.000 | 1 | 2009 | 2009 | ||||
|
2 | 1.000 | 0.120 | 1 | 155294506 | missense variant | A/G | snv | 4.0E-06 | 2.1E-05 | 0.010 | < 0.001 | 1 | 2018 | 2018 |