| 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. | ||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
46 | 0.611 | 0.600 | 16 | 50722629 | missense variant | G/C;T | snv | 1.1E-02; 2.2E-04 | 0.020 | 1.000 | 2 | 2012 | 2016 | ||||
|
8 | 0.807 | 0.320 | 21 | 31667849 | intron variant | C/T | snv | 0.24 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
54 | 0.587 | 0.520 | 16 | 50712015 | missense variant | C/T | snv | 2.6E-02 | 2.9E-02 | 0.010 | 1.000 | 1 | 2012 | 2012 | |||
|
4 | 0.851 | 0.160 | 17 | 48852546 | missense variant | T/C | snv | 7.4E-02 | 0.12 | 0.010 | 1.000 | 1 | 2016 | 2016 | |||
|
1 | 1.000 | 0.080 | 11 | 36502062 | intron variant | C/T | snv | 0.15 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
3 | 0.882 | 0.120 | 4 | 189571800 | intergenic variant | T/C | snv | 0.010 | < 0.001 | 1 | 2017 | 2017 | |||||
|
1 | 1.000 | 0.080 | 11 | 36509193 | intron variant | G/A;C | snv | 0.010 | 1.000 | 1 | 2017 | 2017 | |||||
|
2 | 1.000 | 0.080 | 12 | 100493323 | 5 prime UTR variant | G/T | snv | 4.7E-02 | 2.8E-02 | 0.010 | 1.000 | 1 | 2014 | 2014 | |||
|
9 | 0.763 | 0.240 | 4 | 153704799 | missense variant | C/A | snv | 2.8E-02 | 2.8E-02 | 0.010 | 1.000 | 1 | 2011 | 2011 | |||
|
98 | 0.525 | 0.800 | 4 | 153705165 | missense variant | G/A | snv | 1.7E-02 | 1.8E-02 | 0.010 | 1.000 | 1 | 2011 | 2011 | |||
|
1 | 1.000 | 0.080 | 16 | 50712169 | missense variant | G/A | snv | 8.8E-05 | 7.0E-06 | 0.010 | 1.000 | 1 | 2011 | 2011 |