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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
1 | 1.000 | 0.040 | 16 | 50710953 | missense variant | C/G | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.040 | 16 | 50711152 | missense variant | A/C;G | snv | 4.0E-06; 7.2E-05 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.040 | 16 | 50711203 | missense variant | C/T | snv | 9.7E-04 | 1.0E-03 | 0.700 | 0 | ||||||
|
1 | 1.000 | 0.040 | 16 | 50711232 | missense variant | G/A | snv | 3.1E-04 | 3.3E-04 | 0.700 | 0 | ||||||
|
2 | 0.925 | 0.120 | 16 | 50711745 | missense variant | G/A;T | snv | 6.4E-04; 5.6E-05 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.040 | 16 | 50711746 | missense variant | C/T | snv | 1.6E-05 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.040 | 16 | 50712048 | missense variant | C/T | snv | 1.2E-05 | 2.1E-05 | 0.700 | 0 | ||||||
|
1 | 1.000 | 0.040 | 16 | 50712184 | missense variant | C/T | snv | 1.2E-05 | 7.0E-06 | 0.700 | 0 | ||||||
|
1 | 1.000 | 0.040 | 16 | 50712243 | missense variant | G/A | snv | 2.4E-04 | 2.0E-04 | 0.700 | 0 | ||||||
|
1 | 1.000 | 0.040 | 16 | 50712288 | missense variant | G/A;T | snv | 1.1E-03 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.040 | 16 | 50716651 | missense variant | G/A | snv | 8.0E-05 | 7.7E-05 | 0.700 | 0 | ||||||
|
1 | 1.000 | 0.040 | 16 | 50716902 | missense variant | A/G | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.040 | 16 | 50716931 | missense variant | A/G;T | snv | 1.3E-03; 4.0E-06 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.040 | 16 | 50722678 | missense variant | G/A;T | snv | 6.8E-05; 4.0E-06 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.040 | 16 | 50699751 | missense variant | G/A;T | snv | 2.8E-05 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.040 | 16 | 50710981 | missense variant | A/C | snv | 2.4E-04 | 1.5E-04 | 0.700 | 0 | ||||||
|
1 | 1.000 | 0.040 | 16 | 50710998 | missense variant | A/T | snv | 4.8E-05 | 1.4E-05 | 0.700 | 0 | ||||||
|
1 | 1.000 | 0.040 | 16 | 50711559 | missense variant | C/G | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.040 | 16 | 50699832 | missense variant | G/A | snv | 1.7E-03 | 7.1E-03 | 0.700 | 0 | ||||||
|
5 | 0.851 | 0.120 | 16 | 50716899 | missense variant | A/G | snv | 1.2E-03 | 7.5E-04 | 0.720 | < 0.001 | 2 | 2014 | 2018 | |||
|
2 | 1.000 | 0.040 | 16 | 50707883 | missense variant | T/C | snv | 0.010 | < 0.001 | 1 | 2008 | 2008 | |||||
|
5 | 0.882 | 0.080 | 16 | 50712383 | 3 prime UTR variant | A/C | snv | 1.3E-02 | 1.4E-02 | 0.010 | < 0.001 | 1 | 2015 | 2015 | |||
|
5 | 0.851 | 0.240 | 16 | 50699557 | missense variant | G/C | snv | 0.010 | < 0.001 | 1 | 2018 | 2018 | |||||
|
9 | 0.790 | 0.200 | 16 | 50710807 | missense variant | G/A | snv | 1.2E-05 | 2.1E-05 | 0.100 | 0.917 | 12 | 2004 | 2017 | |||
|
18 | 0.716 | 0.400 | 16 | 50729868 | frameshift variant | C/-;CC | delins | 1.5E-02 | 0.890 | 0.923 | 13 | 2005 | 2019 |