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 | 0.040 | 2 | 211378020 | 3 prime UTR variant | G/A;C | snv | 0.010 | 1.000 | 1 | 2016 | 2016 | |||||
|
2 | 0.925 | 0.040 | 2 | 211377916 | 3 prime UTR variant | G/A | snv | 0.73 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
188 | 0.457 | 0.880 | 11 | 67585218 | missense variant | A/G | snv | 0.34 | 0.36 | 0.010 | 1.000 | 1 | 2019 | 2019 | |||
|
4 | 0.882 | 0.040 | 1 | 16016759 | intron variant | T/C | snv | 0.62 | 0.010 | 1.000 | 1 | 2010 | 2010 | ||||
|
25 | 0.677 | 0.480 | 17 | 63488529 | intron variant | -/TTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCATACAGTCACTTTT | delins | 0.010 | 1.000 | 1 | 2014 | 2014 | |||||
|
35 | 0.641 | 0.640 | 22 | 46218377 | missense variant | C/G | snv | 4.3E-02 | 4.2E-02 | 0.010 | 1.000 | 1 | 2011 | 2011 | |||
|
13 | 0.827 | 0.160 | 19 | 45678134 | missense variant | G/C | snv | 0.18 | 0.17 | 0.010 | 1.000 | 1 | 2019 | 2019 | |||
|
33 | 0.658 | 0.480 | 6 | 32184610 | upstream gene variant | A/G;T | snv | 0.010 | 1.000 | 1 | 2012 | 2012 | |||||
|
39 | 0.641 | 0.680 | 6 | 32184665 | upstream gene variant | A/G | snv | 0.15 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
32 | 0.649 | 0.480 | 6 | 26090957 | missense variant | A/T | snv | 1.0E-02 | 1.0E-02 | 0.010 | 1.000 | 1 | 2010 | 2010 | |||
|
9 | 0.763 | 0.320 | 7 | 150992855 | intron variant | G/A;C | snv | 0.010 | 1.000 | 1 | 2012 | 2012 | |||||
|
131 | 0.500 | 0.840 | 3 | 12351626 | missense variant | C/G | snv | 0.11 | 8.9E-02 | 0.010 | < 0.001 | 1 | 2019 | 2019 | |||
|
2 | 0.925 | 0.040 | 3 | 38550915 | synonymous variant | A/G | snv | 0.39 | 0.44 | 0.010 | 1.000 | 1 | 2018 | 2018 | |||
|
17 | 0.732 | 0.240 | 21 | 34449523 | missense variant | T/C | snv | 0.64 | 2.0E-04 | 0.010 | 1.000 | 1 | 2010 | 2010 | |||
|
121 | 0.510 | 0.840 | 3 | 12379739 | missense variant | C/G | snv | 0.010 | < 0.001 | 1 | 2019 | 2019 | |||||
|
5 | 0.851 | 0.080 | 12 | 110345436 | intron variant | G/A | snv | 0.19 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
4 | 0.925 | 0.040 | 1 | 11844019 | 3 prime UTR variant | T/C | snv | 0.32 | 0.010 | < 0.001 | 1 | 2013 | 2013 | ||||
|
3 | 0.925 | 0.040 | 19 | 35756980 | missense variant | G/A;T | snv | 7.0E-04 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
54 | 0.608 | 0.680 | 7 | 150992991 | intron variant | C/T | snv | 0.70 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
5 | 0.882 | 0.080 | 5 | 158393594 | intron variant | C/T | snv | 0.37 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
6 | 0.807 | 0.160 | 10 | 119326585 | missense variant | A/T | snv | 3.8E-02 | 9.0E-02 | 0.010 | 1.000 | 1 | 2019 | 2019 | |||
|
2 | 0.925 | 0.040 | 5 | 175684809 | intron variant | G/C;T | snv | 1.0E-03 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
105 | 0.514 | 0.760 | 6 | 52186235 | upstream gene variant | G/A | snv | 0.28 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
18 | 0.701 | 0.440 | 11 | 102875061 | upstream gene variant | T/C | snv | 9.2E-02 | 0.010 | < 0.001 | 1 | 2011 | 2011 | ||||
|
17 | 0.742 | 0.320 | 9 | 22115027 | intron variant | A/G | snv | 0.49 | 0.010 | 1.000 | 1 | 2009 | 2009 |