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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
78 | 0.583 | 0.480 | 12 | 40340400 | missense variant | G/A | snv | 5.3E-04 | 3.6E-04 | 0.900 | 0.996 | 260 | 2005 | 2020 | |||
|
59 | 0.614 | 0.360 | 4 | 89828149 | missense variant | C/T | snv | 0.100 | 0.980 | 153 | 1997 | 2020 | |||||
|
272 | 0.436 | 0.760 | 11 | 27658369 | missense variant | C/T | snv | 0.19 | 0.15 | 0.100 | 0.833 | 30 | 2002 | 2020 | |||
|
30 | 0.683 | 0.440 | 1 | 155235252 | missense variant | A/C;G | snv | 8.0E-06; 1.3E-03 | 0.100 | 0.962 | 26 | 2009 | 2020 | ||||
|
35 | 0.658 | 0.520 | 1 | 155235843 | missense variant | T/C;G | snv | 2.3E-03 | 0.100 | 0.955 | 22 | 2004 | 2020 | ||||
|
7 | 0.851 | 0.080 | 4 | 89718364 | intron variant | G/A;C;T | snv | 0.900 | 1.000 | 16 | 2009 | 2020 | |||||
|
3 | 0.882 | 0.080 | 18 | 43093415 | intron variant | A/G | snv | 0.33 | 0.890 | 0.909 | 11 | 2012 | 2020 | ||||
|
10 | 0.827 | 0.120 | 11 | 2169802 | missense variant | C/T | snv | 0.090 | 1.000 | 9 | 2013 | 2020 | |||||
|
9 | 0.827 | 0.080 | 4 | 89828154 | missense variant | C/T | snv | 0.070 | 1.000 | 7 | 2013 | 2020 | |||||
|
6 | 0.882 | 0.080 | 4 | 958159 | missense variant | T/C | snv | 0.18 | 0.14 | 0.730 | 1.000 | 6 | 2014 | 2020 | |||
|
3 | 0.925 | 0.080 | 1 | 205754444 | upstream gene variant | C/A;T | snv | 0.730 | 0.833 | 6 | 2014 | 2020 | |||||
|
4 | 0.851 | 0.080 | 6 | 162201165 | missense variant | C/T | snv | 7.1E-02 | 5.3E-02 | 0.050 | 1.000 | 5 | 1999 | 2020 | |||
|
3 | 0.925 | 0.120 | 6 | 161386823 | missense variant | C/G;T | snv | 0.16; 3.2E-05 | 0.030 | 0.667 | 3 | 2003 | 2020 | ||||
|
99 | 0.521 | 0.760 | 12 | 47879112 | start lost | A/C;G;T | snv | 0.63 | 0.030 | 0.667 | 3 | 2017 | 2020 | ||||
|
3 | 0.882 | 0.160 | 6 | 32420032 | intergenic variant | T/C | snv | 0.17 | 0.820 | 1.000 | 3 | 2012 | 2020 | ||||
|
6 | 0.882 | 0.160 | 1 | 155236246 | missense variant | G/A | snv | 5.9E-03 | 6.2E-03 | 0.030 | 1.000 | 3 | 2016 | 2020 | |||
|
2 | 1.000 | 0.040 | 1 | 7962815 | synonymous variant | G/T | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2020 | 2020 | ||||
|
7 | 0.827 | 0.080 | 12 | 106987362 | upstream gene variant | C/G;T | snv | 0.010 | 1.000 | 1 | 2020 | 2020 | |||||
|
2 | 0.925 | 0.080 | 4 | 950422 | splice acceptor variant | A/C | snv | 7.0E-02 | 6.8E-02 | 0.010 | 1.000 | 1 | 2020 | 2020 | |||
|
2 | 0.925 | 0.040 | X | 85963748 | missense variant | T/C | snv | 3.3E-05 | 2.8E-05 | 0.010 | 1.000 | 1 | 2020 | 2020 | |||
|
8 | 0.790 | 0.160 | 1 | 155240660 | frameshift variant | -/C | delins | 5.2E-05 | 5.6E-05 | 0.010 | 1.000 | 1 | 2020 | 2020 | |||
|
2 | 0.925 | 0.080 | 4 | 882749 | missense variant | A/G | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2020 | 2020 | ||||
|
3 | 0.925 | 0.080 | 1 | 155235002 | missense variant | C/T | snv | 0.010 | 1.000 | 1 | 2020 | 2020 | |||||
|
1 | 1.000 | 0.040 | 6 | 41161481 | missense variant | C/G;T | snv | 4.0E-06 | 0.010 | < 0.001 | 1 | 2020 | 2020 | ||||
|
21 | 0.732 | 0.160 | 4 | 89835580 | missense variant | C/G | snv | 0.100 | 0.957 | 70 | 1998 | 2019 |