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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
157 | 0.485 | 0.840 | 7 | 95308134 | missense variant | T/C | snv | 0.38 | 0.42 | 0.030 | 1.000 | 3 | 2004 | 2012 | |||
|
97 | 0.538 | 0.800 | 7 | 87531302 | missense variant | A/C;T | snv | 0.54; 3.8E-02 | 0.020 | 1.000 | 2 | 2004 | 2015 | ||||
|
3 | 0.882 | 0.040 | 1 | 20645618 | missense variant | G/A | snv | 9.2E-02 | 5.0E-02 | 0.020 | 1.000 | 2 | 2004 | 2006 | |||
|
10 | 0.752 | 0.200 | 1 | 155235002 | missense variant | C/T | snv | 1.8E-04 | 6.1E-05 | 0.020 | 1.000 | 2 | 2004 | 2018 | |||
|
1 | 1.000 | 0.040 | 1 | 20650507 | missense variant | A/C | snv | 0.29 | 0.28 | 0.010 | 1.000 | 1 | 2004 | 2004 | |||
|
6 | 0.851 | 0.200 | 7 | 87601024 | 5 prime UTR variant | A/G | snv | 0.010 | 1.000 | 1 | 2004 | 2004 | |||||
|
1 | 1.000 | 0.040 | 10 | 87952124 | missense variant | A/G | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2004 | 2004 | ||||
|
2 | 0.925 | 0.040 | 1 | 20637894 | missense variant | G/A | snv | 2.0E-05 | 3.5E-05 | 0.010 | 1.000 | 1 | 2004 | 2004 | |||
|
1 | 1.000 | 0.040 | 8 | 17000966 | intron variant | G/C | snv | 0.36 | 0.010 | 1.000 | 1 | 2004 | 2004 | ||||
|
2 | 1.000 | 0.040 | 3 | 19950975 | frameshift variant | -/GG | delins | 0.010 | 1.000 | 1 | 2004 | 2004 | |||||
|
1 | 1.000 | 0.040 | 2 | 130120359 | missense variant | C/T | snv | 3.2E-05 | 7.1E-06 | 0.010 | 1.000 | 1 | 2004 | 2004 | |||
|
1 | 1.000 | 0.040 | 8 | 24914799 | missense variant | G/A;C | snv | 3.4E-04; 1.8E-05 | 0.010 | < 0.001 | 1 | 2004 | 2004 | ||||
|
2 | 1.000 | 0.040 | 5 | 1416151 | synonymous variant | G/A | snv | 2.4E-05 | 0.010 | 1.000 | 1 | 2004 | 2004 | ||||
|
4 | 0.851 | 0.120 | 17 | 35878529 | missense variant | C/T | snv | 1.6E-05 | 7.0E-06 | 0.010 | 1.000 | 1 | 2004 | 2004 | |||
|
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 | |||
|
24 | 0.708 | 0.120 | 12 | 40310434 | missense variant | C/A;G;T | snv | 4.0E-06; 1.2E-05 | 0.100 | 1.000 | 46 | 2005 | 2019 | ||||
|
13 | 0.742 | 0.120 | 4 | 89828170 | missense variant | C/T | snv | 4.0E-06 | 0.100 | 1.000 | 28 | 2005 | 2019 | ||||
|
7 | 0.807 | 0.080 | 12 | 40310435 | missense variant | G/A | snv | 7.0E-06 | 0.070 | 1.000 | 7 | 2005 | 2017 | ||||
|
7 | 0.790 | 0.080 | 1 | 20644639 | missense variant | G/A | snv | 0.070 | 0.857 | 7 | 2005 | 2015 | |||||
|
9 | 0.790 | 0.280 | 3 | 119912967 | intron variant | A/G | snv | 0.54 | 0.050 | 0.800 | 5 | 2005 | 2013 | ||||
|
10 | 0.752 | 0.200 | 6 | 161785820 | missense variant | G/A;T | snv | 1.9E-03; 8.0E-06 | 0.020 | 1.000 | 2 | 2005 | 2018 | ||||
|
2 | 0.925 | 0.080 | 2 | 74530427 | missense variant | G/T | snv | 1.9E-02 | 1.7E-02 | 0.020 | 1.000 | 2 | 2005 | 2011 | |||
|
8 | 0.790 | 0.080 | 1 | 7970951 | missense variant | G/A;T | snv | 3.9E-04; 2.0E-05 | 0.020 | 1.000 | 2 | 2005 | 2013 | ||||
|
19 | 0.708 | 0.400 | 6 | 46705206 | missense variant | A/G | snv | 0.81 | 0.79 | 0.010 | 1.000 | 1 | 2005 | 2005 | |||
|
1 | 1.000 | 0.040 | 2 | 156329978 | missense variant | C/T | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2005 | 2005 |