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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
23 | 0.677 | 0.280 | 17 | 7674217 | missense variant | C/A;G;T | snv | 0.020 | 1.000 | 2 | 2000 | 2004 | |||||
|
242 | 0.426 | 0.800 | 17 | 7676154 | missense variant | G/C;T | snv | 0.67 | 0.100 | 0.923 | 13 | 2002 | 2018 | ||||
|
214 | 0.439 | 0.800 | 17 | 7676154 | frameshift variant | -/C | ins | 0.100 | 0.900 | 10 | 2002 | 2016 | |||||
|
213 | 0.439 | 0.800 | 17 | 7676153 | missense variant | GG/AC | mnv | 0.100 | 0.900 | 10 | 2002 | 2016 | |||||
|
3 | 0.882 | 0.080 | 19 | 6746039 | missense variant | C/G | snv | 0.010 | < 0.001 | 1 | 2002 | 2002 | |||||
|
3 | 0.882 | 0.080 | 6 | 31271730 | missense variant | G/C | snv | 0.010 | < 0.001 | 1 | 2002 | 2002 | |||||
|
7 | 0.790 | 0.160 | 9 | 21227623 | missense variant | A/C;G | snv | 0.12; 8.8E-06 | 0.010 | 1.000 | 1 | 2003 | 2003 | ||||
|
614 | 0.330 | 0.920 | 1 | 11796309 | missense variant | A/G | snv | 4.0E-06 | 7.0E-06 | 0.100 | 0.769 | 13 | 2004 | 2019 | |||
|
21 | 0.701 | 0.320 | 17 | 7675085 | missense variant | C/A;T | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2004 | 2004 | ||||
|
205 | 0.441 | 0.800 | 19 | 43551574 | missense variant | T/C | snv | 0.68 | 0.71 | 0.090 | 0.778 | 9 | 2005 | 2019 | |||
|
147 | 0.476 | 0.800 | 3 | 9757089 | missense variant | C/G | snv | 0.27 | 0.22 | 0.020 | 1.000 | 2 | 2005 | 2019 | |||
|
55 | 0.581 | 0.640 | 19 | 45352210 | missense variant | C/G;T | snv | 4.0E-06; 6.0E-05 | 0.010 | 1.000 | 1 | 2006 | 2006 | ||||
|
7 | 0.790 | 0.160 | 1 | 11794822 | missense variant | C/G;T | snv | 8.0E-06; 2.4E-05 | 0.010 | 1.000 | 1 | 2006 | 2006 | ||||
|
151 | 0.474 | 0.800 | 19 | 43553422 | missense variant | G/A | snv | 9.5E-02 | 7.0E-02 | 0.050 | 0.600 | 5 | 2008 | 2017 | |||
|
34 | 0.653 | 0.480 | 11 | 69648142 | splice region variant | G/A | snv | 0.45 | 0.39 | 0.040 | 1.000 | 4 | 2009 | 2018 | |||
|
223 | 0.438 | 0.800 | 9 | 117713024 | missense variant | A/G;T | snv | 6.1E-02; 4.0E-06 | 0.030 | 0.667 | 3 | 2009 | 2019 | ||||
|
29 | 0.649 | 0.600 | 3 | 159995680 | 3 prime UTR variant | G/A | snv | 0.16 | 0.030 | 1.000 | 3 | 2009 | 2017 | ||||
|
5 | 0.851 | 0.200 | 10 | 44378805 | intron variant | C/T | snv | 0.32 | 0.020 | 1.000 | 2 | 2009 | 2015 | ||||
|
65 | 0.566 | 0.840 | 5 | 159315942 | 3 prime UTR variant | T/G | snv | 0.26 | 0.020 | 1.000 | 2 | 2009 | 2012 | ||||
|
182 | 0.456 | 0.840 | 9 | 117713324 | missense variant | C/T | snv | 5.7E-02 | 4.9E-02 | 0.020 | 0.500 | 2 | 2009 | 2017 | |||
|
25 | 0.667 | 0.520 | 6 | 31573007 | missense variant | C/A | snv | 0.35 | 0.38 | 0.010 | 1.000 | 1 | 2009 | 2009 | |||
|
3 | 0.882 | 0.080 | 10 | 44386212 | non coding transcript exon variant | C/T | snv | 0.26 | 0.010 | 1.000 | 1 | 2009 | 2009 | ||||
|
43 | 0.605 | 0.800 | 7 | 22726602 | non coding transcript exon variant | A/G | snv | 0.72 | 0.010 | 1.000 | 1 | 2009 | 2009 | ||||
|
3 | 0.882 | 0.080 | 10 | 44370760 | 3 prime UTR variant | C/G;T | snv | 0.010 | 1.000 | 1 | 2009 | 2009 | |||||
|
131 | 0.500 | 0.840 | 6 | 159692840 | missense variant | A/G | snv | 0.48 | 0.47 | 0.010 | 1.000 | 1 | 2009 | 2009 |