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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
214 | 0.456 | 0.840 | 7 | 87509329 | synonymous variant | A/G;T | snv | 0.50 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
7 | 0.807 | 0.320 | 2 | 21032408 | missense variant | G/A;C;T | snv | 1.7E-04; 8.0E-06 | 0.010 | 1.000 | 1 | 2006 | 2006 | ||||
|
16 | 0.708 | 0.480 | 5 | 79126136 | missense variant | G/A | snv | 0.30 | 0.28 | 0.030 | 1.000 | 3 | 2018 | 2019 | |||
|
40 | 0.623 | 0.680 | 21 | 43062358 | missense variant | G/A;T | snv | 8.0E-06; 4.0E-06 | 0.060 | 1.000 | 6 | 2003 | 2018 | ||||
|
22 | 0.701 | 0.360 | 21 | 43063074 | missense variant | A/G | snv | 0.030 | 1.000 | 3 | 1999 | 2012 | |||||
|
5 | 0.851 | 0.160 | 21 | 43058215 | missense variant | G/A | snv | 1.2E-05 | 0.020 | 0.500 | 2 | 2008 | 2009 | ||||
|
13 | 0.752 | 0.360 | 21 | 43058894 | missense variant | T/G | snv | 5.6E-06 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
11 | 0.763 | 0.240 | 21 | 43063074 | coding sequence variant | -/CCCAGCAAAAGCCCCACCTGGATGATCCACCCCAGTGATCTGCAGAGGGCGCGGCTTCAGGGCTCAAG;CCCAGCAAAAGCCCCACCTGGGTGATCCACCCCAGTGATCTGCAGAGGGCGCGGCTTCAGGGCTCAAG | delins | 0.010 | 1.000 | 1 | 2012 | 2012 | |||||
|
23 | 0.667 | 0.520 | 3 | 46373453 | frameshift variant | GTCAGTATCAATTCTGGAAGAATTTCCAGACA/- | delins | 7.3E-02 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
2 | 0.925 | 0.080 | 16 | 56972000 | missense variant | C/T | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2002 | 2002 | ||||
|
2 | 0.925 | 0.080 | 3 | 53823890 | missense variant | T/G | snv | 0.15 | 0.17 | 0.010 | 1.000 | 1 | 2009 | 2009 | |||
|
88 | 0.533 | 0.720 | 15 | 74720644 | missense variant | T/A;C;G | snv | 0.11 | 5.9E-02 | 0.010 | 1.000 | 1 | 2013 | 2013 | |||
|
36 | 0.630 | 0.640 | 15 | 74719300 | downstream gene variant | A/G;T | snv | 0.18 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
102 | 0.524 | 0.760 | 11 | 46725976 | missense variant | C/T | snv | 8.0E-06 | 0.100 | 1.000 | 13 | 1999 | 2016 | ||||
|
82 | 0.547 | 0.720 | 11 | 46739084 | missense variant | G/A;C | snv | 0.040 | 1.000 | 4 | 1999 | 2013 | |||||
|
65 | 0.574 | 0.680 | 1 | 169546513 | missense variant | T/C | snv | 4.0E-06 | 0.020 | 1.000 | 2 | 2006 | 2013 | ||||
|
9 | 0.790 | 0.320 | 11 | 49206785 | missense variant | C/G;T | snv | 0.010 | 1.000 | 1 | 2014 | 2014 | |||||
|
16 | 0.724 | 0.400 | 11 | 49185773 | missense variant | G/A | snv | 4.1E-06 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
12 | 0.763 | 0.360 | 11 | 49164722 | missense variant | G/A | snv | 3.7E-02 | 4.0E-02 | 0.010 | 1.000 | 1 | 2000 | 2000 | |||
|
7 | 0.851 | 0.200 | 16 | 53774346 | intron variant | A/G | snv | 0.71 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
1 | 1.000 | 0.080 | 10 | 99235705 | missense variant | A/G | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2001 | 2001 | ||||
|
187 | 0.458 | 0.760 | 9 | 5073770 | missense variant | G/A;T | snv | 3.5E-04 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
5 | 0.851 | 0.080 | 19 | 11110759 | stop gained | C/A;G;T | snv | 4.0E-06; 4.0E-06; 8.0E-06 | 0.010 | 1.000 | 1 | 2002 | 2002 | ||||
|
17 | 0.708 | 0.480 | 10 | 52771925 | upstream gene variant | G/A;C;T | snv | 0.010 | 1.000 | 1 | 2013 | 2013 | |||||
|
614 | 0.330 | 0.920 | 1 | 11796309 | missense variant | A/G | snv | 4.0E-06 | 7.0E-06 | 0.100 | 0.936 | 156 | 1996 | 2019 |