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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
19 | 0.701 | 0.520 | 1 | 23875429 | missense variant | TT/CC | mnv | 0.020 | 0.500 | 2 | 2014 | 2019 | |||||
|
6 | 0.827 | 0.120 | 6 | 21430497 | intergenic variant | TAG/CAT | mnv | 0.700 | 1.000 | 2 | 2015 | 2017 | |||||
|
3 | 0.925 | 0.040 | 10 | 77811115 | frameshift variant | G/-;GG | delins | 0.030 | 1.000 | 3 | 2007 | 2016 | |||||
|
36 | 0.658 | 0.440 | 5 | 112839511 | frameshift variant | TAAA/- | delins | 0.020 | 1.000 | 2 | 1999 | 2001 | |||||
|
7 | 0.807 | 0.200 | 16 | 50729868 | frameshift variant | C/-;CC | delins | 0.020 | 1.000 | 2 | 2010 | 2016 | |||||
|
3 | 0.925 | 0.040 | 9 | 4981601 | upstream gene variant | CC/A;C | delins | 4.6E-02 | 0.700 | 1.000 | 2 | 2015 | 2017 | ||||
|
14 | 0.732 | 0.480 | 1 | 23875429 | frameshift variant | TT/C;T | delins | 0.020 | 0.500 | 2 | 2014 | 2019 | |||||
|
1 | 17 | 27801261 | intron variant | ATTT/-;ATTTATTT;ATTTATTTATTT | delins | 0.010 | 1.000 | 1 | 2017 | 2017 | |||||||
|
2 | 1.000 | 0.040 | 2 | 186711652 | intron variant | T/-;TT | delins | 0.700 | 1.000 | 1 | 2017 | 2017 | |||||
|
56 | 0.592 | 0.720 | 4 | 102500998 | non coding transcript exon variant | ATTG/- | delins | 0.010 | 1.000 | 1 | 2017 | 2017 | |||||
|
46 | 0.597 | 0.680 | 1 | 67240275 | missense variant | G/A | snv | 4.2E-02 | 4.6E-02 | 0.900 | 0.773 | 22 | 2006 | 2020 | |||
|
223 | 0.438 | 0.800 | 9 | 117713024 | missense variant | A/G;T | snv | 6.1E-02; 4.0E-06 | 0.100 | 0.917 | 12 | 2004 | 2019 | ||||
|
46 | 0.611 | 0.600 | 16 | 50722629 | missense variant | G/C;T | snv | 1.1E-02; 2.2E-04 | 0.100 | 1.000 | 11 | 2002 | 2017 | ||||
|
214 | 0.456 | 0.840 | 7 | 87509329 | synonymous variant | A/G;T | snv | 0.50 | 0.100 | 0.800 | 10 | 2003 | 2015 | ||||
|
8 | 0.807 | 0.080 | 10 | 77856847 | missense variant | T/A;C | snv | 0.93 | 0.100 | 0.700 | 10 | 2005 | 2016 | ||||
|
54 | 0.587 | 0.520 | 16 | 50712015 | missense variant | C/T | snv | 2.6E-02 | 2.9E-02 | 0.790 | 1.000 | 10 | 2002 | 2017 | |||
|
182 | 0.456 | 0.840 | 9 | 117713324 | missense variant | C/T | snv | 5.7E-02 | 4.9E-02 | 0.080 | 0.750 | 8 | 2005 | 2019 | |||
|
12 | 0.742 | 0.400 | 13 | 48045719 | missense variant | C/T | snv | 2.8E-02 | 1.1E-02 | 0.750 | 1.000 | 7 | 2016 | 2019 | |||
|
37 | 0.627 | 0.600 | 2 | 233274722 | missense variant | A/G | snv | 0.45 | 0.44 | 0.070 | 1.000 | 7 | 2007 | 2020 | |||
|
16 | 0.732 | 0.280 | 3 | 49684099 | missense variant | G/A | snv | 0.26 | 0.27 | 0.850 | 1.000 | 7 | 2008 | 2017 | |||
|
99 | 0.531 | 0.760 | 19 | 10285007 | missense variant | A/G | snv | 0.44 | 0.37 | 0.060 | 1.000 | 6 | 2003 | 2015 | |||
|
9 | 0.790 | 0.200 | 16 | 50710807 | missense variant | G/A | snv | 1.2E-05 | 2.1E-05 | 0.060 | 1.000 | 6 | 2004 | 2017 | |||
|
614 | 0.330 | 0.920 | 1 | 11796309 | missense variant | A/G | snv | 4.0E-06 | 7.0E-06 | 0.050 | 1.000 | 5 | 1999 | 2016 | |||
|
121 | 0.498 | 0.800 | 1 | 113834946 | missense variant | A/G | snv | 0.93 | 0.93 | 0.050 | 0.600 | 5 | 2005 | 2016 | |||
|
10 | 0.776 | 0.480 | 5 | 132340627 | missense variant | C/T | snv | 0.29 | 0.28 | 0.040 | 1.000 | 4 | 2006 | 2017 |