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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
5 | 0.851 | 0.040 | 10 | 31510841 | missense variant | G/A | snv | 4.0E-06 | 1.4E-05 | 0.010 | 1.000 | 1 | 2017 | 2017 | |||
|
205 | 0.441 | 0.800 | 19 | 43551574 | missense variant | T/C | snv | 0.68 | 0.71 | 0.020 | 1.000 | 2 | 2013 | 2016 | |||
|
5 | 0.827 | 0.040 | 6 | 43768759 | upstream gene variant | T/C | snv | 0.60 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
82 | 0.542 | 0.840 | 6 | 43770613 | 5 prime UTR variant | C/G | snv | 0.68 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
8 | 0.776 | 0.120 | 6 | 43775770 | non coding transcript exon variant | C/T | snv | 3.8E-02 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
42 | 0.605 | 0.600 | 6 | 43769749 | upstream gene variant | C/G;T | snv | 0.010 | 1.000 | 1 | 2018 | 2018 | |||||
|
11 | 0.742 | 0.200 | 22 | 43162920 | missense variant | A/G | snv | 0.76 | 0.75 | 0.010 | 1.000 | 1 | 2017 | 2017 | |||
|
5 | 0.827 | 0.040 | 6 | 41163980 | upstream gene variant | A/G | snv | 2.2E-03 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
6 | 0.807 | 0.080 | 1 | 3732781 | missense variant | G/A;T | snv | 8.6E-06; 4.3E-06 | 2.1E-05 | 0.010 | 1.000 | 1 | 2011 | 2011 | |||
|
7 | 0.807 | 0.080 | 1 | 3732940 | missense variant | G/A | snv | 8.5E-06 | 1.4E-05 | 0.010 | 1.000 | 1 | 2011 | 2011 | |||
|
78 | 0.554 | 0.600 | 17 | 7673802 | missense variant | C/A;G;T | snv | 4.0E-06; 1.6E-05 | 0.040 | 1.000 | 4 | 2009 | 2018 | ||||
|
242 | 0.426 | 0.800 | 17 | 7676154 | missense variant | G/C;T | snv | 0.67 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
214 | 0.439 | 0.800 | 17 | 7676154 | frameshift variant | -/C | ins | 0.010 | 1.000 | 1 | 2013 | 2013 | |||||
|
26 | 0.683 | 0.240 | 17 | 7673781 | missense variant | C/A;G;T | snv | 0.010 | 1.000 | 1 | 2009 | 2009 | |||||
|
44 | 0.611 | 0.520 | 17 | 7673803 | missense variant | G/A;C;T | snv | 1.2E-05 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
47 | 0.605 | 0.600 | 17 | 7675088 | missense variant | C/A;T | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||
|
10 | 0.790 | 0.120 | 17 | 7673772 | missense variant | C/G;T | snv | 4.0E-05 | 7.0E-06 | 0.010 | 1.000 | 1 | 2002 | 2002 | |||
|
40 | 0.627 | 0.400 | 17 | 7673751 | missense variant | C/A;G;T | snv | 1.6E-04 | 1.3E-04 | 0.010 | 1.000 | 1 | 2013 | 2013 | |||
|
32 | 0.645 | 0.440 | 17 | 7674947 | missense variant | A/C;G;T | snv | 0.010 | 1.000 | 1 | 2009 | 2009 | |||||
|
5 | 0.851 | 0.040 | 17 | 7673750 | frameshift variant | -/TTTCCGCCGG | delins | 4.0E-06 | 0.010 | 1.000 | 1 | 2009 | 2009 | ||||
|
5 | 0.851 | 0.040 | 17 | 7673748 | missense variant | T/C | snv | 8.0E-06 | 0.010 | 1.000 | 1 | 2009 | 2009 | ||||
|
213 | 0.439 | 0.800 | 17 | 7676153 | missense variant | GG/AC | mnv | 0.010 | 1.000 | 1 | 2013 | 2013 | |||||
|
32 | 0.649 | 0.640 | 19 | 41353016 | missense variant | G/A;C | snv | 0.010 | 1.000 | 1 | 2019 | 2019 | |||||
|
48 | 0.600 | 0.600 | 5 | 1293971 | synonymous variant | C/T | snv | 0.29 | 0.22 | 0.010 | 1.000 | 1 | 2011 | 2011 | |||
|
83 | 0.550 | 0.880 | 5 | 1286401 | 3 prime UTR variant | C/A | snv | 0.52 | 0.010 | 1.000 | 1 | 2011 | 2011 |