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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
8 | 0.776 | 0.280 | 16 | 13935697 | missense variant | C/G;T | snv | 1.2E-05; 6.4E-05 | 0.700 | 1.000 | 6 | 2010 | 2016 | ||||
|
4 | 0.851 | 0.240 | 16 | 13947991 | missense variant | C/G;T | snv | 4.8E-04 | 0.700 | 1.000 | 4 | 1996 | 2011 | ||||
|
1 | 1.000 | 0.160 | 16 | 13928118 | missense variant | A/G | snv | 4.0E-06 | 0.700 | 1.000 | 4 | 1996 | 1999 | ||||
|
1 | 1.000 | 0.160 | 16 | 13935469 | missense variant | G/A | snv | 4.0E-06 | 0.700 | 1.000 | 4 | 1996 | 1999 | ||||
|
3 | 0.882 | 0.240 | 16 | 13935663 | frameshift variant | C/- | del | 0.700 | 1.000 | 1 | 2013 | 2013 | |||||
|
4 | 0.851 | 0.200 | 16 | 13928149 | missense variant | T/C | snv | 7.0E-06 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||
|
1 | 1.000 | 0.160 | 16 | 13947896 | frameshift variant | TCTC/- | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.160 | 16 | 13935401 | missense variant | G/A | snv | 0.700 | 0 | ||||||||
|
15 | 0.732 | 0.320 | 16 | 13949318 | 3 prime UTR variant | C/A;G | snv | 0.040 | 0.750 | 4 | 2013 | 2019 | |||||
|
62 | 0.572 | 0.640 | 19 | 45420395 | synonymous variant | A/G | snv | 0.50 | 0.55 | 0.030 | 1.000 | 3 | 2013 | 2014 | |||
|
42 | 0.620 | 0.400 | 19 | 45409478 | stop gained | C/A;G;T | snv | 0.29; 4.3E-06; 4.3E-06 | 0.030 | 1.000 | 3 | 2013 | 2014 | ||||
|
8 | 0.776 | 0.200 | 16 | 13919809 | upstream gene variant | A/C | snv | 0.27 | 0.030 | 1.000 | 3 | 2013 | 2014 | ||||
|
242 | 0.426 | 0.800 | 17 | 7676154 | missense variant | G/C;T | snv | 0.67 | 0.020 | 1.000 | 2 | 2013 | 2016 | ||||
|
214 | 0.439 | 0.800 | 17 | 7676154 | frameshift variant | -/C | ins | 0.020 | 1.000 | 2 | 2013 | 2016 | |||||
|
21 | 0.683 | 0.400 | 17 | 7675143 | missense variant | C/A;T | snv | 4.0E-05 | 0.020 | 1.000 | 2 | 2013 | 2016 | ||||
|
188 | 0.457 | 0.880 | 11 | 67585218 | missense variant | A/G | snv | 0.34 | 0.36 | 0.020 | 1.000 | 2 | 2013 | 2016 | |||
|
3 | 0.882 | 0.200 | 16 | 13949157 | 3 prime UTR variant | G/A;C | snv | 0.020 | 1.000 | 2 | 2013 | 2014 | |||||
|
25 | 0.653 | 0.400 | 19 | 45423658 | intron variant | C/A;T | snv | 0.020 | 1.000 | 2 | 2014 | 2014 | |||||
|
213 | 0.439 | 0.800 | 17 | 7676153 | missense variant | GG/AC | mnv | 0.020 | 1.000 | 2 | 2013 | 2016 | |||||
|
4 | 0.851 | 0.400 | 19 | 45414870 | missense variant | G/A;C | snv | 1.2E-05; 1.6E-05 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
2 | 0.925 | 0.160 | 10 | 49517092 | missense variant | T/A;C | snv | 8.0E-06; 6.8E-05 | 0.010 | 1.000 | 1 | 2007 | 2007 | ||||
|
1 | 1.000 | 0.160 | 16 | 13920421 | intron variant | G/A | snv | 0.12 | 7.7E-02 | 0.010 | < 0.001 | 1 | 2014 | 2014 | |||
|
9 | 0.807 | 0.360 | 16 | 13948101 | synonymous variant | T/C | snv | 0.27 | 0.25 | 0.010 | 1.000 | 1 | 2016 | 2016 | |||
|
2 | 0.925 | 0.200 | 16 | 13934224 | missense variant | C/T | snv | 4.0E-03 | 4.6E-03 | 0.010 | 1.000 | 1 | 2019 | 2019 | |||
|
17 | 0.716 | 0.320 | 16 | 13935176 | missense variant | G/A | snv | 5.6E-02 | 5.3E-02 | 0.010 | 1.000 | 1 | 2014 | 2014 |