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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
9 | 0.790 | 0.320 | 6 | 31946247 | missense variant | T/A | snv | 3.9E-02 | 3.4E-02 | 0.070 | 1.000 | 7 | 2009 | 2019 | |||
|
5 | 0.851 | 0.160 | 6 | 31946402 | missense variant | C/G;T | snv | 4.1E-06; 0.12 | 0.020 | 0.500 | 2 | 2014 | 2019 | ||||
|
7 | 0.790 | 0.160 | 6 | 31946403 | missense variant | G/A;T | snv | 9.6E-02; 4.1E-06 | 0.900 | 0.947 | 19 | 2007 | 2019 | ||||
|
1 | 1.000 | 0.040 | 6 | 31946529 | missense variant | G/A | snv | 7.7E-04 | 2.0E-04 | 0.010 | 1.000 | 1 | 2016 | 2016 | |||
|
8 | 0.776 | 0.320 | 6 | 31947158 | synonymous variant | A/G | snv | 0.82 | 0.85 | 0.020 | 0.500 | 2 | 2009 | 2019 | |||
|
1 | 1.000 | 0.040 | 6 | 31948285 | non coding transcript exon variant | A/G | snv | 5.2E-02 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
3 | 0.882 | 0.160 | 6 | 31949174 | non coding transcript exon variant | T/C | snv | 0.12 | 0.810 | 1.000 | 3 | 2012 | 2013 | ||||
|
3 | 0.925 | 0.160 | 6 | 31950687 | missense variant | A/G | snv | 1.1E-02 | 1.8E-02 | 0.010 | 1.000 | 1 | 2009 | 2009 | |||
|
6 | 0.807 | 0.320 | 6 | 31951801 | 3 prime UTR variant | A/G | snv | 0.59 | 0.030 | 1.000 | 3 | 2009 | 2019 | ||||
|
1 | 1.000 | 0.040 | 6 | 31952053 | 3 prime UTR variant | C/G;T | snv | 4.1E-06; 3.9E-02 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
2 | 0.925 | 0.160 | 6 | 31952140 | 3 prime UTR variant | T/C | snv | 0.12 | 0.800 | 1.000 | 1 | 2013 | 2013 | ||||
|
3 | 0.882 | 0.280 | 6 | 31952179 | 3 prime UTR variant | T/C | snv | 0.12 | 0.010 | 1.000 | 1 | 2013 | 2013 |