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 | 0.851 | 0.200 | 6 | 31125810 | 5 prime UTR variant | G/A | snv | 0.25 | 0.700 | 1.000 | 1 | 2009 | 2009 | ||||
|
8 | 0.925 | 0.120 | 6 | 31133165 | intron variant | G/A | snv | 0.23 | 0.700 | 1.000 | 1 | 2009 | 2009 | ||||
|
1 | 1 | 107035210 | intergenic variant | G/A;T | snv | 0.800 | 1.000 | 1 | 2009 | 2009 | |||||||
|
8 | 0.790 | 0.240 | 6 | 28808340 | intergenic variant | G/A | snv | 7.2E-02 | 0.700 | 1.000 | 1 | 2009 | 2009 | ||||
|
6 | 0.925 | 0.120 | 6 | 31133165 | intron variant | G/A | snv | 0.700 | 1.000 | 1 | 2009 | 2009 | |||||
|
5 | 1.000 | 6 | 30880476 | intron variant | T/C | snv | 0.25 | 0.700 | 1.000 | 1 | 2009 | 2009 | |||||
|
16 | 0.742 | 0.320 | 6 | 30064745 | 3 prime UTR variant | A/C | snv | 5.4E-02 | 5.9E-02 | 0.800 | 1.000 | 1 | 2009 | 2009 | |||
|
10 | 0.807 | 0.280 | 6 | 30070870 | 3 prime UTR variant | T/C;G | snv | 5.2E-02; 7.2E-06 | 0.700 | 1.000 | 1 | 2009 | 2009 | ||||
|
8 | 0.851 | 0.200 | 6 | 31834764 | non coding transcript exon variant | T/C | snv | 3.2E-02 | 0.700 | 1.000 | 1 | 2009 | 2009 | ||||
|
108 | 0.508 | 0.800 | 1 | 206773289 | 5 prime UTR variant | A/G | snv | 0.69 | 0.010 | 1.000 | 1 | 2010 | 2010 | ||||
|
1 | 2 | 205453869 | intron variant | C/G | snv | 0.11 | 0.800 | 1.000 | 1 | 2011 | 2011 | ||||||
|
1 | 7 | 137519073 | intron variant | G/A;C | snv | 0.800 | 1.000 | 1 | 2011 | 2011 | |||||||
|
5 | 0.851 | 0.160 | 19 | 11131368 | synonymous variant | G/A | snv | 0.24 | 0.22 | 0.010 | 1.000 | 1 | 2013 | 2013 | |||
|
1 | 19 | 17403506 | intron variant | T/C;G | snv | 0.010 | 1.000 | 1 | 2016 | 2016 | |||||||
|
169 | 0.472 | 0.920 | 6 | 31575254 | upstream gene variant | G/A | snv | 0.12 | 0.14 | 0.010 | 1.000 | 1 | 2019 | 2019 | |||
|
34 | 0.641 | 0.600 | 6 | 31572536 | intron variant | A/G;T | snv | 0.010 | 1.000 | 1 | 2019 | 2019 | |||||
|
11 | 0.827 | 0.280 | 6 | 32828974 | missense variant | T/C | snv | 0.31 | 0.26 | 0.010 | 1.000 | 1 | 2020 | 2020 |