Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Disease | Score vda | EI vda | N. PMIDs | First Ref. | Last Ref. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
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 | |||||||
|
0.827 | 0.240 | 6 | 32059031 | intron variant | G/A | snv | 0.10 |
|
0.700 | 1.000 | 1 | 2009 | 2009 | ||||||||
|
0.472 | 0.920 | 6 | 31575254 | upstream gene variant | G/A | snv | 0.12 | 0.14 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | |||||||
|
0.851 | 0.200 | 6 | 31576412 | intron variant | A/G | snv | 7.1E-02 |
|
0.700 | 1.000 | 1 | 2009 | 2009 | ||||||||
|
0.827 | 0.280 | 6 | 32828974 | missense variant | T/C | snv | 0.31 | 0.26 |
|
0.010 | 1.000 | 1 | 2020 | 2020 | |||||||
|
0.851 | 0.200 | 6 | 31834764 | non coding transcript exon variant | T/C | snv | 3.2E-02 |
|
0.700 | 1.000 | 1 | 2009 | 2009 | ||||||||
|
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 | ||||||||
|
0.851 | 0.200 | 6 | 31125810 | 5 prime UTR variant | G/A | snv | 0.25 |
|
0.700 | 1.000 | 1 | 2009 | 2009 | ||||||||
|
0.925 | 0.120 | 6 | 31133165 | intron variant | G/A | snv | 0.23 |
|
0.700 | 1.000 | 1 | 2009 | 2009 | ||||||||
|
0.925 | 0.120 | 6 | 31133165 | intron variant | G/A | snv |
|
0.700 | 1.000 | 1 | 2009 | 2009 | |||||||||
|
2 | 205453869 | intron variant | C/G | snv | 0.11 |
|
0.800 | 1.000 | 1 | 2011 | 2011 | ||||||||||
|
0.925 | 0.160 | 6 | 29374998 | missense variant | G/A | snv | 5.5E-02 | 5.7E-02 |
|
0.700 | 1.000 | 1 | 2009 | 2009 | |||||||
|
0.882 | 0.160 | 6 | 31482217 | intron variant | T/C | snv | 0.19 |
|
0.700 | 1.000 | 1 | 2009 | 2009 | ||||||||
|
0.641 | 0.600 | 6 | 31572536 | intron variant | A/G;T | snv |
|
0.010 | 1.000 | 1 | 2019 | 2019 | |||||||||
|
0.882 | 0.160 | 6 | 29063365 | intron variant | C/A | snv | 5.2E-02 |
|
0.700 | 1.000 | 1 | 2009 | 2009 | ||||||||
|
0.851 | 0.160 | 19 | 11131368 | synonymous variant | G/A | snv | 0.24 | 0.22 |
|
0.010 | 1.000 | 1 | 2013 | 2013 | |||||||
|
2 | 8731746 | missense variant | G/C | snv | 4.0E-06 |
|
0.010 | 1.000 | 1 | 2009 | 2009 | ||||||||||
|
2 | 8813255 | missense variant | A/C;G | snv | 4.0E-06; 8.0E-06 |
|
0.010 | 1.000 | 1 | 2009 | 2009 | ||||||||||
|
0.508 | 0.800 | 1 | 206773289 | 5 prime UTR variant | A/G | snv | 0.69 |
|
0.010 | 1.000 | 1 | 2010 | 2010 | ||||||||
|
0.807 | 0.200 | 6 | 31306778 | intron variant | C/T | snv | 0.12 |
|
0.800 | 1.000 | 1 | 2009 | 2009 | ||||||||
|
0.882 | 0.160 | 6 | 31295974 | intron variant | T/C | snv | 0.20 |
|
0.700 | 1.000 | 1 | 2009 | 2009 | ||||||||
|
0.925 | 0.120 | 6 | 31464348 | non coding transcript exon variant | C/T | snv | 0.44 |
|
0.700 | 1.000 | 1 | 2009 | 2009 | ||||||||
|
0.790 | 0.320 | 6 | 31464003 | non coding transcript exon variant | T/G | snv | 2.7E-02 | 2.4E-02 |
|
0.800 | 1.000 | 1 | 2009 | 2009 | |||||||
|
0.807 | 0.280 | 6 | 30311353 | intron variant | G/A | snv | 6.6E-02 |
|
0.700 | 1.000 | 1 | 2009 | 2009 | ||||||||
|
0.827 | 0.280 | 6 | 29569447 | intron variant | A/G | snv | 6.0E-02 |
|
0.700 | 1.000 | 1 | 2009 | 2009 |