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 | 0.807 | 0.120 | 2 | 240630275 | missense variant | C/T | snv | 0.16; 9.4E-06 | 0.19 | 0.800 | 1.000 | 1 | 2012 | 2012 | |||
|
2 | 1.000 | 0.120 | 7 | 117252792 | intergenic variant | T/C | snv | 0.52 | 0.800 | 1.000 | 1 | 2012 | 2012 | ||||
|
29 | 0.677 | 0.320 | 11 | 61796827 | 3 prime UTR variant | G/C;T | snv | 0.800 | 1.000 | 1 | 2012 | 2012 | |||||
|
16 | 0.716 | 0.400 | 9 | 114790969 | missense variant | T/A;C | snv | 0.76 | 0.800 | 1.000 | 1 | 2012 | 2012 | ||||
|
2 | 1.000 | 0.040 | 3 | 18725912 | intron variant | C/A;G;T | snv | 0.800 | 1.000 | 1 | 2012 | 2012 | |||||
|
10 | 0.790 | 0.400 | 6 | 32601914 | intergenic variant | G/A | snv | 0.27 | 0.800 | 1.000 | 1 | 2008 | 2008 | ||||
|
1 | 5 | 130681594 | intron variant | T/A;C | snv | 0.800 | 1.000 | 1 | 2012 | 2012 | |||||||
|
1 | 14 | 75234518 | downstream gene variant | C/T | snv | 0.14 | 0.800 | 1.000 | 1 | 2012 | 2012 | ||||||
|
1 | 20 | 32788476 | intron variant | T/G | snv | 0.42 | 0.800 | 1.000 | 1 | 2012 | 2012 | ||||||
|
2 | 1.000 | 0.040 | 16 | 50722863 | intron variant | C/G;T | snv | 0.800 | 1.000 | 1 | 2008 | 2008 | |||||
|
3 | 0.925 | 0.040 | 20 | 63717555 | intron variant | A/G;T | snv | 0.800 | 1.000 | 1 | 2012 | 2012 | |||||
|
1 | 20 | 32137845 | intron variant | A/G | snv | 0.69 | 0.800 | 1.000 | 1 | 2012 | 2012 | ||||||
|
2 | 1.000 | 0.080 | 11 | 118883644 | upstream gene variant | C/A | snv | 0.13 | 0.800 | 1.000 | 1 | 2012 | 2012 | ||||
|
12 | 0.752 | 0.320 | 9 | 114806486 | upstream gene variant | A/G | snv | 0.74 | 0.800 | 1.000 | 1 | 2008 | 2008 | ||||
|
1 | 2 | 24896016 | intron variant | C/T | snv | 0.53 | 0.800 | 1.000 | 1 | 2012 | 2012 | ||||||
|
2 | 1.000 | 0.040 | 6 | 105987150 | regulatory region variant | A/G | snv | 0.23 | 0.800 | 1.000 | 1 | 2012 | 2012 | ||||
|
1 | 11 | 87414396 | intergenic variant | A/G | snv | 0.69 | 0.800 | 1.000 | 1 | 2012 | 2012 | ||||||
|
3 | 1.000 | 0.040 | 1 | 155908941 | intron variant | A/G | snv | 0.48 | 0.800 | 1.000 | 1 | 2012 | 2012 | ||||
|
8 | 0.790 | 0.400 | 18 | 69863203 | 3 prime UTR variant | G/A | snv | 0.47 | 0.800 | 1.000 | 1 | 2012 | 2012 | ||||
|
1 | 16 | 80751551 | intron variant | T/A;C | snv | 0.710 | 1.000 | 1 | 2016 | 2016 | |||||||
|
1 | 1 | 154962487 | 3 prime UTR variant | G/A | snv | 1.2E-03 | 0.710 | 1.000 | 1 | 2016 | 2016 | ||||||
|
2 | 1.000 | 0.120 | 4 | 117413463 | non coding transcript exon variant | T/C | snv | 5.8E-02 | 0.710 | 1.000 | 1 | 2014 | 2014 | ||||
|
1 | 22 | 30174033 | intron variant | A/G | snv | 0.45 | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||||
|
2 | 1.000 | 0.040 | 5 | 130768383 | intron variant | A/C;G | snv | 0.700 | 1.000 | 1 | 2015 | 2015 | |||||
|
1 | 5 | 73222321 | intron variant | T/C | snv | 0.37 | 0.700 | 1.000 | 1 | 2015 | 2015 |