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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
6 | 0.851 | 0.080 | 2 | 190995185 | missense variant | G/A;C | snv | 0.800 | 1.000 | 12 | 2011 | 2017 | |||||
|
4 | 0.851 | 0.080 | 2 | 190995205 | missense variant | G/A | snv | 0.800 | 1.000 | 10 | 2011 | 2016 | |||||
|
16 | 0.716 | 0.440 | 2 | 190986921 | missense variant | G/A | snv | 0.800 | 1.000 | 10 | 2011 | 2017 | |||||
|
13 | 0.790 | 0.200 | 2 | 190995184 | missense variant | C/T | snv | 0.800 | 1.000 | 5 | 2011 | 2015 | |||||
|
1 | 1.000 | 2 | 190995148 | missense variant | T/A | snv | 0.800 | 1.000 | 5 | 2011 | 2015 | ||||||
|
2 | 0.925 | 0.080 | 2 | 190998246 | missense variant | T/C | snv | 0.800 | 1.000 | 5 | 2011 | 2015 | |||||
|
1 | 1.000 | 2 | 190999647 | missense variant | A/G | snv | 0.800 | 1.000 | 5 | 2011 | 2015 | ||||||
|
1 | 1.000 | 2 | 190999673 | missense variant | T/C | snv | 0.800 | 1.000 | 5 | 2011 | 2015 | ||||||
|
1 | 1.000 | 2 | 190995143 | missense variant | T/C | snv | 0.800 | 1.000 | 5 | 2011 | 2015 | ||||||
|
1 | 1.000 | 2 | 190999659 | missense variant | A/T | snv | 0.800 | 1.000 | 5 | 2011 | 2015 | ||||||
|
1 | 1.000 | 2 | 190999674 | missense variant | C/G | snv | 0.800 | 1.000 | 5 | 2011 | 2015 | ||||||
|
1 | 1.000 | 2 | 190995193 | missense variant | T/G | snv | 0.800 | 1.000 | 5 | 2011 | 2015 | ||||||
|
1 | 1.000 | 2 | 190999630 | missense variant | G/T | snv | 0.800 | 1.000 | 5 | 2011 | 2015 | ||||||
|
1 | 1.000 | 2 | 190995151 | missense variant | T/C | snv | 0.800 | 1.000 | 5 | 2011 | 2015 | ||||||
|
1 | 1.000 | 2 | 190995173 | missense variant | T/C | snv | 0.800 | 1.000 | 5 | 2011 | 2015 | ||||||
|
2 | 0.925 | 0.080 | 2 | 190986924 | missense variant | C/T | snv | 0.800 | 0 | ||||||||
|
3 | 0.882 | 2 | 190995129 | missense variant | G/T | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||||
|
3 | 0.882 | 2 | 190995139 | missense variant | T/C | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||||
|
3 | 0.882 | 2 | 190986913 | missense variant | T/G | snv | 0.700 | 0 | |||||||||
|
1 | 1.000 | 2 | 190998244 | missense variant | C/T | snv | 0.700 | 0 |