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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
22 | 0.679 | 0.286 | 3 | 41224610 | missense variant | C/A,G,T | snp | 0.810 | 1.000 | 6 | 1999 | 2016 | |||||
|
15 | 0.724 | 0.214 | 3 | 41224621 | missense variant | T/C,G | snp | 0.800 | 1 | 2016 | 2016 | ||||||
|
13 | 0.724 | 0.179 | 3 | 41224606 | missense variant | G/A,C,T | snp | 0.700 | 3 | 2015 | 2016 | ||||||
|
2 | 0.923 | 0.036 | 7 | 129209348 | missense variant | G/A,C | snp | 2.4E-05 | 0.700 | 2 | 2009 | 2012 | |||||
|
10 | 0.744 | 0.250 | 3 | 41224613 | missense variant | G/A,C,T | snp | 0.700 | 2 | 2016 | 2016 | ||||||
|
10 | 0.756 | 0.214 | 16 | 3738616 | missense variant | C/A,T | snp | 0.700 | 1 | 2016 | 2016 | ||||||
|
11 | 0.744 | 0.250 | 3 | 41224609 | missense variant | T/A,C,G | snp | 0.700 | 1 | 2016 | 2016 | ||||||
|
5 | 0.821 | 0.179 | 22 | 41169525 | missense variant | G/A,T | snp | 0.700 | 1 | 2016 | 2016 | ||||||
|
13 | 0.734 | 0.214 | 4 | 152328232 | missense variant | C/A,G,T | snp | 0.700 | 1 | 2016 | 2016 | ||||||
|
6 | 0.801 | 0.214 | 8 | 38414788 | missense variant | C/G,T | snp | 4.0E-06 | 0.700 | 1 | 2016 | 2016 | |||||
|
5 | 0.846 | 0.107 | 8 | 38417333 | missense variant | T/C | snp | 0.700 | 1 | 2016 | 2016 | ||||||
|
5 | 0.846 | 0.107 | 8 | 38417879 | missense variant | T/C | snp | 0.700 | 1 | 2016 | 2016 | ||||||
|
5 | 0.846 | 0.143 | 2 | 15942195 | missense variant | C/T | snp | 0.700 | 1 | 2016 | 2016 | ||||||
|
8 | 0.801 | 0.143 | 3 | 179199066 | missense variant | G/A | snp | 0.700 | 1 | 2016 | 2016 | ||||||
|
21 | 0.679 | 0.286 | 3 | 179234298 | missense variant | T/G | snp | 0.700 | 1 | 2016 | 2016 | ||||||
|
12 | 0.756 | 0.179 | 3 | 179218308 | missense variant | G/T | snp | 0.700 | 1 | 2016 | 2016 | ||||||
|
7 | 0.821 | 0.250 | 11 | 66063413 | missense variant | A/G | snp | 0.700 | 1 | 2016 | 2016 | ||||||
|
2 | 0.923 | 0.143 | 10 | 102615266 | splice acceptor variant | A/T | snp | 0.700 | 1 | 2017 | 2017 | ||||||
|
2 | 0.923 | 0.143 | 10 | 102549993 | frameshift variant | AG/A | in-del | 0.700 | 1 | 2017 | 2017 | ||||||
|
2 | 0.923 | 0.143 | 10 | 102550088 | stop gained | C/T | snp | 6.4E-05 | 0.700 | 1 | 2017 | 2017 | |||||
|
40 | 0.618 | 0.464 | 17 | 7674220 | missense variant | C/A,G,T | snp | 1.2E-05 | 0.700 | 1 | 2016 | 2016 | |||||
|
19 | 0.692 | 0.357 | 1 | 114716124 | missense variant | C/A,G,T | snp | 0.700 | 1 | 2016 | 2016 | ||||||
|
18 | 0.707 | 0.357 | 1 | 114716123 | missense variant | C/A,G,T | snp | 4.0E-06; 4.0E-06 | 0.700 | 1 | 2016 | 2016 | |||||
|
41 | 0.618 | 0.464 | 17 | 7674221 | missense variant | G/A,C | snp | 4.0E-06 | 0.700 | 1 | 2016 | 2016 | |||||
|
22 | 0.679 | 0.464 | 17 | 7673806 | missense variant | C/A,T | snp | 4.0E-06 | 0.700 | 1 | 2016 | 2016 |