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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
5 | 0.923 | 0.143 | 17 | 47946670 | missense variant | G/A,T | snp | 4.0E-05 | 3.2E-05 | 0.710 | 1.000 | 1 | 2014 | 2014 | |||
|
4 | 0.923 | 0.071 | 2 | 165354232 | missense variant | G/T | snp | 0.700 | 2 | 2010 | 2015 | ||||||
|
18 | 0.821 | 0.179 | 14 | 87988523 | missense variant | C/T | snp | 0.700 | 1 | 2015 | 2015 | ||||||
|
7 | 0.923 | 0.143 | 4 | 25156851 | splice region variant | C/T | snp | 0.700 | 1 | 2015 | 2015 | ||||||
|
7 | X | 71132465 | missense variant | G/A | snp | 0.700 | 1 | 2015 | 2015 | ||||||||
|
2 | 17 | 44855003 | missense variant | T/A | snp | 0.700 | 1 | 2015 | 2015 | ||||||||
|
5 | 1.000 | 0.036 | 14 | 102012450 | missense variant | C/T | snp | 0.700 | 1 | 2015 | 2015 | ||||||
|
6 | 0.846 | 0.179 | X | 68210239 | missense variant | A/G | snp | 0.700 | 1 | 2015 | 2015 | ||||||
|
3 | 14 | 102348559 | stop lost | A/C | snp | 0.700 | 1 | 2016 | 2016 | ||||||||
|
10 | 0.821 | 0.107 | 16 | 89546662 | inframe deletion | AGGCGGGAGA/A | in-del | 0.700 | 1 | 2015 | 2015 | ||||||
|
14 | 0.878 | 0.143 | 9 | 92719007 | inframe deletion | CATT/C | in-del | 0.700 | 1 | 2015 | 2015 | ||||||
|
6 | 1.000 | 0.071 | 3 | 7578930 | missense variant | C/A,T | snp | 4.0E-06 | 0.700 | 1 | 2017 | 2017 | |||||
|
2 | 1.000 | 20 | 63439613 | inframe deletion | AGAA/A | in-del | 0.700 | 1 | 2015 | 2015 | |||||||
|
5 | 0.923 | 0.107 | 9 | 132900829 | frameshift variant | TGTTT/T | in-del | 0.700 | 1 | 2015 | 2015 | ||||||
|
6 | 1.000 | 0.071 | X | 120544179 | stop gained | G/A | snp | 0.700 | 1 | 2015 | 2015 | ||||||
|
3 | 1.000 | 0.036 | 5 | 126583997 | stop gained | G/A,C | snp | 6.0E-05; 4.0E-06 | 9.6E-05 | 0.700 | 1 | 2015 | 2015 | ||||
|
4 | 0.923 | 0.036 | 2 | 165994176 | missense variant | C/A | snp | 0.700 | 1 | 2015 | 2015 | ||||||
|
2 | 1.000 | 0.036 | 2 | 166037907 | missense variant | G/A | snp | 0.700 | 1 | 2015 | 2015 | ||||||
|
2 | 1.000 | 0.036 | 2 | 165991841 | missense variant | A/C | snp | 0.700 | 1 | 2015 | 2015 | ||||||
|
2 | 17 | 12752540 | missense variant | A/G | snp | 1.6E-04 | 7.3E-04 | 0.700 | 1 | 2015 | 2015 | ||||||
|
3 | 1.000 | 0.036 | 5 | 126545020 | splice acceptor variant | C/A,T | snp | 1.6E-05; 4.0E-06 | 0.700 | 1 | 2015 | 2015 | |||||
|
3 | 1 | 109628692 | missense variant | G/A | snp | 0.700 | 1 | 2015 | 2015 | ||||||||
|
3 | 1.000 | 0.107 | 15 | 40987186 | missense variant | C/T | snp | 3.1E-04 | 7.0E-04 | 0.700 | 1 | 2015 | 2015 | ||||
|
3 | 5 | 141122913 | frameshift variant | AA/A | in-del | 0.700 | 1 | 2015 | 2015 | ||||||||
|
5 | 1.000 | 4 | 106194717 | splice donor variant | C/A,T | snp | 4.3E-06; 8.7E-06 | 3.2E-05 | 0.700 | 1 | 2015 | 2015 |