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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
2 | 1.000 | 0.107 | 12 | 11884481 | missense variant | T/C | snp | 0.710 | 1.000 | 1 | 2016 | 2016 | |||||
|
10 | 22 | 36292059 | missense variant | T/C | snp | 0.700 | 1 | 2015 | 2015 | ||||||||
|
3 | 1.000 | 0.107 | 12 | 11885921 | splice acceptor variant | AAACAG/A | in-del | 0.700 | 0 | ||||||||
|
12 | 0.769 | 0.071 | 12 | 6019472 | missense variant | C/G,T | snp | 4.0E-06 | 0.030 | 1.000 | 3 | 2010 | 2018 | ||||
|
9 | 0.784 | 0.071 | X | 48792337 | missense variant | G/A | snp | 0.020 | 1.000 | 2 | 2000 | 2012 | |||||
|
1 | 10 | 118867050 | intergenic variant | A/G | snp | 0.53 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||||
|
2 | 1.000 | 0.036 | 7 | 25123996 | missense variant | C/T | snp | 0.010 | 1.000 | 1 | 2014 | 2014 | |||||
|
3 | 0.923 | 0.036 | 11 | 59457412 | missense variant | G/A,C | snp | 7.2E-05; 0.26 | 6.4E-05; 0.23 | 0.010 | 1.000 | 1 | 2016 | 2016 | |||
|
2 | 1.000 | 0.071 | 9 | 133458053 | missense variant | A/G | snp | 0.010 | 1.000 | 1 | 2010 | 2010 | |||||
|
3 | 0.923 | 0.036 | 3 | 119782192 | 5 prime UTR variant | C/A | snp | 0.50 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
1 | 3 | 119780660 | 5 prime UTR variant | T/C | snp | 0.48 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||||
|
4 | 0.878 | 0.107 | 1 | 11788011 | missense variant | G/C | snp | 0.10 | 0.10 | 0.010 | 1.000 | 1 | 2015 | 2015 | |||
|
49 | 0.599 | 0.607 | 1 | 11794419 | missense variant | T/G | snp | 0.29 | 0.26 | 0.010 | 1.000 | 1 | 2015 | 2015 | |||
|
86 | 0.533 | 0.714 | 1 | 11796321 | missense variant | G/A | snp | 0.31 | 0.26 | 0.010 | 1.000 | 1 | 2015 | 2015 | |||
|
29 | 0.642 | 0.464 | 4 | 88131171 | missense variant | G/C,T | snp | 4.0E-06; 0.12 | 9.4E-02 | 0.010 | 1.000 | 1 | 2016 | 2016 | |||
|
3 | 0.923 | 0.107 | 13 | 95206781 | missense variant | C/A | snp | 9.7E-02 | 0.10 | 0.010 | 1.000 | 1 | 2009 | 2009 | |||
|
8 | 0.784 | 0.250 | 19 | 7747650 | regulatory region variant | A/G | snp | 0.65 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
1 | X | 154354390 | missense variant | C/T | snp | 3.3E-05 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||||
|
4 | 0.923 | 0.036 | 3 | 119781188 | 5 prime UTR variant | C/T | snp | 0.35 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
169 | 0.457 | 0.714 | 1 | 11794407 | missense variant | T/G | snp | 0.010 | 1.000 | 1 | 2009 | 2009 | |||||
|
2 | 12 | 20858546 | missense variant | T/C,G | snp | 0.81 | 0.70 | 0.010 | 1.000 | 1 | 2016 | 2016 | |||||
|
6 | 0.878 | 0.286 | 11 | 4074620 | stop gained | C/T | snp | 0.010 | 1.000 | 1 | 2014 | 2014 | |||||
|
4 | 0.878 | 0.143 | 17 | 78364457 | intron variant | A/G | snp | 0.53 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
1 | 11 | 36503205 | intron variant | A/G | snp | 0.78 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||||
|
1 | 11 | 36493896 | intron variant | A/G | snp | 0.12 | 0.010 | 1.000 | 1 | 2012 | 2012 |