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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
1 | 10 | 104265109 | intron variant | T/C | snv | 0.23 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||||
|
1 | 17 | 50353660 | missense variant | G/A | snv | 9.3E-03 | 1.0E-02 | 0.010 | 1.000 | 1 | 2006 | 2006 | |||||
|
1 | 16 | 68788438 | intron variant | C/G | snv | 0.25 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||||
|
1 | 14 | 20472910 | non coding transcript exon variant | A/G;T | snv | 0.010 | 1.000 | 1 | 2018 | 2018 | |||||||
|
1 | 16 | 68739957 | intron variant | C/G;T | snv | 0.010 | 1.000 | 1 | 2012 | 2012 | |||||||
|
1 | 16 | 68740009 | intron variant | C/T | snv | 0.80 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||||
|
1 | 16 | 68730609 | intergenic variant | C/A;G;T | snv | 0.010 | 1.000 | 1 | 2012 | 2012 | |||||||
|
2 | 10 | 102863821 | 3 prime UTR variant | C/T | snv | 0.21 | 0.020 | 1.000 | 2 | 2012 | 2016 | ||||||
|
2 | 1.000 | 0.080 | 18 | 662103 | intron variant | G/A | snv | 0.50 | 0.55 | 0.010 | 1.000 | 1 | 2018 | 2018 | |||
|
2 | 19 | 55000864 | missense variant | C/A | snv | 0.37 | 0.39 | 0.010 | 1.000 | 1 | 2013 | 2013 | |||||
|
2 | 1.000 | 0.080 | 11 | 72190447 | 5 prime UTR variant | G/A | snv | 3.8E-02 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
2 | 1.000 | 0.080 | 17 | 17582270 | 5 prime UTR variant | G/A | snv | 5.4E-02 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
2 | 1.000 | 0.160 | 9 | 97689592 | stop gained | C/A;G;T | snv | 1.2E-05; 5.6E-05 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
2 | 1.000 | 0.080 | 17 | 17522317 | missense variant | C/A;G;T | snv | 8.0E-06; 0.34 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
3 | 1.000 | 0.080 | 10 | 104278136 | intron variant | T/C | snv | 0.45 | 0.53 | 0.010 | 1.000 | 1 | 2018 | 2018 | |||
|
3 | 0.925 | 0.120 | 5 | 80654962 | missense variant | A/G;T | snv | 0.86 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
3 | 21 | 46152973 | missense variant | C/T | snv | 5.7E-02 | 5.6E-02 | 0.010 | 1.000 | 1 | 2019 | 2019 | |||||
|
3 | 0.925 | 0.200 | 7 | 92241059 | stop gained | G/A | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2007 | 2007 | ||||
|
3 | 0.925 | 0.040 | 6 | 31356368 | missense variant | A/C;G;T | snv | 0.12; 7.9E-05; 3.8E-04 | 0.010 | < 0.001 | 1 | 2018 | 2018 | ||||
|
4 | 1.000 | 0.080 | 10 | 132645884 | missense variant | A/G | snv | 0.22 | 0.18 | 0.010 | 1.000 | 1 | 2015 | 2015 | |||
|
4 | 0.882 | 0.280 | 17 | 50360095 | missense variant | C/G;T | snv | 0.33; 3.2E-05 | 0.010 | 1.000 | 1 | 2006 | 2006 | ||||
|
6 | 0.851 | 0.120 | 10 | 102878966 | missense variant | T/A;C | snv | 9.2E-02 | 0.010 | 1.000 | 1 | 2009 | 2009 | ||||
|
6 | 0.827 | 0.200 | 1 | 206768519 | 3 prime UTR variant | A/G | snv | 0.43 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
6 | 0.827 | 0.400 | 2 | 60892336 | intron variant | G/A | snv | 0.62 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
11 | 0.752 | 0.320 | 10 | 104274733 | 5 prime UTR variant | A/G | snv | 0.22 | 0.010 | 1.000 | 1 | 2018 | 2018 |