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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
38 | 0.683 | 0.480 | 7 | 21600085 | missense variant | G/A;T | snv | 4.3E-06 | 0.700 | 0 | |||||||
|
38 | 0.683 | 0.480 | 7 | 21710596 | stop gained | C/T | snv | 8.5E-05 | 8.4E-05 | 0.700 | 0 | ||||||
|
37 | 0.627 | 0.560 | 5 | 132657117 | non coding transcript exon variant | C/G;T | snv | 0.020 | 1.000 | 2 | 2008 | 2010 | |||||
|
2 | 0.925 | 0.160 | 10 | 8074635 | 3 prime UTR variant | G/A | snv | 0.81 | 0.010 | 1.000 | 1 | 2008 | 2008 | ||||
|
2 | 0.925 | 0.160 | 1 | 60890848 | intron variant | G/A;T | snv | 0.010 | 1.000 | 1 | 2014 | 2014 | |||||
|
2 | 0.925 | 0.160 | 18 | 75286334 | synonymous variant | C/T | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2006 | 2006 | ||||
|
188 | 0.457 | 0.880 | 11 | 67585218 | missense variant | A/G | snv | 0.34 | 0.36 | 0.010 | 1.000 | 1 | 2018 | 2018 | |||
|
246 | 0.430 | 0.880 | 7 | 150999023 | missense variant | T/A;G | snv | 0.75 | 0.010 | 1.000 | 1 | 2008 | 2008 | ||||
|
22 | 0.683 | 0.520 | 16 | 27362859 | missense variant | T/C | snv | 0.16 | 0.22 | 0.010 | 1.000 | 1 | 2018 | 2018 | |||
|
52 | 0.585 | 0.720 | 5 | 132660272 | missense variant | A/G | snv | 0.72 | 0.77 | 0.010 | 1.000 | 1 | 2018 | 2018 | |||
|
4 | 0.851 | 0.200 | 15 | 50242317 | missense variant | T/G | snv | 3.4E-02 | 5.9E-02 | 0.010 | 1.000 | 1 | 2010 | 2010 | |||
|
3 | 0.925 | 0.160 | 7 | 134450869 | missense variant | T/C | snv | 1.3E-02 | 1.0E-02 | 0.010 | 1.000 | 1 | 2018 | 2018 | |||
|
105 | 0.514 | 0.760 | 6 | 52186235 | upstream gene variant | G/A | snv | 0.28 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
4 | 0.851 | 0.240 | X | 78272820 | missense variant | G/A;C;T | snv | 0.73 | 0.010 | 1.000 | 1 | 2006 | 2006 | ||||
|
12 | 0.742 | 0.360 | 12 | 57108399 | intron variant | C/T | snv | 0.32 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
2 | 0.925 | 0.160 | 10 | 8083856 | intergenic variant | G/A | snv | 0.18 | 0.010 | 1.000 | 1 | 2008 | 2008 | ||||
|
12 | 0.752 | 0.240 | 10 | 8047173 | intron variant | T/G | snv | 0.70 | 0.010 | 1.000 | 1 | 2008 | 2008 | ||||
|
6 | 0.851 | 0.160 | 17 | 39932164 | intron variant | T/A;C | snv | 0.010 | 1.000 | 1 | 2013 | 2013 | |||||
|
6 | 0.807 | 0.360 | 12 | 117268082 | synonymous variant | C/A;T | snv | 4.0E-06; 5.6E-05 | 0.010 | 1.000 | 1 | 2008 | 2008 | ||||
|
3 | 0.925 | 0.160 | 19 | 3586545 | synonymous variant | G/A | snv | 4.0E-06; 0.14 | 0.24 | 0.010 | 1.000 | 1 | 2012 | 2012 |