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 | 6 | 117694118 | stop gained | T/C;G | snv | 8.8E-05 | 8.4E-05 | 0.010 | 1.000 | 1 | 2013 | 2013 | |||||
|
1 | 2 | 203874215 | downstream gene variant | G/A | snv | 0.17 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||||
|
1 | 3 | 138694820 | stop gained | G/A | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||||
|
1 | 1 | 64827766 | intron variant | A/G;T | snv | 0.62 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||||
|
1 | 1 | 150827279 | intron variant | C/T | snv | 0.42 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||||
|
1 | 1 | 64833108 | 3 prime UTR variant | A/T | snv | 0.52 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||||
|
1 | 19 | 10359243 | missense variant | G/A;C | snv | 7.2E-03; 4.1E-06 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||||
|
1 | 21 | 17449955 | non coding transcript exon variant | A/G | snv | 0.34 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||||
|
1 | 1 | 9720754 | missense variant | C/T | snv | 3.3E-05 | 3.5E-05 | 0.010 | 1.000 | 1 | 2018 | 2018 | |||||
|
1 | 19 | 18168775 | missense variant | C/T | snv | 4.1E-06 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||||
|
1 | 1 | 157697767 | missense variant | C/T | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2006 | 2006 | ||||||
|
1 | 16 | 3656184 | missense variant | A/G | snv | 1.0E-03 | 4.0E-03 | 0.010 | 1.000 | 1 | 2019 | 2019 | |||||
|
1 | Y | 18992540 | non coding transcript exon variant | G/A | snv | 0.010 | 1.000 | 1 | 2015 | 2015 | |||||||
|
2 | 5 | 56264200 | upstream gene variant | T/G | snv | 0.34 | 0.800 | 1.000 | 1 | 2011 | 2011 | ||||||
|
2 | 18 | 12747013 | intron variant | C/T | snv | 0.15 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||||
|
2 | 1 | 2593476 | intron variant | G/T | snv | 0.41 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||||
|
2 | 11 | 118771376 | intron variant | A/C | snv | 0.17 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||||
|
2 | 2 | 203764087 | downstream gene variant | G/A;C | snv | 0.700 | 1.000 | 1 | 2011 | 2011 | |||||||
|
2 | 11 | 11114248 | intron variant | T/C | snv | 0.15 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||||
|
2 | 1.000 | 0.080 | 1 | 150869191 | intron variant | T/C | snv | 0.41 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
2 | 1.000 | 0.080 | 3 | 46304120 | intergenic variant | G/A | snv | 0.73 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
2 | 2 | 65379519 | intron variant | T/C | snv | 0.49 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||||
|
2 | 7 | 37397251 | intron variant | A/G | snv | 0.14 | 0.800 | 1.000 | 1 | 2011 | 2011 | ||||||
|
2 | 1.000 | 0.080 | 8 | 63477322 | non coding transcript exon variant | A/G;T | snv | 0.010 | < 0.001 | 1 | 2012 | 2012 | |||||
|
2 | 1 | 2607299 | intron variant | C/T | snv | 0.11 | 0.700 | 1.000 | 1 | 2011 | 2011 |