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 | 0.040 | 9 | 25233486 | intergenic variant | G/A | snv | 0.32 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
4 | 0.882 | 0.040 | 1 | 106793679 | regulatory region variant | G/A;T | snv | 0.010 | 1.000 | 1 | 2019 | 2019 | |||||
|
1 | 10 | 75232686 | downstream gene variant | C/G;T | snv | 0.010 | 1.000 | 1 | 2016 | 2016 | |||||||
|
1 | 20 | 51943113 | intergenic variant | T/C | snv | 0.63 | 0.800 | 1.000 | 1 | 2010 | 2010 | ||||||
|
1 | 9 | 4459274 | intergenic variant | G/A | snv | 0.55 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||||
|
3 | 0.925 | 0.040 | 6 | 29521271 | intergenic variant | G/A | snv | 0.41 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
11 | 0.882 | 0.200 | 17 | 7634474 | downstream gene variant | T/C | snv | 0.55 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
1 | 3 | 95969999 | intergenic variant | A/G;T | snv | 0.19 | 0.800 | 1.000 | 1 | 2010 | 2010 | ||||||
|
214 | 0.456 | 0.840 | 7 | 87509329 | synonymous variant | A/G;T | snv | 0.50 | 0.010 | 1.000 | 1 | 2010 | 2010 | ||||
|
34 | 0.653 | 0.600 | 7 | 17339486 | missense variant | G/A | snv | 0.15 | 0.22 | 0.040 | 0.750 | 4 | 2004 | 2019 | |||
|
1 | 7 | 17305990 | intron variant | A/G | snv | 0.27 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||||
|
7 | 0.827 | 0.240 | 5 | 422840 | missense variant | C/G;T | snv | 0.38; 4.0E-06 | 0.020 | 1.000 | 2 | 2004 | 2019 | ||||
|
4 | 0.882 | 0.160 | 14 | 96486941 | missense variant | T/C;G | snv | 1.5E-03 | 1.4E-03 | 0.010 | 1.000 | 1 | 2018 | 2018 | |||
|
2 | 1.000 | 0.160 | X | 67685960 | missense variant | C/T | snv | 5.5E-06 | 9.5E-06 | 0.010 | 1.000 | 1 | 2008 | 2008 | |||
|
3 | 0.925 | 0.160 | X | 67643283 | missense variant | G/A;T | snv | 1.8E-04 | 0.010 | 1.000 | 1 | 2008 | 2008 | ||||
|
3 | 1.000 | 0.160 | X | 67717574 | missense variant | A/G;T | snv | 2.2E-05; 5.5E-06 | 0.010 | 1.000 | 1 | 2001 | 2001 | ||||
|
2 | 1.000 | 0.160 | X | 67546570 | missense variant | C/T | snv | 1.5E-03 | 1.1E-03 | 0.010 | 1.000 | 1 | 2008 | 2008 | |||
|
1 | 11 | 108259068 | missense variant | A/G | snv | 7.0E-06 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||||
|
1 | 2 | 197756444 | missense variant | T/C | snv | 8.0E-06 | 7.0E-06 | 0.010 | 1.000 | 1 | 2004 | 2004 | |||||
|
1 | 2 | 197743089 | missense variant | G/A;C | snv | 4.1E-05; 4.1E-06 | 0.010 | 1.000 | 1 | 2004 | 2004 | ||||||
|
29 | 0.653 | 0.440 | 13 | 32332592 | missense variant | A/C | snv | 0.28 | 0.23 | 0.010 | 1.000 | 1 | 2006 | 2006 | |||
|
4 | 0.882 | 0.120 | 6 | 32977847 | missense variant | G/A | snv | 0.020 | 0.500 | 2 | 2011 | 2015 | |||||
|
1 | 6 | 87085541 | 3 prime UTR variant | A/T | snv | 0.40 | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||||
|
2 | 1.000 | 0.040 | X | 106928709 | missense variant | G/C | snv | 0.700 | 0 | ||||||||
|
1 | 4 | 55509814 | intron variant | A/C | snv | 0.69 | 0.010 | 1.000 | 1 | 2015 | 2015 |