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 | 169544768 | intron variant | A/G | snv | 0.92 | 0.800 | 1.000 | 2 | 2011 | 2012 | ||||||
|
2 | 1 | 169506814 | intergenic variant | A/G | snv | 0.93 | 0.700 | 1.000 | 2 | 2011 | 2012 | ||||||
|
3 | 10 | 119250744 | intron variant | A/G | snv | 8.8E-02 | 0.700 | 1.000 | 2 | 2019 | 2019 | ||||||
|
2 | 1 | 169528818 | intron variant | A/G | snv | 0.95 | 0.700 | 1.000 | 2 | 2011 | 2012 | ||||||
|
2 | 4 | 186264957 | upstream gene variant | A/G | snv | 0.32 | 0.700 | 1.000 | 2 | 2011 | 2012 | ||||||
|
2 | 1.000 | 0.040 | X | 139551121 | missense variant | A/G | snv | 0.22 | 0.23 | 0.700 | 1.000 | 2 | 2019 | 2019 | |||
|
2 | 1 | 169491488 | non coding transcript exon variant | A/G | snv | 0.92 | 0.700 | 1.000 | 2 | 2011 | 2012 | ||||||
|
15 | 0.752 | 0.120 | 20 | 35176751 | missense variant | A/G | snv | 0.10 | 9.7E-02 | 0.710 | 1.000 | 2 | 2010 | 2019 | |||
|
33 | 0.662 | 0.320 | 6 | 160589086 | intron variant | A/G | snv | 4.3E-02 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
2 | 14 | 91824400 | intron variant | A/G | snv | 0.29 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
1 | 17 | 5819886 | intron variant | A/G | snv | 0.46 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||||
|
1 | 17 | 63490971 | missense variant | A/G | snv | 4.0E-06 | 7.0E-06 | 0.010 | 1.000 | 1 | 2009 | 2009 | |||||
|
1 | 1 | 169825364 | intron variant | A/G | snv | 1.4E-02 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
1 | 8 | 28040935 | intron variant | A/G | snv | 0.40 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
1 | 13 | 102312653 | intron variant | A/G | snv | 0.28 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||||
|
1 | 12 | 65188408 | intron variant | A/G | snv | 4.1E-03 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||||
|
2 | 10 | 19938338 | intron variant | A/G | snv | 0.75 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
1 | 5 | 62689026 | intergenic variant | A/G | snv | 0.19 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||||
|
1 | 12 | 6044572 | intron variant | A/G | snv | 0.40 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
31 | 0.649 | 0.600 | 7 | 101126430 | upstream gene variant | A/G | snv | 0.010 | 1.000 | 1 | 2019 | 2019 | |||||
|
8 | 1.000 | 0.040 | 5 | 177409531 | 5 prime UTR variant | A/G | snv | 0.65 | 0.67 | 0.010 | 1.000 | 1 | 2013 | 2013 | |||
|
135 | 0.496 | 0.800 | 1 | 236885200 | missense variant | A/G | snv | 0.20 | 0.21 | 0.010 | 1.000 | 1 | 2000 | 2000 | |||
|
1 | 11 | 48706704 | intergenic variant | A/G | snv | 8.1E-03 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
1 | 1 | 170621629 | intron variant | A/G | snv | 3.0E-03 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
11 | 0.807 | 0.440 | 13 | 46055809 | missense variant | A/G | snv | 0.74 | 0.77 | 0.010 | 1.000 | 1 | 2016 | 2016 |