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 | 1.000 | 0.040 | 10 | 122429681 | missense variant | A/G | snv | 0.68 | 0.69 | 0.730 | 0.750 | 4 | 2013 | 2018 | |||
|
1 | 1.000 | 0.040 | 1 | 196691131 | intron variant | A/G | snv | 0.64 | 0.800 | 1.000 | 4 | 2011 | 2013 | ||||
|
1 | 1.000 | 0.040 | 6 | 31933767 | missense variant | G/A | snv | 1.2E-05 | 7.0E-06 | 0.040 | 1.000 | 4 | 2006 | 2010 | |||
|
1 | 1.000 | 0.040 | 1 | 196912470 | intron variant | G/C;T | snv | 0.710 | 1.000 | 4 | 2010 | 2013 | |||||
|
1 | 1.000 | 0.040 | 1 | 196972363 | downstream gene variant | T/C | snv | 0.62 | 0.710 | 1.000 | 4 | 2011 | 2013 | ||||
|
1 | 1.000 | 0.040 | 14 | 68318360 | intron variant | G/A | snv | 0.54 | 0.830 | 1.000 | 4 | 2013 | 2019 | ||||
|
1 | 1.000 | 0.040 | 1 | 196707805 | intron variant | A/C;T | snv | 0.800 | 1.000 | 3 | 2013 | 2018 | |||||
|
1 | 1.000 | 0.040 | 1 | 197009485 | 3 prime UTR variant | T/G | snv | 0.38 | 0.710 | 1.000 | 3 | 2010 | 2013 | ||||
|
1 | 1.000 | 0.040 | 1 | 93998061 | missense variant | C/T | snv | 1.1E-02 | 1.0E-02 | 0.030 | 0.667 | 3 | 2000 | 2015 | |||
|
1 | 1.000 | 0.040 | 22 | 32688525 | intron variant | A/C | snv | 0.700 | 1.000 | 3 | 2010 | 2011 | |||||
|
1 | 1.000 | 0.040 | 1 | 196705584 | intron variant | T/A | snv | 0.24 | 0.700 | 1.000 | 3 | 2010 | 2013 | ||||
|
1 | 1.000 | 0.040 | 1 | 196715495 | intron variant | G/T | snv | 0.65 | 0.710 | 1.000 | 3 | 2010 | 2015 | ||||
|
1 | 1.000 | 0.040 | 10 | 122475839 | intron variant | G/C;T | snv | 0.710 | 1.000 | 3 | 2010 | 2013 | |||||
|
1 | 1.000 | 0.040 | 10 | 122455799 | intron variant | T/G | snv | 0.23 | 0.810 | 1.000 | 3 | 2010 | 2013 | ||||
|
1 | 1.000 | 0.040 | 1 | 196672942 | intron variant | C/T | snv | 0.31 | 0.40 | 0.030 | 1.000 | 3 | 2008 | 2018 | |||
|
1 | 1.000 | 0.040 | 1 | 196706441 | intron variant | A/G | snv | 0.62 | 0.700 | 1.000 | 3 | 2011 | 2013 | ||||
|
1 | 1.000 | 0.040 | 13 | 31245188 | intron variant | T/C | snv | 0.34 | 0.820 | 0.667 | 3 | 2013 | 2019 | ||||
|
1 | 1.000 | 0.040 | 1 | 196685194 | synonymous variant | A/C | snv | 0.68 | 0.62 | 0.810 | 1.000 | 2 | 2007 | 2013 | |||
|
1 | 1.000 | 0.040 | 1 | 196544564 | intron variant | G/A | snv | 0.30 | 0.700 | 1.000 | 2 | 2013 | 2013 | ||||
|
1 | 1.000 | 0.040 | 1 | 196993876 | intron variant | T/A | snv | 0.38 | 0.700 | 1.000 | 2 | 2010 | 2013 | ||||
|
1 | 1.000 | 0.040 | 3 | 99762695 | intron variant | G/T | snv | 8.0E-02 | 0.810 | 1.000 | 2 | 2013 | 2019 | ||||
|
1 | 1.000 | 0.040 | 1 | 196677046 | non coding transcript exon variant | T/G | snv | 0.66 | 0.800 | 1.000 | 2 | 2010 | 2013 | ||||
|
1 | 1.000 | 0.040 | 1 | 197015549 | intergenic variant | A/G;T | snv | 0.700 | 1.000 | 2 | 2011 | 2013 | |||||
|
1 | 1.000 | 0.040 | 1 | 196600551 | intron variant | C/T | snv | 0.27 | 0.700 | 1.000 | 2 | 2013 | 2013 | ||||
|
1 | 1.000 | 0.040 | 1 | 196916214 | intron variant | C/G | snv | 0.21 | 0.700 | 1.000 | 2 | 2010 | 2013 |