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 | 0.160 | 3 | 41719403 | intron variant | T/C | snv | 0.33 | 0.700 | 1.000 | 2 | 2011 | 2013 | ||||
|
1 | 1.000 | 0.160 | 7 | 21902051 | 3 prime UTR variant | A/C | snv | 0.34 | 0.700 | 1.000 | 2 | 2011 | 2013 | ||||
|
64 | 0.564 | 0.760 | 7 | 87550285 | synonymous variant | A/G | snv | 0.54 | 0.63 | 0.020 | 1.000 | 2 | 2011 | 2017 | |||
|
1 | 1.000 | 0.160 | 7 | 21909685 | intron variant | C/T | snv | 0.49 | 0.700 | 1.000 | 2 | 2011 | 2013 | ||||
|
1 | 1.000 | 0.160 | 7 | 21892426 | missense variant | C/G;T | snv | 1.8E-04; 0.39 | 0.700 | 1.000 | 2 | 2011 | 2013 | ||||
|
1 | 1.000 | 0.160 | 3 | 41789711 | missense variant | C/A;T | snv | 0.12 | 0.700 | 1.000 | 2 | 2011 | 2013 | ||||
|
1 | 1.000 | 0.160 | 3 | 41855990 | intron variant | G/A | snv | 0.18 | 0.700 | 1.000 | 2 | 2011 | 2013 | ||||
|
1 | 1.000 | 0.160 | 3 | 41821381 | intron variant | A/G | snv | 0.26 | 0.700 | 1.000 | 2 | 2011 | 2013 | ||||
|
1 | 1.000 | 0.160 | 7 | 21875846 | intron variant | G/A;T | snv | 0.700 | 1.000 | 2 | 2011 | 2013 | |||||
|
205 | 0.441 | 0.800 | 19 | 43551574 | missense variant | T/C | snv | 0.68 | 0.71 | 0.020 | 0.500 | 2 | 2011 | 2019 | |||
|
1 | 1.000 | 0.160 | 7 | 21899764 | intron variant | A/G | snv | 0.22 | 0.700 | 1.000 | 2 | 2011 | 2013 | ||||
|
4 | 1.000 | 0.160 | 3 | 41835922 | missense variant | T/C | snv | 0.17 | 0.18 | 0.700 | 1.000 | 2 | 2011 | 2013 | |||
|
11 | 0.763 | 0.360 | 7 | 140753355 | missense variant | C/G;T | snv | 0.710 | 1.000 | 2 | 2011 | 2016 | |||||
|
1 | 1.000 | 0.160 | 7 | 21898370 | intron variant | C/G;T | snv | 0.33 | 0.700 | 1.000 | 2 | 2011 | 2013 | ||||
|
3 | 0.882 | 0.160 | 7 | 21888461 | intron variant | C/A | snv | 0.26 | 0.800 | 1.000 | 2 | 2011 | 2015 | ||||
|
1 | 1.000 | 0.160 | 7 | 21888909 | intron variant | T/C | snv | 0.54 | 0.700 | 1.000 | 2 | 2011 | 2013 | ||||
|
1 | 1.000 | 0.160 | 2 | 25448937 | intron variant | G/A;T | snv | 0.700 | 1.000 | 2 | 2011 | 2013 | |||||
|
1 | 1.000 | 0.160 | 3 | 41950916 | intron variant | G/A | snv | 0.68 | 0.800 | 1.000 | 2 | 2011 | 2016 | ||||
|
4 | 0.851 | 0.160 | 3 | 41709497 | intron variant | T/C | snv | 0.30 | 0.800 | 1.000 | 2 | 2011 | 2017 | ||||
|
1 | 1.000 | 0.160 | 7 | 21890138 | intron variant | T/C | snv | 0.22 | 0.700 | 1.000 | 2 | 2011 | 2013 | ||||
|
3 | 0.882 | 0.160 | 3 | 41786808 | intron variant | A/G | snv | 0.12 | 0.800 | 1.000 | 2 | 2011 | 2015 | ||||
|
2 | 0.925 | 0.200 | 7 | 21901342 | 3 prime UTR variant | A/G | snv | 0.28 | 0.700 | 1.000 | 2 | 2011 | 2013 | ||||
|
1 | 1.000 | 0.160 | 3 | 41852948 | intron variant | T/C | snv | 0.32 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||
|
1 | 1.000 | 0.160 | 3 | 41785534 | intron variant | A/C;G | snv | 0.700 | 1.000 | 1 | 2011 | 2011 | |||||
|
1 | 1.000 | 0.160 | 3 | 41712930 | intron variant | A/T | snv | 0.26 | 0.700 | 1.000 | 1 | 2011 | 2011 |