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 | 7 | 29316787 | intron variant | G/A | snv | 0.12 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||||
|
2 | 10 | 60167108 | intron variant | C/A | snv | 0.56 | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||||
|
1 | 12 | 40232341 | missense variant | C/T | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||||
|
1 | 20 | 4699738 | missense variant | A/G | snv | 4.0E-06 | 7.0E-06 | 0.010 | 1.000 | 1 | 2019 | 2019 | |||||
|
1 | 20 | 4684616 | intron variant | A/G;T | snv | 0.700 | 1.000 | 1 | 2012 | 2012 | |||||||
|
1 | 20 | 4664427 | intron variant | G/A;C | snv | 0.700 | 1.000 | 1 | 2012 | 2012 | |||||||
|
1 | 20 | 4704015 | downstream gene variant | T/C | snv | 0.23 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||||
|
1 | 20 | 4699797 | missense variant | A/G | snv | 1.2E-05 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||||
|
1 | 20 | 4699821 | missense variant | A/T | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||||
|
1 | 20 | 4699816 | missense variant | C/A | snv | 0.010 | 1.000 | 1 | 2019 | 2019 | |||||||
|
4 | 1.000 | 20 | 4699698 | stop gained | C/T | snv | 0.700 | 0 | |||||||||
|
3 | 0.925 | 0.040 | 20 | 4699655 | stop gained | T/G | snv | 0.730 | 1.000 | 3 | 2011 | 2019 | |||||
|
2 | 1.000 | 0.040 | 10 | 60635760 | intron variant | G/A | snv | 0.11 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||
|
3 | 1.000 | 0.040 | 12 | 122811747 | intron variant | G/A | snv | 0.39 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||
|
2 | 1.000 | 0.040 | 12 | 40034759 | intron variant | G/A;T | snv | 0.700 | 1.000 | 1 | 2012 | 2012 | |||||
|
2 | 1.000 | 0.040 | 4 | 15736314 | intron variant | A/G | snv | 0.24 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||
|
3 | 0.925 | 0.040 | 1 | 205783537 | non coding transcript exon variant | A/G | snv | 0.64 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||
|
2 | 1.000 | 0.080 | 20 | 4699600 | missense variant | G/T | snv | 4.0E-06 | 0.030 | 1.000 | 3 | 2017 | 2020 | ||||
|
4 | 0.882 | 0.080 | 7 | 143412046 | intron variant | T/C | snv | 0.18 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||
|
2 | 1.000 | 0.080 | 1 | 202421786 | intron variant | C/T | snv | 3.5E-05 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||
|
4 | 0.882 | 0.080 | 4 | 89757390 | intron variant | G/A;T | snv | 0.700 | 1.000 | 1 | 2012 | 2012 | |||||
|
3 | 0.925 | 0.080 | 19 | 45205630 | intron variant | T/A;C;G | snv | 0.700 | 1.000 | 1 | 2012 | 2012 | |||||
|
5 | 0.851 | 0.080 | 11 | 60171834 | downstream gene variant | T/G | snv | 0.57 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||
|
3 | 0.925 | 0.080 | 11 | 60204322 | intron variant | G/A;T | snv | 0.700 | 1.000 | 1 | 2012 | 2012 | |||||
|
2 | 1.000 | 0.080 | 6 | 47485642 | intron variant | G/C | snv | 0.23 | 0.700 | 1.000 | 1 | 2012 | 2012 |