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 | 0.080 | 3 | 100004736 | intron variant | G/T | snv | 0.18 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||
|
2 | 0.925 | 0.080 | 14 | 100031649 | intron variant | T/C | snv | 0.61 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
1 | 1.000 | 0.080 | 3 | 100105841 | intron variant | G/A | snv | 0.18 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||
|
1 | 1.000 | 0.080 | 15 | 100366889 | intergenic variant | G/A | snv | 0.700 | 1.000 | 1 | 2017 | 2017 | |||||
|
2 | 0.925 | 0.080 | 14 | 100376562 | 5 prime UTR variant | G/A | snv | 0.33 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
1 | 1.000 | 0.080 | 1 | 100414772 | intron variant | A/T | snv | 0.38 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||
|
2 | 0.925 | 0.080 | 10 | 100553850 | 3 prime UTR variant | A/G | snv | 0.22 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
3 | 0.925 | 0.080 | 10 | 100635683 | intergenic variant | T/C | snv | 0.17 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
18 | 0.708 | 0.320 | 2 | 100840527 | intron variant | G/A | snv | 0.16 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
18 | 0.708 | 0.320 | 2 | 100843581 | intron variant | T/C | snv | 8.3E-02 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
1 | 1.000 | 0.080 | 7 | 100856990 | missense variant | C/T | snv | 2.0E-05 | 2.1E-05 | 0.010 | 1.000 | 1 | 1996 | 1996 | |||
|
4 | 0.851 | 0.120 | 2 | 100889540 | intron variant | T/C | snv | 0.34 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
23 | 0.689 | 0.320 | 2 | 100961475 | intron variant | G/A | snv | 0.35 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
18 | 0.708 | 0.320 | 2 | 100964784 | intron variant | C/T | snv | 0.92 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
9 | 0.776 | 0.200 | 2 | 100974842 | missense variant | A/G | snv | 0.71 | 0.75 | 0.040 | 1.000 | 4 | 2008 | 2012 | |||
|
32 | 0.641 | 0.520 | 10 | 100975021 | mature miRNA variant | C/G | snv | 0.27 | 0.27 | 0.050 | 0.600 | 5 | 2012 | 2018 | |||
|
4 | 0.851 | 0.120 | 2 | 100977729 | missense variant | C/T | snv | 0.14 | 0.14 | 0.010 | 1.000 | 1 | 2008 | 2008 | |||
|
2 | 0.925 | 0.080 | 2 | 100996106 | 3 prime UTR variant | C/T | snv | 0.24 | 0.010 | < 0.001 | 1 | 2011 | 2011 | ||||
|
3 | 0.882 | 0.120 | 11 | 101039260 | synonymous variant | T/C | snv | 0.24 | 0.29 | 0.010 | 1.000 | 1 | 2008 | 2008 | |||
|
2 | 0.925 | 0.080 | 11 | 101039579 | intron variant | A/T | snv | 0.11 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
1 | 1.000 | 0.080 | 5 | 101043689 | intergenic variant | C/G;T | snv | 0.700 | 1.000 | 1 | 2014 | 2014 | |||||
|
2 | 0.925 | 0.080 | 11 | 101051471 | synonymous variant | G/A | snv | 0.13 | 0.11 | 0.010 | 1.000 | 1 | 2008 | 2008 | |||
|
2 | 0.925 | 0.080 | 14 | 101056219 | non coding transcript exon variant | T/A;C | snv | 4.0E-06; 0.28 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
12 | 0.742 | 0.240 | 11 | 101062681 | missense variant | C/A;G | snv | 0.13; 4.0E-06 | 0.060 | 0.667 | 6 | 2002 | 2020 | ||||
|
2 | 0.925 | 0.080 | 11 | 101105243 | intron variant | C/G | snv | 0.47 | 0.020 | 1.000 | 2 | 2013 | 2020 |