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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
43 | 0.620 | 0.720 | 2 | 112785383 | upstream gene variant | G/A;C | snv | 0.32 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
2 | 1.000 | 0.080 | 2 | 60491939 | intron variant | C/G;T | snv | 0.700 | 1.000 | 1 | 2011 | 2011 | |||||
|
2 | 1.000 | 0.080 | 2 | 60496951 | intron variant | T/C | snv | 0.81 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||
|
2 | 1.000 | 0.080 | 2 | 60496952 | intron variant | G/T | snv | 0.80 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||
|
8 | 0.807 | 0.280 | 7 | 80613604 | intron variant | A/G | snv | 0.33 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
1 | 1.000 | 0.080 | 9 | 36882102 | missense variant | C/T | snv | 1.2E-04 | 1.7E-04 | 0.010 | 1.000 | 1 | 2011 | 2011 | |||
|
18 | 0.708 | 0.320 | 22 | 35380679 | intron variant | A/T | snv | 0.49 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
3 | 0.882 | 0.080 | 9 | 107487224 | non coding transcript exon variant | C/T | snv | 0.18 | 0.15 | 0.010 | 1.000 | 1 | 2019 | 2019 | |||
|
1 | 1.000 | 0.080 | 11 | 5008473 | downstream gene variant | C/T | snv | 0.57 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||
|
39 | 0.620 | 0.560 | 5 | 140633331 | intron variant | A/G | snv | 0.57 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
1 | 1.000 | 0.080 | 6 | 135055071 | non coding transcript exon variant | T/C;G | snv | 0.010 | 1.000 | 1 | 2019 | 2019 | |||||
|
3 | 0.882 | 0.160 | 5 | 143376439 | intron variant | A/G | snv | 0.24 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
2 | 0.925 | 0.080 | 13 | 113159911 | intron variant | G/A;T | snv | 0.010 | 1.000 | 1 | 2012 | 2012 | |||||
|
3 | 0.925 | 0.080 | 13 | 113164394 | intron variant | A/C;T | snv | 0.010 | 1.000 | 1 | 2012 | 2012 | |||||
|
2 | 0.925 | 0.080 | 13 | 113165199 | intron variant | G/A | snv | 0.19 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
1 | 1.000 | 0.080 | 4 | 122088578 | upstream gene variant | T/C | snv | 9.9E-03 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||
|
3 | 0.882 | 0.080 | 8 | 102649991 | 3 prime UTR variant | G/A | snv | 0.31 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
23 | 0.667 | 0.520 | 3 | 46373453 | frameshift variant | GTCAGTATCAATTCTGGAAGAATTTCCAGACA/- | delins | 7.3E-02 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
4 | 0.882 | 0.280 | 5 | 143320934 | intron variant | C/G;T | snv | 0.010 | 1.000 | 1 | 2018 | 2018 | |||||
|
35 | 0.724 | 0.240 | 11 | 5227002 | missense variant | T/A;C;G | snv | 3.5E-03 | 0.850 | 1.000 | 12 | 1957 | 2018 | ||||
|
2 | 0.925 | 0.080 | 11 | 5225728 | splice acceptor variant | T/C;G | snv | 8.0E-06 | 0.700 | 0 | |||||||
|
11 | 0.752 | 0.080 | 11 | 5226925 | splice region variant | C/A;G;T | snv | 4.0E-06; 5.9E-04; 4.0E-06 | 0.700 | 0 | |||||||
|
4 | 0.882 | 0.080 | 11 | 5226762 | stop gained | C/A;G;T | snv | 2.8E-04; 4.0E-06 | 0.700 | 0 | |||||||
|
5 | 0.882 | 0.120 | 11 | 5227003 | missense variant | C/G;T | snv | 9.2E-04; 4.4E-05 | 0.700 | 0 | |||||||
|
6 | 0.807 | 0.280 | 11 | 5227099 | 5 prime UTR variant | T/C;G | snv | 0.700 | 0 |