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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
4 | 2 | 46133768 | intron variant | G/C | snv | 0.36 | 0.800 | 1.000 | 3 | 2009 | 2018 | ||||||
|
17 | 0.807 | 0.280 | 12 | 111634620 | intergenic variant | A/G | snv | 0.29 | 0.800 | 1.000 | 2 | 2009 | 2017 | ||||
|
262 | 0.435 | 0.880 | 6 | 26092913 | missense variant | G/A | snv | 3.3E-02 | 3.8E-02 | 0.800 | 1.000 | 2 | 2009 | 2017 | |||
|
6 | 22 | 37074184 | intron variant | T/C | snv | 0.61 | 0.800 | 1.000 | 2 | 2009 | 2017 | ||||||
|
12 | 0.925 | 0.080 | 7 | 151717955 | intron variant | A/G | snv | 0.31 | 0.800 | 1.000 | 1 | 2009 | 2009 | ||||
|
4 | 10 | 69333636 | intron variant | C/T | snv | 0.12 | 0.800 | 1.000 | 1 | 2009 | 2009 | ||||||
|
14 | 0.851 | 0.120 | 7 | 100638347 | intron variant | C/A | snv | 0.65 | 0.800 | 1.000 | 1 | 2009 | 2009 | ||||
|
4 | 6 | 135114363 | intergenic variant | T/C | snv | 0.19 | 0.800 | 1.000 | 1 | 2009 | 2009 | ||||||
|
24 | 0.827 | 0.200 | 9 | 133279294 | upstream gene variant | T/G | snv | 0.81 | 0.700 | 1.000 | 2 | 2010 | 2017 | ||||
|
14 | 1.000 | 0.080 | 6 | 135097497 | intron variant | C/T | snv | 6.9E-02 | 0.800 | 1.000 | 2 | 2010 | 2012 | ||||
|
5 | 2 | 46127912 | intron variant | A/C | snv | 0.43 | 0.700 | 1.000 | 2 | 2012 | 2017 | ||||||
|
2 | 21 | 33982222 | downstream gene variant | T/C | snv | 0.86 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||||
|
2 | 12 | 2414189 | intron variant | A/G | snv | 0.34 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||||
|
5 | 2 | 46128709 | intron variant | C/A | snv | 0.10 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||||
|
4 | 11 | 5281833 | intron variant | G/A;T | snv | 4.2E-02 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||||
|
4 | X | 154536448 | intron variant | C/T | snv | 4.7E-02 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||||
|
9 | 1.000 | 0.040 | 7 | 151716108 | intron variant | T/C | snv | 0.21 | 0.700 | 1.000 | 2 | 2016 | 2017 | ||||
|
3 | 6 | 44062274 | non coding transcript exon variant | A/G | snv | 0.92 | 0.700 | 1.000 | 2 | 2016 | 2018 | ||||||
|
2 | 4 | 76492991 | intron variant | T/A;C | snv | 0.35 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||||
|
2 | 1.000 | 0.080 | 3 | 52506757 | synonymous variant | T/C | snv | 0.53 | 0.59 | 0.700 | 1.000 | 1 | 2016 | 2016 | |||
|
25 | 0.776 | 0.240 | 19 | 19296909 | intron variant | T/C | snv | 0.10 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||
|
5 | 2 | 46126027 | intron variant | A/G | snv | 0.36 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||||
|
1 | 3 | 169450583 | intron variant | AAA/-;A;AA;AAAA;AAAAA | delins | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||||
|
3 | 9 | 133252613 | non coding transcript exon variant | G/C | snv | 0.11 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||||
|
2 | 11 | 47866484 | intergenic variant | A/C;G;T | snv | 0.700 | 1.000 | 1 | 2016 | 2016 |