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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
15 | 0.763 | 0.280 | 10 | 46046326 | 5 prime UTR variant | A/G | snv | 0.54 | 0.800 | 1.000 | 3 | 2010 | 2017 | ||||
|
7 | 0.827 | 0.160 | 19 | 50861367 | upstream gene variant | A/C;G | snv | 0.800 | 1.000 | 3 | 2010 | 2018 | |||||
|
3 | 0.925 | 0.080 | 19 | 50860142 | 3 prime UTR variant | C/T | snv | 0.75 | 0.74 | 0.800 | 1.000 | 2 | 2010 | 2014 | |||
|
3 | 0.925 | 0.080 | 12 | 114656455 | downstream gene variant | A/G | snv | 0.37 | 0.800 | 1.000 | 2 | 2010 | 2017 | ||||
|
5 | 0.925 | 0.080 | 19 | 50858501 | missense variant | T/C | snv | 5.5E-02 | 4.9E-02 | 0.800 | 1.000 | 2 | 2010 | 2017 | |||
|
4 | 0.925 | 0.080 | 19 | 50845834 | intron variant | G/A | snv | 0.82 | 0.800 | 1.000 | 2 | 2010 | 2017 | ||||
|
2 | 10 | 121274035 | intergenic variant | G/A | snv | 0.19 | 0.800 | 1.000 | 1 | 2010 | 2010 | ||||||
|
1 | 19 | 50868163 | intron variant | A/G | snv | 0.53 | 0.700 | 1.000 | 1 | 2010 | 2010 | ||||||
|
2 | 1.000 | 0.080 | 19 | 50848678 | intron variant | T/C | snv | 0.43 | 0.700 | 1.000 | 1 | 2010 | 2010 | ||||
|
48 | 0.600 | 0.600 | 5 | 1293971 | synonymous variant | C/T | snv | 0.29 | 0.22 | 0.700 | 1.000 | 1 | 2010 | 2010 | |||
|
3 | 0.925 | 0.160 | 17 | 37730894 | non coding transcript exon variant | A/G | snv | 0.30 | 0.700 | 1.000 | 1 | 2010 | 2010 | ||||
|
42 | 0.620 | 0.640 | 5 | 1321972 | intron variant | C/T | snv | 0.48 | 0.800 | 1.000 | 1 | 2010 | 2010 | ||||
|
14 | 0.790 | 0.280 | 17 | 37738049 | intron variant | A/G | snv | 0.52 | 0.800 | 1.000 | 1 | 2010 | 2010 | ||||
|
12 | 0.776 | 0.280 | 17 | 37741165 | intron variant | C/T | snv | 0.41 | 0.700 | 1.000 | 1 | 2010 | 2010 | ||||
|
1 | 12 | 14389607 | intron variant | A/G;T | snv | 0.700 | 1.000 | 1 | 2013 | 2013 | |||||||
|
1 | 12 | 14439909 | intron variant | A/G | snv | 0.29 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||||
|
1 | 12 | 14381492 | intron variant | G/A;C | snv | 0.700 | 1.000 | 1 | 2013 | 2013 | |||||||
|
3 | 1.000 | 0.040 | 12 | 14458588 | intron variant | C/T | snv | 0.40 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||
|
1 | 1 | 205669094 | intron variant | G/A | snv | 8.8E-02 | 0.800 | 1.000 | 1 | 2013 | 2013 | ||||||
|
3 | 0.925 | 0.080 | 19 | 50889862 | intron variant | A/G | snv | 0.50 | 0.800 | 1.000 | 1 | 2013 | 2013 | ||||
|
1 | 19 | 50895632 | non coding transcript exon variant | A/C | snv | 0.50 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||||
|
1 | 19 | 50881997 | downstream gene variant | A/G | snv | 0.28 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||||
|
1 | 19 | 50887097 | intron variant | A/G | snv | 0.50 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||||
|
1 | 19 | 50886304 | intron variant | C/T | snv | 0.49 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||||
|
1 | 19 | 50876637 | synonymous variant | C/T | snv | 0.35 | 0.41 | 0.700 | 1.000 | 1 | 2013 | 2013 |