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 | 11 | 58705326 | intron variant | C/A;G | snv | 0.800 | 1.000 | 1 | 2013 | 2013 | |||||||
|
1 | 8 | 109103447 | intron variant | C/T | snv | 0.29 | 0.800 | 1.000 | 1 | 2009 | 2009 | ||||||
|
1 | 5 | 55581157 | intergenic variant | A/G | snv | 0.70 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
1 | 7 | 42108589 | intron variant | C/T | snv | 0.31 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
1 | 3 | 85497648 | intron variant | G/A | snv | 0.51 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
34 | 0.827 | 0.200 | 2 | 210675783 | missense variant | C/A | snv | 0.30 | 0.33 | 0.700 | 1.000 | 1 | 2019 | 2019 | |||
|
3 | 1 | 61914626 | missense variant | G/A;C | snv | 0.57; 8.0E-06 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||||
|
1 | 1 | 22356912 | intergenic variant | T/C | snv | 0.65 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
19 | 0.851 | 0.200 | 4 | 45180510 | intergenic variant | A/G | snv | 0.37 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
1 | 10 | 75461756 | intron variant | G/A;C | snv | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||||
|
2 | 10 | 24889935 | intron variant | G/A | snv | 0.11 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
3 | 11 | 27706555 | intron variant | G/A;T | snv | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||||
|
1 | 1 | 218461445 | intron variant | A/G | snv | 0.40 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
1 | 3 | 72343159 | intergenic variant | C/T | snv | 0.55 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
1 | 1 | 50755008 | intron variant | T/C | snv | 8.7E-02 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
1 | 8 | 143933019 | missense variant | G/A | snv | 0.33 | 0.29 | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||
|
1 | 14 | 100720304 | regulatory region variant | C/G;T | snv | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||||
|
3 | 10 | 94278929 | non coding transcript exon variant | G/A | snv | 0.44 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
1 | 10 | 122395110 | intron variant | C/G;T | snv | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||||
|
1 | 6 | 7718832 | intergenic variant | T/C | snv | 0.39 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
5 | 16 | 53783406 | intron variant | G/A | snv | 9.4E-02 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||||
|
1 | 1 | 243978778 | intron variant | G/A | snv | 3.8E-02 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
2 | 2 | 33123612 | intron variant | A/G | snv | 5.6E-02 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
1 | 10 | 100914591 | intron variant | A/G | snv | 0.35 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
2 | 15 | 41803948 | intron variant | C/A | snv | 0.15 | 0.700 | 1.000 | 1 | 2019 | 2019 |