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 | 13 | 73240754 | intergenic variant | G/T | snv | 0.31 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||
|
1 | 1.000 | 0.080 | 14 | 53759970 | intron variant | A/G | snv | 0.83 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||
|
1 | 1.000 | 0.080 | 6 | 125695434 | intron variant | G/A;C | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||
|
1 | 1.000 | 0.080 | 8 | 117816659 | intron variant | T/C | snv | 2.3E-02 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||
|
1 | 1.000 | 0.080 | 12 | 42656220 | intron variant | C/T | snv | 9.3E-02 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||
|
1 | 1.000 | 0.080 | 2 | 60670444 | intergenic variant | G/A | snv | 3.9E-02 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||
|
1 | 1.000 | 0.080 | 12 | 77944606 | intron variant | A/T | snv | 0.48 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||
|
1 | 1.000 | 0.080 | 9 | 22207038 | intron variant | T/A;C | snv | 0.700 | 1.000 | 1 | 2018 | 2018 | |||||
|
1 | 1.000 | 0.080 | 8 | 128525500 | intron variant | G/C | snv | 9.8E-02 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||
|
3 | 1.000 | 0.080 | 15 | 51261712 | intron variant | A/G | snv | 0.58 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||
|
1 | 1.000 | 0.080 | 9 | 10266786 | intron variant | C/T | snv | 0.72 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||
|
2 | 0.925 | 0.120 | 17 | 37736310 | intron variant | G/A | snv | 0.46 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||
|
2 | 0.925 | 0.080 | 11 | 58158505 | intron variant | C/T | snv | 0.52 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||
|
2 | 0.925 | 0.080 | 17 | 48184809 | missense variant | C/T | snv | 4.0E-06; 0.63 | 0.55 | 0.700 | 1.000 | 1 | 2018 | 2018 | |||
|
2 | 1.000 | 0.080 | 15 | 51245609 | intron variant | T/C | snv | 0.65 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||
|
1 | 1.000 | 0.080 | 14 | 104776883 | non coding transcript exon variant | G/A | snv | 0.33 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||
|
1 | 1.000 | 0.080 | 6 | 125687226 | intron variant | A/G;T | snv | 0.700 | 1.000 | 1 | 2018 | 2018 | |||||
|
1 | 1.000 | 0.080 | 6 | 125688970 | intron variant | A/G | snv | 0.48 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||
|
2 | 1.000 | 0.080 | 3 | 12293492 | intron variant | G/A | snv | 0.59 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||
|
7 | 1.000 | 0.080 | 7 | 99533211 | 3 prime UTR variant | G/A;T | snv | 7.7E-06; 2.6E-02 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||
|
1 | 1.000 | 0.080 | 8 | 128433618 | intron variant | TATATA/-;TATA;TATATATA;TATATATATA | delins | 0.700 | 1.000 | 1 | 2018 | 2018 | |||||
|
1 | 1.000 | 0.080 | 4 | 133040031 | intergenic variant | T/- | del | 8.8E-03 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||
|
1 | 1.000 | 0.080 | 12 | 84220725 | intron variant | -/ATGTGT | delins | 0.700 | 1.000 | 1 | 2018 | 2018 | |||||
|
1 | 1.000 | 0.080 | 6 | 19914263 | intergenic variant | C/T | snv | 0.55 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||
|
1 | 1.000 | 0.080 | 17 | 37738996 | intron variant | A/G | snv | 0.35 | 0.700 | 1.000 | 1 | 2011 | 2011 |