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 | 17 | 45767194 | intron variant | T/G | snv | 0.14 | 0.700 | 1.000 | 2 | 2018 | 2018 | ||||||
|
1 | 18 | 43188344 | intergenic variant | A/T | snv | 0.43 | 0.700 | 1.000 | 2 | 2018 | 2018 | ||||||
|
1 | 15 | 74035775 | missense variant | A/C;G | snv | 0.52 | 0.700 | 1.000 | 2 | 2018 | 2018 | ||||||
|
1 | 6 | 80144753 | intron variant | T/C | snv | 0.36 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||||
|
1 | 8 | 23735787 | intron variant | T/A | snv | 0.30 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||||
|
6 | 14 | 25458973 | intergenic variant | C/A | snv | 0.37 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||||
|
7 | 0.925 | 0.080 | 2 | 164656581 | intron variant | T/C | snv | 0.48 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||
|
1 | 7 | 20391962 | intron variant | C/T | snv | 0.57 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||||
|
6 | 19 | 47093845 | non coding transcript exon variant | T/C | snv | 0.52 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||||
|
3 | 1.000 | 0.040 | 1 | 218451191 | intergenic variant | T/C | snv | 0.33 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||
|
2 | 7 | 128769958 | 3 prime UTR variant | G/A | snv | 0.19 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
4 | 1.000 | 0.080 | 1 | 184054395 | missense variant | A/C;G;T | snv | 0.34; 4.0E-06 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||
|
2 | 1 | 218432267 | intron variant | G/A;T | snv | 0.700 | 1.000 | 1 | 2017 | 2017 | |||||||
|
2 | 3 | 25058285 | intron variant | T/C | snv | 0.53 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||||
|
3 | 1.000 | 0.040 | 7 | 25831489 | non coding transcript exon variant | C/T | snv | 0.16 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||
|
1 | 10 | 94133757 | intron variant | A/G | snv | 0.49 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||||
|
5 | 3 | 129615390 | intergenic variant | C/A | snv | 0.63 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||||
|
4 | 12 | 26318431 | intron variant | C/G;T | snv | 0.700 | 1.000 | 1 | 2017 | 2017 | |||||||
|
2 | 12 | 26321934 | intron variant | G/A | snv | 0.62 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||||
|
1 | 12 | 28318386 | intron variant | G/A | snv | 0.20 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||||
|
1 | 12 | 4808002 | intron variant | T/C | snv | 0.15 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
2 | 12 | 54027692 | intron variant | C/A;G | snv | 0.700 | 1.000 | 1 | 2017 | 2017 | |||||||
|
4 | 1 | 170403362 | intergenic variant | A/C | snv | 0.71 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||||
|
4 | 1 | 118962811 | intron variant | G/A | snv | 0.56 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||||
|
3 | 1 | 119004219 | upstream gene variant | C/T | snv | 0.53 | 0.700 | 1.000 | 1 | 2017 | 2017 |