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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
43 | 0.641 | 0.600 | 15 | 78601997 | synonymous variant | G/A | snv | 0.27 | 0.26 | 0.700 | 1.000 | 4 | 2008 | 2010 | |||
|
272 | 0.436 | 0.760 | 11 | 27658369 | missense variant | C/T | snv | 0.19 | 0.15 | 0.700 | 1.000 | 2 | 2010 | 2019 | |||
|
1 | 4 | 28061344 | intergenic variant | C/G | snv | 0.78 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
1 | 4 | 140051110 | intron variant | C/A | snv | 0.24 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
2 | 4 | 188094248 | intron variant | G/A | snv | 0.56 | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||||
|
2 | 9 | 116202676 | intron variant | G/C | snv | 1.1E-02 | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||||
|
2 | 5 | 108816727 | intron variant | G/A | snv | 0.23 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||||
|
1 | 2 | 44931952 | intron variant | G/A | snv | 0.68 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
6 | 14 | 25458973 | intergenic variant | C/A | snv | 0.37 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||||
|
2 | 2 | 50521617 | intron variant | G/A;C | snv | 0.700 | 1.000 | 1 | 2015 | 2015 | |||||||
|
1 | 10 | 13507462 | intron variant | G/C | snv | 0.30 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
2 | 2 | 59078490 | intron variant | T/A;C;G | snv | 0.700 | 1.000 | 1 | 2017 | 2017 | |||||||
|
3 | 1.000 | 0.080 | 2 | 24927427 | intergenic variant | A/G | snv | 0.57 | 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 | 4 | 35474678 | intergenic variant | A/C | snv | 0.52 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
2 | 1.000 | 0.040 | 7 | 22242733 | intron variant | C/T | snv | 0.51 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
4 | 7 | 25818994 | intergenic variant | C/A | snv | 0.16 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||||
|
1 | 7 | 122315414 | upstream gene variant | T/C | snv | 0.37 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
2 | 7 | 92624658 | intron variant | G/A | snv | 0.36 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||||
|
1 | 7 | 133905093 | intron variant | G/A | snv | 0.69 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
2 | 19 | 40911822 | non coding transcript exon variant | G/A | snv | 0.74 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||||
|
2 | 5 | 173223484 | downstream gene variant | A/G | snv | 4.3E-02 | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||||
|
6 | 1.000 | 0.120 | 5 | 119393591 | 3 prime UTR variant | C/T | snv | 0.30 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||
|
1 | 4 | 27488957 | intergenic variant | G/A | snv | 0.68 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
2 | 11 | 61717684 | intron variant | C/T | snv | 6.0E-02 | 0.700 | 1.000 | 1 | 2015 | 2015 |