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 | 7 | 94371161 | intron variant | T/C | snv | 0.17 | 0.800 | 1.000 | 1 | 2012 | 2012 | ||||||
|
1 | 11 | 24718258 | intron variant | G/A | snv | 0.56 | 0.800 | 1.000 | 1 | 2012 | 2012 | ||||||
|
1 | 10 | 62463624 | intron variant | T/C | snv | 0.30 | 0.800 | 1.000 | 1 | 2012 | 2012 | ||||||
|
1 | 22 | 31628994 | intron variant | A/G | snv | 0.49 | 0.800 | 1.000 | 1 | 2012 | 2012 | ||||||
|
1 | 3 | 2854000 | intron variant | T/C | snv | 0.79 | 0.800 | 1.000 | 1 | 2012 | 2012 | ||||||
|
1 | 2 | 126573377 | intergenic variant | T/G | snv | 5.1E-02 | 0.800 | 1.000 | 1 | 2012 | 2012 | ||||||
|
1 | 1 | 33715242 | intron variant | G/T | snv | 8.8E-02 | 0.800 | 1.000 | 1 | 2012 | 2012 | ||||||
|
1 | 4 | 130206478 | intergenic variant | T/A;C | snv | 0.800 | 1.000 | 1 | 2012 | 2012 | |||||||
|
1 | 10 | 5306374 | upstream gene variant | T/C | snv | 0.44 | 0.800 | 1.000 | 1 | 2012 | 2012 | ||||||
|
1 | 2 | 200706420 | splice donor variant | G/A | snv | 0.22 | 0.800 | 1.000 | 1 | 2012 | 2012 | ||||||
|
1 | 9 | 134377610 | intron variant | T/C | snv | 0.42 | 0.800 | 1.000 | 1 | 2012 | 2012 | ||||||
|
1 | 9 | 36997420 | intron variant | G/A | snv | 0.22 | 0.800 | 1.000 | 1 | 2012 | 2012 | ||||||
|
1 | 19 | 48019612 | intron variant | T/C | snv | 0.28 | 0.800 | 1.000 | 1 | 2012 | 2012 | ||||||
|
1 | 22 | 31833663 | intron variant | G/A;C | snv | 0.800 | 1.000 | 1 | 2012 | 2012 | |||||||
|
1 | 20 | 16470997 | intron variant | A/C;T | snv | 0.22 | 0.800 | 1.000 | 1 | 2012 | 2012 | ||||||
|
1 | 3 | 2839891 | intron variant | A/C;G;T | snv | 0.800 | 1.000 | 1 | 2012 | 2012 | |||||||
|
1 | 7 | 94380322 | non coding transcript exon variant | T/A;C | snv | 0.800 | 1.000 | 1 | 2012 | 2012 | |||||||
|
4 | 0.925 | 0.040 | 12 | 48995537 | 3 prime UTR variant | A/C | snv | 0.46 | 0.700 | 1.000 | 4 | 2017 | 2019 | ||||
|
1 | 9 | 69488398 | intron variant | G/A;T | snv | 0.700 | 1.000 | 4 | 2017 | 2019 | |||||||
|
1 | 2 | 100236272 | intron variant | C/T | snv | 0.27 | 0.700 | 1.000 | 4 | 2017 | 2019 | ||||||
|
1 | 6 | 98137626 | intron variant | A/G | snv | 0.19 | 0.700 | 1.000 | 4 | 2017 | 2019 | ||||||
|
4 | 0.851 | 0.080 | 14 | 32823537 | synonymous variant | A/C | snv | 0.60 | 0.65 | 0.700 | 1.000 | 4 | 2018 | 2019 | |||
|
2 | 1.000 | 0.040 | 13 | 105987507 | intron variant | T/A;C;G | snv | 0.700 | 1.000 | 4 | 2017 | 2019 | |||||
|
1 | 1 | 72267927 | intron variant | G/A | snv | 6.6E-02 | 0.700 | 1.000 | 4 | 2017 | 2019 | ||||||
|
2 | 1.000 | 0.040 | 3 | 24072206 | intergenic variant | T/C | snv | 0.74 | 0.700 | 1.000 | 4 | 2017 | 2019 |