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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
6 | 20 | 54115823 | intergenic variant | T/C | snv | 0.17 | 0.700 | 1.000 | 5 | 2016 | 2019 | ||||||
|
3 | 1 | 201047168 | missense variant | G/A | snv | 0.12 | 8.9E-02 | 0.700 | 1.000 | 5 | 2016 | 2019 | |||||
|
3 | 12 | 75877403 | intron variant | G/A | snv | 0.40 | 0.700 | 1.000 | 4 | 2018 | 2019 | ||||||
|
2 | 7 | 155871992 | intergenic variant | C/A;T | snv | 0.40 | 0.700 | 1.000 | 4 | 2017 | 2019 | ||||||
|
3 | 7 | 151717243 | intron variant | T/A;C | snv | 0.700 | 1.000 | 3 | 2016 | 2019 | |||||||
|
2 | 5 | 68443447 | regulatory region variant | G/A;T | snv | 8.7E-02 | 0.700 | 1.000 | 3 | 2017 | 2019 | ||||||
|
1 | 1 | 112716059 | non coding transcript exon variant | T/C | snv | 8.9E-02 | 0.700 | 1.000 | 3 | 2019 | 2019 | ||||||
|
2 | 16 | 51721080 | intergenic variant | T/C | snv | 0.23 | 0.700 | 1.000 | 3 | 2018 | 2019 | ||||||
|
1 | 18 | 5585159 | intron variant | A/G | snv | 0.37 | 0.700 | 1.000 | 3 | 2019 | 2019 | ||||||
|
4 | 18 | 48934533 | intron variant | C/A;G | snv | 0.700 | 1.000 | 3 | 2018 | 2019 | |||||||
|
2 | 21 | 33984405 | regulatory region variant | G/A | snv | 0.11 | 0.700 | 1.000 | 3 | 2019 | 2019 | ||||||
|
5 | 20 | 54114863 | intergenic variant | A/T | snv | 0.28 | 0.700 | 1.000 | 3 | 2017 | 2019 | ||||||
|
1 | 12 | 3283185 | 3 prime UTR variant | A/G | snv | 0.44 | 0.700 | 1.000 | 3 | 2019 | 2019 | ||||||
|
1 | 8 | 23862058 | TF binding site variant | C/A;G;T | snv | 0.700 | 1.000 | 3 | 2019 | 2019 | |||||||
|
2 | 14 | 50269229 | synonymous variant | T/C | snv | 1.0E-02 | 9.9E-03 | 0.700 | 1.000 | 3 | 2019 | 2019 | |||||
|
2 | 10 | 68205420 | intron variant | C/T | snv | 0.41 | 0.700 | 1.000 | 3 | 2018 | 2019 | ||||||
|
3 | 7 | 151718450 | intron variant | C/T | snv | 0.23 | 0.700 | 1.000 | 2 | 2017 | 2019 | ||||||
|
2 | 9 | 68819549 | intron variant | G/A | snv | 0.63 | 0.700 | 1.000 | 2 | 2017 | 2019 | ||||||
|
1 | 12 | 239710 | intron variant | T/C | snv | 0.58 | 0.700 | 1.000 | 2 | 2019 | 2019 | ||||||
|
1 | 10 | 68192084 | intron variant | G/C | snv | 0.45 | 0.700 | 1.000 | 2 | 2019 | 2019 | ||||||
|
1 | 12 | 15172097 | intron variant | A/C | snv | 0.29 | 0.700 | 1.000 | 2 | 2019 | 2019 | ||||||
|
1 | 12 | 112115228 | intergenic variant | T/A | snv | 0.36 | 0.700 | 1.000 | 2 | 2019 | 2019 | ||||||
|
2 | 12 | 255573 | intron variant | G/A | snv | 0.36 | 0.700 | 1.000 | 2 | 2017 | 2019 | ||||||
|
1 | 9 | 136216033 | intron variant | C/A;T | snv | 0.700 | 1.000 | 2 | 2019 | 2019 | |||||||
|
2 | 5 | 53999716 | intron variant | C/T | snv | 8.4E-02 | 0.700 | 1.000 | 2 | 2017 | 2019 |