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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
9 | 7 | 92779056 | intron variant | C/T | snv | 0.14 | 0.800 | 1.000 | 4 | 2011 | 2019 | ||||||
|
3 | 3 | 128597592 | intergenic variant | A/G | snv | 0.13 | 0.800 | 1.000 | 3 | 2011 | 2017 | ||||||
|
1 | 5 | 10624754 | missense variant | T/G | snv | 0.18 | 0.20 | 0.700 | 1.000 | 2 | 2016 | 2019 | |||||
|
3 | 1 | 199043349 | intron variant | A/C | snv | 0.70 | 0.700 | 1.000 | 2 | 2016 | 2019 | ||||||
|
3 | 2 | 233206983 | 3 prime UTR variant | C/T | snv | 0.30 | 0.700 | 1.000 | 2 | 2016 | 2019 | ||||||
|
2 | 11 | 128315955 | regulatory region variant | G/C | snv | 0.36 | 0.700 | 1.000 | 2 | 2016 | 2019 | ||||||
|
4 | 1 | 150623061 | intron variant | G/A;T | snv | 0.700 | 1.000 | 2 | 2016 | 2019 | |||||||
|
2 | 14 | 93951185 | missense variant | T/C | snv | 3.3E-02 | 3.7E-02 | 0.700 | 1.000 | 2 | 2016 | 2019 | |||||
|
1 | 7 | 113142501 | intron variant | G/A | snv | 0.32 | 0.700 | 1.000 | 2 | 2016 | 2019 | ||||||
|
2 | 12 | 4209557 | intergenic variant | C/T | snv | 0.27 | 0.700 | 1.000 | 2 | 2016 | 2019 | ||||||
|
1 | 3 | 128587914 | regulatory region variant | G/A | snv | 0.11 | 0.700 | 1.000 | 2 | 2017 | 2019 | ||||||
|
2 | 7 | 50376454 | intron variant | G/T | snv | 1.0E-02 | 0.700 | 1.000 | 2 | 2016 | 2019 | ||||||
|
1 | 3 | 3111655 | intron variant | G/A | snv | 0.56 | 0.700 | 1.000 | 2 | 2016 | 2019 | ||||||
|
2 | 14 | 75509305 | intergenic variant | C/A;G;T | snv | 0.700 | 1.000 | 2 | 2016 | 2019 | |||||||
|
10 | 18 | 63253621 | intron variant | C/T | snv | 2.1E-02 | 0.700 | 1.000 | 2 | 2016 | 2019 | ||||||
|
3 | 1 | 23520972 | missense variant | C/A | snv | 0.45 | 0.39 | 0.700 | 1.000 | 2 | 2016 | 2019 | |||||
|
2 | 1 | 198697103 | intron variant | A/G | snv | 0.21 | 0.700 | 1.000 | 2 | 2016 | 2019 | ||||||
|
1 | 2 | 96535945 | upstream gene variant | G/A;C | snv | 0.700 | 1.000 | 2 | 2016 | 2019 | |||||||
|
3 | 8 | 144103704 | missense variant | G/A;C | snv | 7.3E-02 | 0.700 | 1.000 | 2 | 2016 | 2019 | ||||||
|
3 | 19 | 1079960 | missense variant | G/A | snv | 5.7E-02 | 5.9E-02 | 0.700 | 1.000 | 2 | 2016 | 2019 | |||||
|
2 | 19 | 16316300 | intron variant | A/G | snv | 0.32 | 0.700 | 1.000 | 2 | 2016 | 2019 | ||||||
|
4 | 8 | 47739071 | upstream gene variant | A/G;T | snv | 0.700 | 1.000 | 2 | 2016 | 2019 | |||||||
|
2 | 19 | 38409359 | 3 prime UTR variant | G/A | snv | 5.5E-02 | 0.700 | 1.000 | 2 | 2016 | 2019 | ||||||
|
2 | 2 | 111630955 | non coding transcript exon variant | C/T | snv | 0.76 | 0.700 | 1.000 | 2 | 2016 | 2019 | ||||||
|
2 | 6 | 33573730 | 3 prime UTR variant | A/G | snv | 0.73 | 0.700 | 1.000 | 2 | 2016 | 2019 |