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 | 1.000 | 0.080 | 3 | 73570410 | intron variant | G/C;T | snv | 0.13 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||
|
2 | 1.000 | 0.080 | 6 | 160130454 | intron variant | C/A;T | snv | 0.700 | 1.000 | 1 | 2018 | 2018 | |||||
|
4 | 1.000 | 0.080 | 14 | 63773159 | intron variant | -/ATTT | delins | 0.24 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||
|
1 | 1.000 | 0.080 | 3 | 5505762 | intergenic variant | T/A | snv | 1.6E-02 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
2 | 1.000 | 0.080 | 11 | 61774535 | intron variant | AAAAA/-;AAA;AAAA;AAAAAA | delins | 0.30 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||
|
1 | 1.000 | 0.080 | 4 | 117920116 | intergenic variant | G/A | snv | 4.9E-02 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
2 | 1.000 | 0.080 | 15 | 45391597 | intron variant | G/T | snv | 0.56 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
1 | 1.000 | 0.080 | 14 | 56358353 | intron variant | G/A | snv | 6.5E-03 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
1 | 1.000 | 0.080 | 9 | 76994030 | downstream gene variant | T/C | snv | 1.8E-02 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
7 | 0.827 | 0.120 | 14 | 81151652 | intron variant | G/A | snv | 4.7E-02 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||
|
1 | 1.000 | 0.080 | 16 | 62966386 | intergenic variant | A/G | snv | 0.19 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
1 | 1.000 | 0.080 | 11 | 24209937 | intergenic variant | A/G | snv | 2.6E-02 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
2 | 1.000 | 0.080 | 18 | 65592400 | intergenic variant | A/G | snv | 0.20 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||
|
7 | 0.882 | 0.200 | 10 | 59709780 | 5 prime UTR variant | T/C | snv | 0.79 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||
|
6 | 0.882 | 0.200 | 10 | 59708831 | intron variant | G/T | snv | 0.79 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||
|
1 | 1.000 | 0.080 | 12 | 105391125 | intron variant | A/C | snv | 2.2E-02 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
3 | 0.882 | 0.160 | 15 | 73811619 | intergenic variant | C/T | snv | 0.700 | 1.000 | 1 | 2018 | 2018 | |||||
|
2 | 1.000 | 0.080 | 22 | 18923820 | non coding transcript exon variant | C/A | snv | 0.700 | 1.000 | 1 | 2018 | 2018 | |||||
|
4 | 1.000 | 0.080 | 5 | 39397030 | intron variant | T/A | snv | 0.39 | 0.700 | 1.000 | 1 | 2010 | 2010 | ||||
|
1 | 1.000 | 0.080 | 1 | 147339048 | intron variant | T/C | snv | 4.9E-02 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
2 | 1.000 | 0.080 | 1 | 75671921 | intron variant | T/C | snv | 0.27 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||
|
2 | 1.000 | 0.080 | 6 | 110454809 | intron variant | A/G;T | snv | 0.700 | 1.000 | 1 | 2018 | 2018 | |||||
|
2 | 1.000 | 0.080 | 6 | 160212075 | intron variant | T/A;G | snv | 0.12 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
2 | 1.000 | 0.080 | 7 | 157757146 | intron variant | T/G | snv | 0.25 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||
|
10 | 1.000 | 0.080 | 4 | 80261400 | intergenic variant | T/C | snv | 0.23 | 0.700 | 1.000 | 1 | 2019 | 2019 |