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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
11 | 0.752 | 0.280 | 9 | 6240084 | intron variant | T/C;G | snv | 0.010 | 1.000 | 1 | 2019 | 2019 | |||||
|
13 | 0.752 | 0.520 | 9 | 6254208 | intron variant | C/T | snv | 0.51 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
9 | 0.827 | 0.160 | 11 | 27655494 | 3 prime UTR variant | C/G;T | snv | 0.010 | 1.000 | 1 | 2019 | 2019 | |||||
|
6 | 0.851 | 0.120 | 15 | 78849442 | intron variant | T/C | snv | 0.45 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
5 | 0.925 | 0.080 | 4 | 155714157 | intron variant | G/A | snv | 0.16 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
4 | 0.925 | 0.080 | 9 | 22087474 | non coding transcript exon variant | T/A;C | snv | 0.010 | 1.000 | 1 | 2019 | 2019 | |||||
|
1 | 12 | 71937538 | upstream gene variant | C/A;G | snv | 0.010 | 1.000 | 1 | 2019 | 2019 | |||||||
|
62 | 0.583 | 0.680 | 6 | 151842246 | intron variant | A/G | snv | 0.32 | 0.010 | < 0.001 | 1 | 2019 | 2019 | ||||
|
1 | 7 | 18999982 | 3 prime UTR variant | T/A;C | snv | 0.020 | 1.000 | 2 | 2018 | 2019 | |||||||
|
1 | 13 | 110181552 | intron variant | T/A;C | snv | 0.710 | 1.000 | 2 | 2018 | 2018 | |||||||
|
3 | 0.925 | 0.200 | 19 | 53810809 | stop gained | G/A | snv | 1.5E-04 | 4.3E-04 | 0.010 | 1.000 | 1 | 2018 | 2018 | |||
|
3 | 1.000 | 0.080 | 1 | 156232382 | missense variant | A/C;G | snv | 1.0E-03; 0.38 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||
|
1 | 12 | 2681964 | missense variant | C/T | snv | 4.0E-06; 0.78 | 0.71 | 0.010 | 1.000 | 1 | 2018 | 2018 | |||||
|
1 | 16 | 55485623 | synonymous variant | G/C | snv | 0.31 | 0.26 | 0.010 | 1.000 | 1 | 2018 | 2018 | |||||
|
2 | 1.000 | 0.080 | 5 | 122179500 | intron variant | A/G | snv | 0.18 | 0.19 | 0.700 | 1.000 | 1 | 2018 | 2018 | |||
|
2 | 1 | 112500200 | intron variant | T/C | snv | 8.6E-02 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
1 | 15 | 56012299 | intergenic variant | C/G;T | snv | 0.700 | 1.000 | 1 | 2018 | 2018 | |||||||
|
2 | 1.000 | 0.080 | 16 | 87541726 | intergenic variant | G/A | snv | 0.27 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||
|
3 | 1.000 | 0.080 | 2 | 26692756 | 5 prime UTR variant | G/C;T | snv | 0.700 | 1.000 | 1 | 2018 | 2018 | |||||
|
3 | 0.925 | 0.080 | 16 | 73035989 | intron variant | T/C | snv | 0.18 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||
|
4 | 0.882 | 0.120 | 4 | 110793263 | upstream gene variant | T/C;G | snv | 0.700 | 1.000 | 1 | 2018 | 2018 | |||||
|
2 | 1.000 | 0.040 | 19 | 53804069 | missense variant | A/G | snv | 0.010 | 1.000 | 1 | 2018 | 2018 | |||||
|
2 | 1.000 | 0.080 | 1 | 11046616 | missense variant | G/A | snv | 6.5E-04 | 6.4E-04 | 0.010 | 1.000 | 1 | 2018 | 2018 | |||
|
21 | 0.827 | 0.120 | 16 | 53769662 | intron variant | T/A | snv | 0.31 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
5 | 6 | 43294966 | upstream gene variant | A/T | snv | 0.42 | 0.700 | 1.000 | 1 | 2018 | 2018 |