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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
2 | 0.925 | 0.160 | 7 | 36819038 | non coding transcript exon variant | A/G | snv | 0.46 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
1 | 1.000 | 0.120 | 7 | 37161008 | intron variant | G/A | snv | 0.61 | 0.010 | < 0.001 | 1 | 2019 | 2019 | ||||
|
73 | 0.557 | 0.760 | 20 | 46011586 | missense variant | A/G | snv | 0.39 | 0.36 | 0.010 | 1.000 | 1 | 2019 | 2019 | |||
|
2 | 0.925 | 0.200 | 13 | 40557795 | 3 prime UTR variant | C/T | snv | 3.7E-02 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
18 | 0.790 | 0.240 | 16 | 56961324 | upstream gene variant | C/A;G | snv | 0.51; 5.7E-06 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
43 | 0.605 | 0.800 | 7 | 22726602 | non coding transcript exon variant | A/G | snv | 0.72 | 0.010 | < 0.001 | 1 | 2019 | 2019 | ||||
|
18 | 0.724 | 0.520 | 7 | 22728408 | intron variant | A/C;G | snv | 0.010 | < 0.001 | 1 | 2019 | 2019 | |||||
|
13 | 0.742 | 0.360 | 7 | 22728953 | intron variant | C/G | snv | 0.27 | 0.010 | < 0.001 | 1 | 2019 | 2019 | ||||
|
3 | 0.925 | 0.160 | 9 | 35381507 | intron variant | C/T | snv | 0.35 | 0.38 | 0.010 | 1.000 | 1 | 2019 | 2019 | |||
|
2 | 0.925 | 0.160 | 7 | 5531994 | intron variant | C/T | snv | 0.41 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
3 | 0.882 | 0.280 | 15 | 101277671 | upstream gene variant | C/A;T | snv | 0.24 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
1 | 1.000 | 0.120 | 1 | 204455900 | synonymous variant | G/A | snv | 0.19 | 0.15 | 0.010 | 1.000 | 1 | 2019 | 2019 | |||
|
7 | 0.851 | 0.320 | 16 | 56960982 | upstream gene variant | G/A | snv | 0.48 | 0.47 | 0.010 | 1.000 | 1 | 2019 | 2019 | |||
|
2 | 0.925 | 0.160 | 19 | 48763133 | downstream gene variant | C/G | snv | 0.45 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
3 | 0.925 | 0.160 | 2 | 227256385 | missense variant | G/A;T | snv | 4.0E-06; 0.17 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
2 | 0.925 | 0.200 | 1 | 216437370 | intergenic variant | C/T | snv | 0.94 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
2 | 0.925 | 0.160 | 10 | 17114074 | missense variant | T/C | snv | 7.6E-05 | 2.8E-05 | 0.010 | 1.000 | 1 | 2019 | 2019 | |||
|
2 | 0.925 | 0.160 | 7 | 36865445 | intron variant | C/A | snv | 0.46 | 0.010 | < 0.001 | 1 | 2019 | 2019 | ||||
|
1 | 1.000 | 0.120 | 19 | 48753131 | intron variant | T/C | snv | 0.41 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
5 | 0.882 | 0.240 | 7 | 5526722 | downstream gene variant | C/T | snv | 0.39 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
4 | 0.882 | 0.240 | 17 | 5521757 | missense variant | T/C | snv | 0.45 | 0.47 | 0.010 | 1.000 | 1 | 2018 | 2018 | |||
|
3 | 0.882 | 0.160 | 15 | 73811619 | intergenic variant | C/T | snv | 0.700 | 1.000 | 1 | 2018 | 2018 | |||||
|
1 | 1.000 | 0.120 | 4 | 6301015 | missense variant | A/G | snv | 4.4E-05 | 1.0E-04 | 0.010 | 1.000 | 1 | 2018 | 2018 | |||
|
188 | 0.457 | 0.880 | 11 | 67585218 | missense variant | A/G | snv | 0.34 | 0.36 | 0.010 | 1.000 | 1 | 2018 | 2018 | |||
|
169 | 0.472 | 0.920 | 6 | 31575254 | upstream gene variant | G/A | snv | 0.12 | 0.14 | 0.010 | 1.000 | 1 | 2018 | 2018 |