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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
38 | 0.701 | 0.400 | 22 | 37066896 | missense variant | A/G;T | snv | 0.57; 4.0E-06 | 0.700 | 1.000 | 2 | 2014 | 2017 | ||||
|
1 | 8 | 36920273 | intron variant | C/A | snv | 1.0E-02 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||||
|
1 | 8 | 37125160 | intergenic variant | G/A | snv | 1.2E-02 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||||
|
15 | 0.790 | 0.200 | X | 154536002 | missense variant | C/T | snv | 9.1E-03 | 3.6E-02 | 0.700 | 1.000 | 1 | 2017 | 2017 | |||
|
2 | 6 | 25373818 | intron variant | C/T | snv | 0.11 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||||
|
1 | 7 | 23289983 | regulatory region variant | G/A | snv | 1.1E-02 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||||
|
2 | 6 | 26255511 | upstream gene variant | G/A | snv | 0.10 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||||
|
4 | 6 | 25715429 | regulatory region variant | G/A;T | snv | 0.700 | 1.000 | 1 | 2017 | 2017 | |||||||
|
1 | 2 | 107482651 | intron variant | G/C | snv | 3.5E-03 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||||
|
4 | 6 | 27033276 | intron variant | C/G;T | snv | 0.700 | 1.000 | 1 | 2017 | 2017 | |||||||
|
1 | 22 | 33416876 | intron variant | G/A;C | snv | 0.700 | 1.000 | 1 | 2017 | 2017 | |||||||
|
1 | 20 | 32849813 | 3 prime UTR variant | G/C | snv | 9.3E-03 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||||
|
1 | X | 154677735 | 3 prime UTR variant | C/T | snv | 4.2E-02 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||||
|
2 | 6 | 109780207 | intron variant | G/A | snv | 5.9E-03 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||||
|
1 | 11 | 62887212 | intron variant | G/A | snv | 3.2E-03 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||||
|
1 | 11 | 33988237 | TF binding site variant | G/A | snv | 3.2E-03 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||||
|
2 | 5 | 55020802 | intron variant | T/C | snv | 5.4E-03 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||||
|
1 | X | 155675419 | intergenic variant | T/C | snv | 4.0E-02 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||||
|
5 | 3 | 133756878 | synonymous variant | C/T | snv | 0.13 | 0.11 | 0.700 | 1.000 | 1 | 2014 | 2014 | |||||
|
226 | 0.452 | 0.760 | 6 | 26090951 | missense variant | C/G;T | snv | 0.11 | 0.10 | 0.700 | 1.000 | 1 | 2017 | 2017 | |||
|
262 | 0.435 | 0.880 | 6 | 26092913 | missense variant | G/A | snv | 3.3E-02 | 3.8E-02 | 0.700 | 1.000 | 1 | 2014 | 2014 | |||
|
2 | 6 | 157434218 | intron variant | T/A | snv | 7.5E-04 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||||
|
1 | 3 | 82041833 | intron variant | A/G | snv | 3.8E-03 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||||
|
2 | 6 | 25494109 | intron variant | AGTT/- | delins | 2.8E-02 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||||
|
2 | 5 | 118970884 | intron variant | A/C | snv | 0.98 | 0.700 | 1.000 | 1 | 2017 | 2017 |