Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs3116996 | 6 | 33130187 | downstream gene variant | T/A | snv | 0.13 | 1 | ||||
rs751703423 | 7 | 6023410 | missense variant | G/A;C | snv | 1 | |||||
rs1290547844 | 19 | 15273041 | missense variant | C/T | snv | 4.0E-06 | 1 | ||||
rs2071025 | 6 | 33175979 | intron variant | A/G | snv | 0.28 | 0.29 | 1 | |||
rs868564661 | 10 | 121487415 | missense variant | G/A | snv | 1 | |||||
rs954917585 | 10 | 121479973 | missense variant | G/A | snv | 8.0E-06 | 1.4E-05 | 1 | |||
rs1921 | 1 | 1014228 | missense variant | G/A;C | snv | 0.36 | 1 | ||||
rs1281032650 | 5 | 96979168 | missense variant | A/G | snv | 1 | |||||
rs7314777 | 12 | 68256855 | upstream gene variant | T/C | snv | 0.19 | 1 | ||||
rs1325863623 | 6 | 2953175 | missense variant | C/T | snv | 4.0E-06 | 1 | ||||
rs1316569885 | 10 | 95399139 | missense variant | C/T | snv | 4.0E-06 | 7.0E-06 | 1 | |||
rs200192581 | 10 | 95381729 | missense variant | C/T | snv | 8.0E-06 | 7.0E-06 | 1 | |||
rs778438430 | 10 | 95381747 | missense variant | C/T | snv | 1.6E-05 | 2.8E-05 | 1 | |||
rs779770523 | 10 | 95432543 | missense variant | C/G;T | snv | 1.2E-05; 4.0E-06 | 1 | ||||
rs781314841 | 10 | 95341566 | missense variant | C/T | snv | 4.4E-05 | 2.8E-05 | 1 | |||
rs4849133 | 2 | 112923864 | downstream gene variant | C/A;T | snv | 2 | |||||
rs762623 | 1.000 | 0.160 | 6 | 36677689 | non coding transcript exon variant | G/A | snv | 0.12 | 2 | ||
rs121434622 | 1.000 | 0.080 | X | 147936534 | missense variant | T/A | snv | 2 | |||
rs56163822 | 1.000 | 0.080 | 12 | 100493323 | 5 prime UTR variant | G/T | snv | 4.7E-02 | 2.8E-02 | 2 | |
rs757533393 | 1.000 | 20 | 32216664 | missense variant | C/G;T | snv | 1.2E-05 | 2 | |||
rs1371149614 | 1.000 | 0.040 | 17 | 7630488 | missense variant | G/C | snv | 4.0E-06 | 2 | ||
rs111200466 | 1.000 | 0.080 | 4 | 153684312 | 5 prime UTR variant | CGGCTGCTCGGCGTTCTCTCAGG/- | delins | 0.17 | 2 | ||
rs1420111973 | 1.000 | 0.080 | 9 | 117712527 | synonymous variant | T/C | snv | 7.0E-06 | 2 | ||
rs7248668 | 0.925 | 0.080 | 19 | 39253181 | upstream gene variant | G/A | snv | 0.16 | 3 | ||
rs11881222 | 0.925 | 0.080 | 19 | 39244283 | intron variant | A/G | snv | 0.30 | 3 |