Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs1217691063 | 0.330 | 0.920 | 1 | 11796309 | missense variant | A/G | snv | 4.0E-06 | 7.0E-06 | 614 | |
rs397507444 | 0.405 | 0.880 | 1 | 11794407 | missense variant | T/G | snv | 306 | |||
rs3480 | 0.807 | 0.160 | 1 | 32862564 | 3 prime UTR variant | G/A | snv | 0.56 | 8 | ||
rs903361 | 0.882 | 0.160 | 1 | 203122146 | intron variant | G/A;C | snv | 4 | |||
rs12743824 | 0.925 | 0.040 | 1 | 99317401 | intergenic variant | C/A | snv | 0.48 | 2 | ||
rs1260326 | 0.645 | 0.600 | 2 | 27508073 | missense variant | T/C;G | snv | 0.63; 4.0E-06 | 0.68 | 81 | |
rs780094 | 0.658 | 0.400 | 2 | 27518370 | intron variant | T/C | snv | 0.67 | 62 | ||
rs2228530 | 1.000 | 2 | 28778825 | missense variant | A/C;G | snv | 1 | ||||
rs4674344 | 1.000 | 2 | 218805152 | intron variant | A/T | snv | 0.53 | 1 | |||
rs951599607 | 0.925 | 0.040 | 3 | 12434028 | missense variant | G/A | snv | 4 | |||
rs72563732 | 0.882 | 0.040 | 3 | 186854563 | synonymous variant | C/T | snv | 6.4E-05 | 2.6E-04 | 3 | |
rs7643645 | 0.882 | 0.080 | 3 | 119806650 | intron variant | A/G | snv | 0.31 | 3 | ||
rs8192678 | 0.667 | 0.440 | 4 | 23814039 | missense variant | C/T | snv | 0.31 | 0.26 | 28 | |
rs72613567 | 0.742 | 0.320 | 4 | 87310240 | splice donor variant | -/A | delins | 0.22 | 14 | ||
rs2290602 | 0.882 | 0.040 | 4 | 23824109 | intron variant | T/A;G | snv | 3 | |||
rs17107315 | 0.620 | 0.440 | 5 | 147828115 | missense variant | T/C | snv | 9.1E-03 | 8.2E-03 | 40 | |
rs1800562 | 0.435 | 0.880 | 6 | 26092913 | missense variant | G/A | snv | 3.3E-02 | 3.8E-02 | 262 | |
rs1799945 | 0.452 | 0.760 | 6 | 26090951 | missense variant | C/G;T | snv | 0.11 | 0.10 | 226 | |
rs4880 | 0.500 | 0.840 | 6 | 159692840 | missense variant | A/G | snv | 0.48 | 0.47 | 131 | |
rs2070600 | 0.561 | 0.760 | 6 | 32183666 | missense variant | C/T | snv | 5.3E-02 | 3.6E-02 | 82 | |
rs1800624 | 0.658 | 0.480 | 6 | 32184610 | upstream gene variant | A/G;T | snv | 33 | |||
rs1572982 | 0.827 | 0.200 | 6 | 26094139 | intron variant | G/A;T | snv | 0.52; 8.0E-06 | 7 | ||
rs2071303 | 0.882 | 0.120 | 6 | 26091108 | splice region variant | T/C | snv | 0.38 | 0.36 | 6 | |
rs10499563 | 0.807 | 0.120 | 7 | 22720869 | intron variant | T/C | snv | 0.21 | 7 | ||
rs2126259 | 1.000 | 8 | 9327636 | intron variant | T/C | snv | 0.87 | 9 |