Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs13438494 | 1.000 | 0.040 | 7 | 82759398 | intron variant | T/G | snv | 0.61 | 6 | ||
rs1561515242 | 1.000 | 0.080 | 5 | 111482938 | splice donor variant | G/A | snv | 6 | |||
rs1554776954 | 1.000 | 9 | 127661133 | frameshift variant | A/- | delins | 5 | ||||
rs1133503 | 1.000 | 0.040 | 6 | 95606712 | 3 prime UTR variant | C/G;T | snv | 4 | |||
rs1554121671 | 1.000 | 6 | 33440746 | frameshift variant | -/AGGA | delins | 4 | ||||
rs1555103646 | 1.000 | 0.040 | 12 | 13569964 | missense variant | C/A | snv | 4 | |||
rs279826 | 1.000 | 0.080 | 4 | 46332192 | intron variant | A/G | snv | 0.46 | 4 | ||
rs2074898 | 1.000 | 0.040 | 19 | 1391362 | intron variant | A/C;G | snv | 3 | |||
rs2400707 | 1.000 | 0.040 | 5 | 148825489 | 5 prime UTR variant | A/G;T | snv | 3 | |||
rs3915512 | 1.000 | 0.040 | 3 | 197295369 | intron variant | A/G;T | snv | 3 | |||
rs121964849 | 1.000 | 0.120 | 12 | 6869741 | missense variant | A/G | snv | 2 | |||
rs1224426272 | 0.925 | 0.040 | 12 | 119869138 | missense variant | C/T | snv | 6 | |||
rs12936511 | 0.925 | 0.080 | 17 | 45807036 | synonymous variant | C/T | snv | 3.1E-02 | 3.0E-02 | 5 | |
rs104894127 | 0.925 | 0.080 | 9 | 35685750 | missense variant | G/C | snv | 4 | |||
rs1059004 | 0.925 | 0.040 | 21 | 33028155 | 3 prime UTR variant | C/A | snv | 0.41 | 4 | ||
rs121918805 | 0.925 | 0.080 | 2 | 166002660 | missense variant | C/A;T | snv | 2.0E-05 | 4 | ||
rs2144025 | 0.925 | 0.080 | 6 | 151986571 | intron variant | T/A;C | snv | 4 | |||
rs4916723 | 0.925 | 0.040 | 5 | 88558577 | intron variant | A/C;G;T | snv | 4 | |||
rs137853208 | 0.925 | 0.080 | 7 | 50504025 | missense variant | G/A | snv | 3 | |||
rs373288445 | 0.925 | 0.080 | 1 | 231694534 | missense variant | C/T | snv | 5.6E-05 | 4.2E-05 | 3 | |
rs773758385 | 0.925 | 0.080 | 1 | 231694162 | missense variant | C/T | snv | 1.0E-04 | 3.5E-05 | 3 | |
rs1060503383 | 0.882 | 0.200 | 6 | 33441318 | stop gained | C/T | snv | 14 | |||
rs1555103652 | 0.882 | 0.240 | 12 | 13569973 | missense variant | A/C | snv | 11 | |||
rs886041097 | 0.882 | 0.160 | 4 | 139386152 | stop gained | C/G | snv | 9 | |||
rs120074125 | 0.882 | 0.160 | 11 | 6393301 | missense variant | T/G | snv | 4.0E-06 | 7 |