Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs1418810723 | 0.851 | 0.080 | 2 | 215409981 | missense variant | A/T | snv | 8.0E-06 | 9 | ||
rs1443434 | 0.851 | 0.080 | 9 | 97855197 | 3 prime UTR variant | G/T | snv | 0.63 | 4 | ||
rs71369530 | 0.851 | 0.080 | 9 | 97854419 | inframe insertion | GCCGCCGCCGCCGCCGCCGCCGCC/-;GCC;GCCGCC;GCCGCCGCC;GCCGCCGCCGCC;GCCGCCGCCGCCGCC;GCCGCCGCCGCCGCCGCC;GCCGCCGCCGCCGCCGCCGCC;GCCGCCGCCGCCGCCGCCGCCGCCGCC;GCCGCCGCCGCCGCCGCCGCCGCCGCCGCC;GCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCC;GCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCC;GCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCC | delins | 0.68 | 4 | ||
rs1031583860 | 0.882 | 0.080 | 11 | 58709815 | missense variant | T/C | snv | 3 | |||
rs78201625 | 0.851 | 0.080 | 10 | 113577182 | missense variant | C/T | snv | 2.4E-03 | 1.8E-03 | 4 | |
rs7080536 | 0.683 | 0.360 | 10 | 113588287 | missense variant | G/A | snv | 2.2E-02 | 2.4E-02 | 27 | |
rs763538721 | 0.807 | 0.160 | 14 | 61740897 | missense variant | T/A | snv | 4.0E-06 | 8 | ||
rs187238 | 0.602 | 0.680 | 11 | 112164265 | intron variant | C/A;G | snv | 48 | |||
rs1946518 | 0.602 | 0.760 | 11 | 112164735 | intron variant | T/G | snv | 0.60 | 46 | ||
rs360718 | 0.827 | 0.120 | 11 | 112164016 | 5 prime UTR variant | A/C | snv | 0.26 | 5 | ||
rs1946519 | 0.851 | 0.120 | 11 | 112164784 | intron variant | A/C | snv | 0.60 | 4 | ||
rs360717 | 0.851 | 0.080 | 11 | 112164002 | 5 prime UTR variant | G/A | snv | 0.25 | 4 | ||
rs3783521 | 0.807 | 0.200 | 2 | 112786000 | upstream gene variant | G/A | snv | 0.26 | 8 | ||
rs1143623 | 0.677 | 0.440 | 2 | 112838252 | upstream gene variant | C/G | snv | 0.24 | 29 | ||
rs3917225 | 0.807 | 0.160 | 2 | 102152842 | intron variant | A/G | snv | 0.36 | 6 | ||
rs11674595 | 0.763 | 0.200 | 2 | 101994530 | intron variant | T/C | snv | 0.22 | 13 | ||
rs2072472 | 0.732 | 0.200 | 2 | 102026557 | intron variant | A/G | snv | 0.24 | 13 | ||
rs4833837 | 0.827 | 0.200 | 4 | 122615808 | synonymous variant | G/A | snv | 0.74 | 0.77 | 5 | |
rs12508721 | 0.742 | 0.360 | 4 | 122623509 | intron variant | C/T | snv | 0.24 | 11 | ||
rs2221903 | 0.752 | 0.360 | 4 | 122617757 | intron variant | C/T | snv | 0.77 | 12 | ||
rs13143866 | 0.851 | 0.200 | 4 | 122619603 | intron variant | G/A | snv | 0.24 | 4 | ||
rs861539 | 0.519 | 0.680 | 14 | 103699416 | missense variant | G/A | snv | 0.29 | 0.30 | 104 | |
rs7037324 | 0.882 | 0.080 | 9 | 97896036 | regulatory region variant | A/G | snv | 0.71 | 3 | ||
rs1297812518 | 0.763 | 0.160 | 14 | 103707168 | missense variant | G/A | snv | 1.3E-05 | 1.4E-05 | 9 | |
rs861530 | 0.732 | 0.320 | 14 | 103707786 | 3 prime UTR variant | T/C | snv | 0.65 | 13 |