Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs1045642 | 0.456 | 0.840 | 7 | 87509329 | synonymous variant | A/G;T | snv | 0.50 | 214 | ||
rs2032582 | 0.538 | 0.800 | 7 | 87531302 | missense variant | A/C;T | snv | 0.54; 3.8E-02 | 97 | ||
rs1799971 | 0.559 | 0.600 | 6 | 154039662 | missense variant | A/G | snv | 0.19 | 0.12 | 95 | |
rs1163944538 | 0.641 | 0.560 | 17 | 75494905 | frameshift variant | -/A | delins | 4.0E-06 | 73 | ||
rs1352010373 | 0.641 | 0.560 | 17 | 75489265 | splice acceptor variant | G/C | snv | 73 | |||
rs61755320 | 0.716 | 0.520 | 16 | 89546737 | missense variant | C/T | snv | 2.9E-03 | 3.5E-03 | 41 | |
rs28937900 | 0.752 | 0.160 | 19 | 46756276 | missense variant | C/A;T | snv | 1.0E-03 | 37 | ||
rs151344517 | 0.742 | 0.320 | 18 | 12337505 | missense variant | C/T | snv | 31 | |||
rs1555735545 | 0.851 | 0.160 | 19 | 46746071 | 5 prime UTR variant | G/A | snv | 22 | |||
rs397507478 | 0.790 | 0.440 | 7 | 140777014 | missense variant | C/A | snv | 12 | |||
rs972936 | 0.807 | 0.200 | 12 | 102431143 | intron variant | T/C | snv | 0.70 | 12 | ||
rs797045032 | 0.827 | 0.280 | 7 | 143321720 | missense variant | GG/TC | mnv | 11 | |||
rs121912683 | 0.851 | 0.200 | 4 | 185145020 | missense variant | C/A | snv | 4.0E-06 | 7.0E-06 | 9 | |
rs7136446 | 0.882 | 0.160 | 12 | 102444737 | intron variant | C/T | snv | 0.66 | 8 | ||
rs121908216 | 0.882 | 0.200 | 19 | 13235702 | missense variant | C/T | snv | 7 | |||
rs1048101 | 0.882 | 0.120 | 8 | 26770511 | missense variant | A/G | snv | 0.52 | 0.56 | 5 | |
rs2053044 | 1.000 | 0.040 | 5 | 148825809 | 5 prime UTR variant | A/G | snv | 0.59 | 5 | ||
rs5574 | 0.882 | 0.200 | 7 | 24289514 | synonymous variant | C/T | snv | 0.43 | 0.43 | 5 | |
rs796053124 | 0.882 | 0.080 | 2 | 165354232 | missense variant | G/T | snv | 4 | |||
rs3743077 | 1.000 | 0.040 | 15 | 78602554 | intron variant | C/T | snv | 0.31 | 3 | ||
rs77485247 | 0.925 | 0.080 | 18 | 24460578 | upstream gene variant | T/A | snv | 3 | |||
rs144948296 | 0.925 | 0.120 | 15 | 43604750 | stop gained | G/A;C | snv | 1.8E-04 | 3 | ||
rs16979956 | X | 15525068 | intron variant | C/T | snv | 4.0E-04 | 2 | ||||
rs35697037 | X | 15523993 | intron variant | G/A | snv | 0.37 | 2 | ||||
rs2304297 | 8 | 42753056 | 3 prime UTR variant | G/C | snv | 0.39 | 2 |