Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs145204276 | 0.658 | 0.320 | 1 | 173868254 | splice donor variant | CAAGG/- | delins | 8.8E-02 | 31 | ||
rs2227983 | 0.658 | 0.520 | 7 | 55161562 | missense variant | G/A;C;T | snv | 0.29 | 31 | ||
rs79658334 | 0.662 | 0.360 | 10 | 43119548 | missense variant | G/A;C;T | snv | 1.2E-04; 4.3E-06 | 29 | ||
rs1058808 | 0.658 | 0.360 | 17 | 39727784 | missense variant | C/G | snv | 0.61 | 0.52 | 27 | |
rs531564 | 0.672 | 0.480 | 8 | 9903189 | non coding transcript exon variant | G/C | snv | 0.14 | 27 | ||
rs1801270 | 0.689 | 0.400 | 6 | 36684194 | missense variant | C/A;T | snv | 0.15; 4.4E-05 | 22 | ||
rs3798577 | 0.742 | 0.320 | 6 | 152099995 | 3 prime UTR variant | T/C | snv | 0.45 | 16 | ||
rs56391007 | 0.752 | 0.200 | 7 | 116771936 | missense variant | C/T | snv | 7.9E-03 | 9.0E-03 | 16 | |
rs3741219 | 0.776 | 0.280 | 11 | 1995389 | non coding transcript exon variant | A/G | snv | 0.42 | 10 | ||
rs11801299 | 0.807 | 0.200 | 1 | 204559956 | downstream gene variant | G/A | snv | 0.16 | 9 | ||
rs1213469537 | 0.882 | 0.080 | 7 | 116559145 | missense variant | C/T | snv | 4.0E-06 | 1.4E-05 | 9 | |
rs11662595 | 0.882 | 0.120 | 18 | 24477006 | missense variant | A/G | snv | 8.6E-02 | 7.6E-02 | 7 | |
rs80358829 | 0.827 | 0.120 | 13 | 32340327 | missense variant | C/T | snv | 6 | |||
rs1114167628 | 0.925 | 0.080 | 10 | 87961033 | stop gained | -/ATATCTAG | delins | 5 | |||
rs1056123575 | 0.925 | 0.080 | 21 | 26844557 | missense variant | G/A | snv | 4.2E-06 | 7.0E-06 | 4 | |
rs1172398253 | 0.925 | 0.080 | 1 | 85582045 | missense variant | C/T | snv | 4.0E-06 | 4 | ||
rs141613848 | 0.925 | 0.080 | 17 | 74768481 | missense variant | A/T | snv | 1.0E-03 | 1.2E-03 | 4 | |
rs376066276 | 0.925 | 0.080 | 11 | 4390219 | missense variant | C/A;T | snv | 4.0E-06; 8.0E-06 | 4 | ||
rs868257011 | 0.925 | 0.080 | 10 | 87961042 | frameshift variant | TACTT/- | del | 4 |