Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs104893877 | 0.614 | 0.360 | 4 | 89828149 | missense variant | C/T | snv | 59 | |||
rs104894396 | 0.672 | 0.400 | 13 | 20189511 | stop gained | C/T | snv | 5.8E-04 | 1.1E-04 | 28 | |
rs11136000 | 0.752 | 0.160 | 8 | 27607002 | intron variant | T/C | snv | 0.56 | 19 | ||
rs11142387 | 9 | 70383416 | downstream gene variant | A/C | snv | 0.49 | 7 | ||||
rs1163944538 | 0.641 | 0.560 | 17 | 75494905 | frameshift variant | -/A | delins | 4.0E-06 | 73 | ||
rs12273363 | 0.807 | 0.120 | 11 | 27723312 | intron variant | T/C | snv | 0.16 | 11 | ||
rs1352010373 | 0.641 | 0.560 | 17 | 75489265 | splice acceptor variant | G/C | snv | 73 | |||
rs1397094538 | 0.925 | 0.120 | 1 | 23367044 | missense variant | A/T | snv | 4.0E-06 | 3 | ||
rs1411832 | 1.000 | 0.040 | 10 | 106126497 | intergenic variant | C/T | snv | 0.10 | 2 | ||
rs1424266770 | 0.790 | 0.200 | 4 | 184632307 | missense variant | C/G | snv | 8.0E-06 | 10 | ||
rs148881970 | 0.724 | 0.360 | 17 | 42543840 | missense variant | A/G | snv | 5.4E-05 | 1.3E-04 | 22 | |
rs1554317002 | 0.724 | 0.440 | 7 | 39950821 | frameshift variant | C/- | delins | 45 | |||
rs1555735545 | 0.851 | 0.160 | 19 | 46746071 | 5 prime UTR variant | G/A | snv | 22 | |||
rs1556424691 | 0.851 | 0.200 | MT | 15923 | non coding transcript exon variant | A/G | snv | 13 | |||
rs17125721 | 0.763 | 0.120 | 14 | 73206470 | missense variant | A/G | snv | 1.5E-02 | 1.5E-02 | 14 | |
rs1799945 | 0.452 | 0.760 | 6 | 26090951 | missense variant | C/G;T | snv | 0.11 | 0.10 | 226 | |
rs1977412 | 0.882 | 0.160 | 1 | 230716523 | intron variant | T/A;C | snv | 5 | |||
rs2732260 | 0.882 | 0.200 | 8 | 33431749 | intron variant | G/A | snv | 8.4E-02 | 5 | ||
rs281865071 | 0.882 | 0.080 | 1 | 154571759 | missense variant | C/G;T | snv | 5 | |||
rs28937900 | 0.752 | 0.160 | 19 | 46756276 | missense variant | C/A;T | snv | 1.0E-03 | 37 | ||
rs370717845 | 0.763 | 0.320 | 8 | 43161462 | missense variant | G/A | snv | 33 | |||
rs3851179 | 0.752 | 0.280 | 11 | 86157598 | downstream gene variant | T/C | snv | 0.70 | 15 | ||
rs4680 | 0.442 | 0.920 | 22 | 19963748 | missense variant | G/A | snv | 0.46 | 0.44 | 249 | |
rs536551654 | 1.000 | 0.120 | 17 | 49511972 | missense variant | T/C | snv | 2 | |||
rs555145190 | 0.732 | 0.360 | 17 | 42543921 | stop gained | G/A;C;T | snv | 4.2E-06 | 21 |