Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs233575 | X | 15564843 | intron variant | G/A | snv | 1 | |||||
rs4646142 | X | 15584941 | intron variant | G/A;C | snv | 1 | |||||
rs11542035 | 19 | 44908706 | missense variant | G/A | snv | 1.9E-05 | 2.8E-05 | 1 | |||
rs10488699 | 11 | 116761784 | intron variant | C/T | snv | 1.0E-01 | 1 | ||||
rs7003945 | 8 | 144326802 | 5 prime UTR variant | G/A;C | snv | 1 | |||||
rs3060 | 11 | 75800527 | 3 prime UTR variant | T/C | snv | 0.14 | 0.22 | 1 | |||
rs66698963 | 11 | 61835025 | intron variant | ACTTCTCCCTGCCTCCCCAGGGACTTCTCCCTGCCTCCCCAGGG/-;ACTTCTCCCTGCCTCCCCAGGG | delins | 0.56 | 1 | ||||
rs770730728 | 7 | 44147757 | synonymous variant | G/A | snv | 4.0E-06 | 7.0E-06 | 1 | |||
rs730882087 | 19 | 11106640 | missense variant | GG/AC | mnv | 1 | |||||
rs1121923 | 8 | 19951924 | synonymous variant | G/A | snv | 3.3E-02 | 5.6E-02 | 1 | |||
rs2229268 | 2 | 169168573 | synonymous variant | A/G | snv | 0.20 | 0.16 | 1 | |||
rs217428 | 7 | 44515974 | intron variant | T/G | snv | 0.21 | 0.26 | 1 | |||
rs217434 | 7 | 44513639 | synonymous variant | A/G | snv | 0.16 | 0.17 | 1 | |||
rs751671151 | 8 | 42180286 | missense variant | A/G | snv | 4.0E-06 | 1.4E-05 | 1 | |||
rs12363280 | 11 | 231980 | intron variant | C/A;G | snv | 1 | |||||
rs1430583 | 4 | 140565830 | intron variant | C/T | snv | 0.20 | 1 | ||||
rs1685354 | 11 | 74002546 | intron variant | A/G | snv | 0.30 | 1 | ||||
rs2075294 | 11 | 116787406 | intron variant | G/T | snv | 3.5E-02 | 1 | ||||
rs11774572 | 1.000 | 0.040 | 8 | 11589291 | regulatory region variant | C/G;T | snv | 2 | |||
rs1263163 | 11 | 116802796 | intergenic variant | G/A | snv | 0.10 | 2 | ||||
rs4149339 | 1.000 | 0.040 | 9 | 104782875 | 3 prime UTR variant | G/A | snv | 0.32 | 2 | ||
rs4743763 | 1.000 | 0.040 | 9 | 104830901 | intron variant | A/C;T | snv | 0.36 | 2 | ||
rs1978124 | X | 15599940 | intron variant | T/A;C | snv | 2 | |||||
rs4646156 | X | 15578920 | intron variant | A/T | snv | 2 | |||||
rs5069 | 1.000 | 0.080 | 11 | 116837538 | 5 prime UTR variant | G/A | snv | 0.11 | 2 |