Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs11568023 | 1 | 230712433 | intron variant | G/A;T | snv | 1 | |||||
rs373721390 | 1 | 156114996 | synonymous variant | C/T | snv | 2.2E-05 | 2.8E-05 | 1 | |||
rs376970496 | 15 | 69028303 | missense variant | T/C | snv | 1 | |||||
rs1904694 | 10 | 51145734 | intron variant | A/G | snv | 0.45 | 1 | ||||
rs11549029 | 19 | 35756950 | missense variant | G/A | snv | 8.9E-04 | 1.3E-03 | 1 | |||
rs397515126 | 16 | 2084306 | frameshift variant | -/TCTCCTCG | delins | 1 | |||||
rs3211892 | 1.000 | 0.080 | 7 | 80661053 | intron variant | A/G | snv | 0.97 | 0.92 | 2 | |
rs3853601 | 1.000 | 0.080 | 6 | 31531826 | intron variant | C/G | snv | 0.13 | 2 | ||
rs2968857 | 1.000 | 0.080 | 7 | 150965242 | intron variant | C/T | snv | 0.70 | 2 | ||
rs199472968 | 0.925 | 0.120 | 7 | 150951484 | missense variant | C/T | snv | 3 | |||
rs139794067 | 0.925 | 0.080 | 3 | 46860813 | missense variant | G/A;C;T | snv | 7.2E-05; 1.7E-04 | 3 | ||
rs28935490 | 1.000 | 0.160 | X | 101398432 | missense variant | C/A;T | snv | 3.0E-03; 5.4E-06 | 3 | ||
rs121909298 | 0.925 | 0.040 | 5 | 156595000 | missense variant | T/G | snv | 2.0E-04 | 1.3E-04 | 4 | |
rs148398509 | 0.882 | 0.160 | 15 | 73323445 | missense variant | G/C | snv | 7.8E-03 | 7.2E-03 | 5 | |
rs763802417 | 0.882 | 0.040 | X | 100862805 | missense variant | G/A | snv | 5.9E-06 | 5 | ||
rs1064794243 | 0.851 | 0.200 | 17 | 63941169 | missense variant | A/T | snv | 5 | |||
rs137854602 | 0.925 | 0.080 | 3 | 38555664 | missense variant | G/A | snv | 5.6E-05 | 1.4E-05 | 5 | |
rs137854607 | 0.882 | 0.120 | 3 | 38554309 | missense variant | C/G;T | snv | 5 | |||
rs41310765 | 0.882 | 0.120 | 3 | 38575424 | missense variant | G/A | snv | 1.4E-04 | 7.7E-05 | 5 | |
rs59270054 | 0.925 | 0.120 | 1 | 156115162 | missense variant | G/A;C | snv | 6 | |||
rs216311 | 0.882 | 0.040 | 12 | 6019277 | missense variant | T/A;C | snv | 4.0E-06; 0.69 | 7 | ||
rs532019808 | 0.827 | 0.120 | 11 | 89451807 | missense variant | G/A;C | snv | 4.0E-06; 4.0E-06 | 8 | ||
rs72546668 | 0.807 | 0.200 | 3 | 8745644 | missense variant | C/A;T | snv | 4.0E-06; 2.6E-03 | 8 | ||
rs9818870 | 0.807 | 0.200 | 3 | 138403280 | 3 prime UTR variant | C/A;T | snv | 9 | |||
rs58034145 | 0.827 | 0.160 | 1 | 156134830 | missense variant | A/C | snv | 10 |