Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs751213196 | 1.000 | 0.120 | 4 | 1805602 | missense variant | G/A;T | snv | 1.2E-05; 4.0E-06 | 1 | ||
rs1448843898 | 1.000 | 0.120 | 4 | 1805608 | missense variant | G/A;T | snv | 4.0E-06; 4.0E-06 | 1 | ||
rs80053154 | 0.925 | 0.120 | 4 | 1805636 | missense variant | A/G | snv | 1.2E-05 | 7.0E-06 | 2 | |
rs1211533350 | 0.827 | 0.120 | 4 | 1805638 | synonymous variant | C/A | snv | 4.0E-06 | 7.0E-06 | 5 | |
rs28933068 | 0.645 | 0.560 | 4 | 1805644 | missense variant | C/A;G;T | snv | 1.6E-05 | 30 | ||
rs201151136 | 1.000 | 0.120 | 8 | 19458486 | missense variant | T/C | snv | 1.4E-04 | 1.2E-04 | 1 | |
rs121918010 | 0.827 | 0.200 | 1 | 21573781 | missense variant | T/C | snv | 7.2E-05 | 4.2E-05 | 5 | |
rs151241066 | 1.000 | 0.120 | 1 | 220143003 | missense variant | G/A | snv | 2.0E-05 | 3.5E-05 | 1 | |
rs180177456 | 0.925 | 0.160 | 1 | 247424426 | missense variant | G/A | snv | 2 | |||
rs122460151 | 0.851 | 0.280 | X | 2958423 | missense variant | C/G | snv | 7.1E-05 | 3.8E-05 | 5 | |
rs587779349 | 0.776 | 0.280 | 13 | 32380040 | frameshift variant | C/- | delins | 8 | |||
rs1314542724 | 0.925 | 0.120 | 9 | 35805595 | missense variant | C/T | snv | 2 | |||
rs372703574 | 0.851 | 0.160 | 20 | 38146858 | missense variant | G/A | snv | 4.8E-05 | 6.3E-05 | 4 | |
rs770627276 | 1.000 | 0.120 | 2 | 39120412 | missense variant | T/C | snv | 2 | |||
rs1555545033 | 0.807 | 0.160 | 17 | 40088306 | missense variant | C/T | snv | 7 | |||
rs557914261 | 0.925 | 0.160 | 19 | 40458393 | missense variant | G/A | snv | 2.8E-05 | 3 | ||
rs1218653273 | 0.925 | 0.160 | 17 | 42292005 | missense variant | C/T | snv | 4.0E-06 | 3 | ||
rs75028043 | 1.000 | 0.120 | 5 | 42688959 | missense variant | C/T | snv | 2.1E-04 | 2.1E-05 | 1 | |
rs114025919 | 1.000 | 0.120 | 5 | 42688992 | missense variant | G/T | snv | 3.0E-04 | 1.1E-03 | 1 | |
rs1179060441 | 1.000 | 0.120 | 5 | 42694934 | missense variant | C/T | snv | 8.1E-06 | 1 | ||
rs577421663 | 1.000 | 0.120 | 5 | 42695051 | missense variant | G/A | snv | 2.0E-05 | 9.8E-05 | 1 | |
rs121909362 | 0.827 | 0.160 | 5 | 42699919 | missense variant | C/T | snv | 3.9E-03 | 4.1E-03 | 5 | |
rs886037910 | 0.925 | 0.160 | 5 | 42699943 | missense variant | T/C | snv | 2 | |||
rs540473875 | 1.000 | 0.120 | 5 | 42718502 | missense variant | A/G | snv | 4.1E-04 | 4.2E-05 | 1 | |
rs137853092 | 0.851 | 0.240 | 17 | 42787494 | missense variant | C/G | snv | 5 |