Rare Genetic Disorders: annotated variants, page 1 of 2
128 variants, 100 per page, sorted by gene. Each link opens the variant page with its genotype frequencies and references.
- rs60782127 (ABCC1)
- rs766432 (BCL11A)
- rs1427407 (BCL11A)
- rs4671393 (BCL11A)
- rs7606173 (BCL11A)
- rs11886868 (BCL11A)
- rs121913355 (BRAF)
- rs397508838 (BRCA1)
- rs28897743 (BRCA2)
- rs13078881 (BTD)
- rs80338777 (CACNA1S)
- rs74597325 (CFTR)
- rs75039782 (CFTR)
- rs75527207 (CFTR)
- rs75961395 (CFTR)
- rs76713772 (CFTR)
- rs77010898 (CFTR)
- rs77932196 (CFTR)
- rs78655421 (CFTR)
- rs80034486 (CFTR)
- rs80224560 (CFTR)
- rs113993958 (CFTR)
- rs113993959 (CFTR)
- rs121908755 (CFTR)
- rs121908757 (CFTR)
- rs121909011 (CFTR)
- rs193922525 (CFTR)
- rs1056836 (CYP1B1)
- rs3791679 (EFEMP1)
- rs17655 (ERCC5)
- rs1047768 (ERCC5)
- rs5030868 (G6PD)
- rs72554665 (G6PD)
- rs1800312 (GAA)
- rs28937909 (GAA)
- rs121907936 (GAA)
- rs121907937 (GAA)
- rs121907938 (GAA)
- rs121907940 (GAA)
- rs121907942 (GAA)
- rs121907943 (GAA)
- rs121907945 (GAA)
- rs140826989 (GAA)
- rs141533320 (GAA)
- rs142752477 (GAA)
- rs200483245 (GAA)
- rs201896815 (GAA)
- rs370950728 (GAA)
- rs374470794 (GAA)
- rs376229714 (GAA)
- rs398123169 (GAA)
- rs536906561 (GAA)
- rs750214208 (GAA)
- rs752921215 (GAA)
- rs755253527 (GAA)
- rs757617999 (GAA)
- rs757700700 (GAA)
- rs765718882 (GAA)
- rs766074609 (GAA)
- rs766680292 (GAA)
- rs767409395 (GAA)
- rs770590394 (GAA)
- rs770610356 (GAA)
- rs772883420 (GAA)
- rs773417785 (GAA)
- rs779556619 (GAA)
- rs780321415 (GAA)
- rs786204614 (GAA)
- rs786204720 (GAA)
- rs892129065 (GAA)
- rs991082382 (GAA)
- rs1011631903 (GAA)
- rs1057516426 (GAA)
- rs1064794288 (GAA)
- rs1064796703 (GAA)
- rs1294428728 (GAA)
- rs1064651 (GBA)
- rs6065 (GP1BA)
- rs33915217 (HBB)
- rs104894229 (HRAS)
- rs112445441 (KRAS)
- rs9376092 (LOC105378010)
- rs66550389 (OTC)
- rs66642398 (OTC)
- rs66656800 (OTC)
- rs66724222 (OTC)
- rs67077695 (OTC)
- rs67120076 (OTC)
- rs67414444 (OTC)
- rs68026851 (OTC)
- rs68031618 (OTC)
- rs68170503 (OTC)
- rs72552296 (OTC)
- rs72552300 (OTC)
- rs72554308 (OTC)
- rs72554326 (OTC)
- rs72554332 (OTC)
- rs72556259 (OTC)
- rs72556278 (OTC)
- rs72556284 (OTC)