If you tested your DNA with a personal genomics service like 23andMe, DeCODEme, FTDNA's Family Finder or another testing company, you can learn more about your risk factors for hundreds of diseases. Many of these SNP's are tested but not (yet) part of the report provided by personal genomics companies. This is free extra information.
We recommend that you install the SNPTips add-on for Mozilla Firefox to browse these pages. It allows you to upload your DNA results in the browser and show instantly which allele variant you have for each of the SNP listed below.
List of genetic diseases with associated genes and SNP's
Risk alleles : Genetic diseases are by deninition caused by genetic mutations, insertions or deletions. A person can there either have the disease (affected), lack the disease (variant absent) or be a carrier of the disease (marked with a *) if it is recessive (must inherit the mutation from both parents to have the disease). For some diseases, other alleles can influence the onset or severity of the disease in affected people (later onset/less severe or earlier onset/more severe). Sometimes carrying one affected allele can lead to a partial or minor expression of the disease (like for G6PD deficiency or haemochromatosis).
Depending on the testing company, sometimes A is reported as T, and G is reported as C, or vice-versa.
Testing companies :
A = 23andMe (all versions) ; A2* = 23andMe (v2 only) ; A2 = 23andMe (v2 & v3) ; A3 = 23andMe (v3 only)
B = DeCODEme C = Family Tree DNA Family Finder (all versions) ; C1 (v1 only) ; C2 (v2 only)
Bold letters indicate that the SNP is part of the official report, and is therefore likely to be more reliable. Only SNP's in the official report are listed for deCODEme.