Fanconi anemia
From SNPedia
Fanconi anemia Wikipedia is an inherited disorder that occurs more often among Ashkenazi Jews than in most other groups; about 1 percent of individuals in this population are carriers. Mutations in at least 13 different genes are known to cause this disease in children who inherit two copies, one from each parent. Carriers are not affected.
Public databases (e.g. dbSNP and OMIM) currently contain very few SNPs known to correspond to Fanconi anemia mutations.
23andMe currently tests for the following genetic variations in 1 of the 13 genes that cause Fanconi anemia, FANCC:
- rs104886456 or i4000336, also known as IVS4+4A>T (risk genotype AA)
- rs104886457 or i4000412, also known as R548X (risk genotype AA)
- rs104886459 or i4000413, also known as 322delG (risk genotype is a double deletion)
