Have questions? Visit https://www.reddit.com/r/SNPedia

Diamond-Blackfan anemia

From SNPedia

At a minimum, these SNPs are known to be related, and others may also be

 Max Magnitude

Diamond-Blackfan anemia, originally known as congenital hypoplastic anemia, is a rare, dominantly inherited bone marrow failure syndrome. It is estimated to occur in 1 out of 100,000 births, and arises primarily from mutations in certain ribosomal protein genes.GHR

A 2018 review of the genetics of Diamond-Blackfan anemia (DBA) summarized the genes known to potentially harbor causative mutations as follows [PMID 30503522]: