Replies to post #142749 on Biotech Values

[biomaven0]

First, to be classified as a SNP, the change must be present in at least one percent of the general population. No known disease-causing mutation is this common

Looks like that statement needs an asterisk based on your observation.

Sickle cell is kind of sui generis though. It's clearly called a mutation rather than a SNP in common practice though, even though it literally is a single nucleotide polymorphism and is common in one population.

Peter

[genisi]

In the link I've posted a few days ago ( http://genome.wellcome.ac.uk/doc_WTD020780.html ), there's an explanation on SCA. It is known and discussed in papers such as those mentioned in #msg-76009125 that rare genetic variants are frequently geographically localized to pockets around the globe rather than being widespread. If such variant has an advantage like resistance to malaria, then its frequency is very high due to selection in certain regions.