Rs28933979

rs28933979, also known as V30M, V50M, Val30Met, Val50Met and 148G>A, is a mutation in the transthyretin TTR gene.

The risk allele for this SNP, rs28933979(A), is considered causative for TTR-related familial amyloid polyneuropathy, with the majority of carriers developing the condition by the time they are 80, although the age of onset varies. This mutation is reported to be more common in Portugal as well as Sweden and Japan.