Welcome to Genomic Explorer! In 2014, I took the 23andme test to see if I had the MTHFR mutations and have been exploring my genome ever since. No significant MTHFR mutation was discovered in my genome (as of yet!) but the search for other mutations ensued. The purpose of this blog is to provide information about interesting SNPs (single nucleotide polymorphisms) in 23andme raw data. Note that just because I mention it does not mean I have the mutation myself.
First things first, here's an interesting SNP...
rs2272783 is a mutation in the FECH (ferrochelatase) gene. Being heterozygous for the minor allele reduces the expression of the gene. Being heterozygous in this SNP and also having a loss of function mutation in the same gene can cause one to have a terrible genetic disease, erythropoietic protoporphyria! Photosensitivity and sensitivity to some forms of artificial light is the result. Thanks mom or dad! Considering the rarity of other genetic mutations this particular mutation is rather common with the minor allele frequency (MAF) of 0.1374.
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