Rs61750420

rs61750420, also known as G843D or Gly843Asp, is a SNP in the peroxisomal biogenesis factor 1 PEX1 gene.

The risk allele for this SNP, rs61750420(A), is perhaps the most common PEX1 mutation in those of European ancestry, and it is linked to peroxisome biogenesis disorders such as NALD, IRD, and Zellweger syndrome, including peroxisome biogenesis disorders of complementation group 1. Note that the equivalent SNP for 23andMe, i5012688, is on the opposite strand of rs61750420 and so the risk allele for i5012688 is (T).