rs61750420
A SNP in the PEX1 gene on chromosome 7. Its most notable genotype is T;T: peroxisomal biogenesis disorder (Zellweger) allele
- Gene
- PEX1
- Location
- Chr 792,501,562 (GRCh38)
- Highest magnitude
- 5.0Very important
- Tested on
- 23andMe, AncestryDNA
Genotypes
Plus strand, as in 23andMe and AncestryDNA files.
- T;TMost notableBadperoxisomal biogenesis disorder (Zellweger) allele
- C;TBadcarrier of peroxisomal biogenesis disorder (Zellweger) allele
- C;CGoodcommon in clinvar
SNPedia records rs61750420 on the minus strand: (A;A), (A;G), (G;G). Magnitude rates how notable a genotype is from 0 to 10, not how risky it is.
Related
Conditions, medicines and genes
Notes
From SNPedia
Notes
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).
Source and license
Adapted from rs61750420 on SNPedia, using a snapshot taken October 16, 2026. SNPedia content is shared under CC BY-NC-SA 3.0 US, and this page is shared under the same license.
SNPedia is a community-edited wiki. Its entries can be incomplete, out of date or wrong, and nothing here is a diagnosis or medical advice. Magnitude is a community rating of how interesting a genotype is, not a risk score.