rs121965021
A SNP in the IDUA gene on chromosome 4. Its most notable genotype is C;G: Carrier of a mucopolysaccharidosis type 1 mutation
- Gene
- IDUA
- Location
- Chr 41,003,418 (GRCh38)
- Highest magnitude
- 3.0Important
- Tested on
- AncestryDNA
Genotypes
As shown in 23andMe and AncestryDNA files.
- C;CGoodcommon in clinvar
- C;GMost notableBadCarrier of a mucopolysaccharidosis type 1 mutation
On SNPedia: (C;C), (C;G). Magnitude rates how notable a genotype is from 0 to 10, not how risky it is.
Related
Other IDUA SNPs
- rs758452450A;AMucopolysaccharidosis type 1Very important
- rs777295041G;GMucopolysaccharidosis type 1Very important
- rs121965019A;GCarrier of a mucopolysaccharidosis type 1 mutationImportant
- rs121965023C;TCarrier of a mucopolysaccharidosis type 1 mutationImportant
- rs121965024A;CCarrier of a mucopolysaccharidosis type 1 mutationImportant
- rs121965027C;CLikely miscall if from Ancestry or FamilyTreeDNA/FTDNA data; otherwise, Hurler syndrome mutation(s)Important
- rs121965031C;TCarrier of a mucopolysaccharidosis type 1 mutationImportant
- rs121965032C;TCarrier of a mucopolysaccharidosis type 1 mutationImportant
Notes
From SNPedia
Notes
aka c.1598C>T (p.Pro533Leu or P533L)
C;G
Unaffected in absence of a second IDUA gene mutation
Source and license
Adapted from rs121965021 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 Its entries can be incomplete, out of date or wrong, and nothing here is a diagnosis or medical advice.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.