rs121965019
A SNP in the IDUA gene on chromosome 4. Its most notable genotype is A;G: Carrier of a mucopolysaccharidosis type 1 mutation
- Gene
- IDUA
- Location
- Chr 41,002,747 (GRCh38)
- Highest magnitude
- 3.0Important
- Tested on
- 23andMe, AncestryDNA
Genotypes
As shown in 23andMe and AncestryDNA files.
- A;GMost notableBadCarrier of a mucopolysaccharidosis type 1 mutation
- G;GGoodcommon in clinvar
On SNPedia: (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
Other IDUA SNPs
- rs758452450A;AMucopolysaccharidosis type 1Very important
- rs777295041G;GMucopolysaccharidosis type 1Very important
- rs121965021C;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.1205G>A (p.Trp402Ter or W402X) The W402X and Q70X (rs121965020) mutations are the most common Hurler syndrome mutations in most Caucasian populations studied.
A;G
Unaffected in absence of a second IDUA gene mutation
Source and license
Adapted from rs121965019 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 Its entries can be incomplete, out of date or wrong, and nothing here is a diagnosis or medical advice.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.