rs758452450
A SNP in the IDUA gene on chromosome 4. Its most notable genotype is A;A: Mucopolysaccharidosis type 1
- Gene
- IDUA
- Location
- Chr 4987,873 (GRCh38)
- Highest magnitude
- 5.0Very important
- Tested on
- AncestryDNA
Genotypes
As shown in 23andMe and AncestryDNA files.
- A;AMost notableBadMucopolysaccharidosis type 1
- A;GBadCarrier of a mucopolysaccharidosis type 1 mutation
- G;GGoodcommon/normal
On SNPedia: (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
Other IDUA SNPs
- rs777295041G;GMucopolysaccharidosis type 1Very important
- rs121965019A;GCarrier of a mucopolysaccharidosis type 1 mutationImportant
- 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.223G>A, p.Ala75Thr or A75T reported in ClinVar as pathogenic for mucopolysaccharidosis type 1
A;A
see rs758452450
A;G
Unaffected in absence of a second IDUA gene mutation
Source and license
Adapted from rs758452450 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 Its entries can be incomplete, out of date or wrong, and nothing here is a diagnosis or medical advice.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.