rs72555391

A SNP in the GLB1 gene on chromosome 3. Its most notable genotype is T;T: Mucopolysaccharidosis Type IVB

Gene
GLB1
Location
Chr 333,016,743 (GRCh38)
Highest magnitude
6.0Very important
Tested on
23andMe, AncestryDNA

Genotypes

Plus strand, as in 23andMe and AncestryDNA files.

  1. T;TMost notableBadMucopolysaccharidosis Type IVBVery important · 6.0
  2. C;TBadcarrier of a Mucopolysaccharidosis Type IVB alleleImportant · 3.0
  3. C;CGoodcommon in clinvarTypical · 0.0

SNPedia records rs72555391 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.

Other GLB1 SNPs

All GLB1 SNPs

Notes

From SNPedia

Notes

rs72555391, also known as R482H or Arg482His, is a SNP in the galactosidase, beta 1 GLB1 gene. Two defective alleles in the GLB1 can lead to Mucopolysaccharidosis type IVB, and the rs72555391(A) allele is considered such a causative allele. However, clinical symptoms vary widely between individuals.

Source and license

Adapted from rs72555391 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 Its entries can be incomplete, out of date or wrong, and nothing here is a diagnosis or medical advice.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.