rs193302853
A SNP in the GNPTG gene on chromosome 16. Its most notable genotype is -;-: Mucolipidosis III gamma
- Gene
- GNPTG
- Location
- Chr 161,362,562 (GRCh38)
- Highest magnitude
- 6.1Very important
- Tested on
- AncestryDNA
Genotypes
As shown in 23andMe and AncestryDNA files.
- -;-Most notableBadMucolipidosis III gamma
- -;ABadCarrier of a mucolipidosis III gamma mutation
- GTGGGCCTGGCTGGGAGCTGGGTGCTGCCCCTGC;GTGGGCCTGGCTGGGAGCTGGGTGCTGCCCCTGCGoodcommon in clinvar
On SNPedia: (-;-), (-;A), (GTGGGCCTGGCTGGGAGCTGGGTGCTGCCCCTGC;GTGGGCCTGGCTGGGAGCTGGGTGCTGCCCCTGC). Magnitude rates how notable a genotype is from 0 to 10, not how risky it is.
Related
Conditions, medicines and genes
Other GNPTG SNPs
- rs137852884A;AMucolipidosis III gammaVery important
- rs137852885A;AMucolipidosis III gammaVery important
- rs193302847C;CMucolipidosis III gammaVery important
- rs193302848T;TMucolipidosis III gammaVery important
- rs193302849-;-Mucolipidosis III gammaVery important
- rs193302850-;-Mucolipidosis III gammaVery important
- rs193302851C;CMucolipidosis III gammaVery important
- rs193302852C;CMucolipidosis III gammaVery important
Notes
From SNPedia
Notes
c.609+28_610-16del (del34) Non-coding variant assessed as part of Blueprint Genetics Retinal dystrophy (266 gene) panel.
-;-
See ClinVar sidebar on main rs/page for details.
-;A
Unaffected in absence of a second mutation in the GNPTG gene; see ClinVar sidebar for links.
Source and license
Adapted from rs193302853 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 Its entries can be incomplete, out of date or wrong, and nothing here is a diagnosis or medical advice.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.