rs193302854

A SNP in the GNPTG gene on chromosome 16. Its most notable genotype is T;T: Mucolipidosis III gamma

Gene
GNPTG
Location
Chr 161,362,610 (GRCh38)
Highest magnitude
6.1Very important
Tested on
AncestryDNA

Genotypes

As shown in 23andMe and AncestryDNA files.

  1. C;CBadLikely miscall if from Ancestry data; otherwise, mucolipidosis mutationImportant · 3.0
  2. G;GGoodcommon in clinvarTypical · 0.0
  3. G;TBadCarrier of a mucolipidosis III gamma mutationImportant · 3.0
  4. T;TMost notableBadMucolipidosis III gammaVery important · 6.1

On SNPedia: (C;C), (G;G), (G;T), (T;T). Magnitude rates how notable a genotype is from 0 to 10, not how risky it is.

Other GNPTG SNPs

All GNPTG SNPs

Notes

From SNPedia

Notes

C;C

Seen too often in Ancestry v2 data compared to reported frequency worldwide, so likely to be a miscall in data from Ancestry. If your data is not from Ancestry, let us know.

G;T

Unaffected in absence of a second mutation in the GNPTG gene; see ClinVar sidebar for links.

T;T

See ClinVar sidebar on main rs/page for details.

Source and license

Adapted from rs193302854 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 Its entries can be incomplete, out of date or wrong, and nothing here is a diagnosis or medical advice.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.