rs386833624

A SNP in the PPT1 gene on chromosome 1. Its most notable genotype is -;-: Neuronal ceroid lipofuscinosis, type 1 (predicted)

Gene
PPT1
Location
Chr 140,073,532 (GRCh38)
Highest magnitude
7.0Very important
Tested on
Not on consumer chips

Genotypes

As shown in 23andMe and AncestryDNA files.

  1. -;-Most notableBadNeuronal ceroid lipofuscinosis, type 1 (predicted)Very important · 7.0
  2. -;ATCABadunaffected carrier of one neuronal ceroid lipofuscinosis mutationImportant · 3.0
  3. ATCA;ATCAGoodcommon in clinvarTypical · 0.0

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

Other PPT1 SNPs

All PPT1 SNPs

Notes

From SNPedia

Notes

aka c.*526_*529delATCA The minor (deletion) allele is reported as pathogenic (when inherited recessively) by one source in ClinVar as pathogenic for a neuronal ceroid lipofuscinosis, among the most common types of neurodegenerative disorders seen in children.

-;-

see rs386833624

-;ATCA

see rs386833624

Source and license

Adapted from rs386833624 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 Its entries can be incomplete, out of date or wrong, and nothing here is a diagnosis or medical advice.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.