rs2233695
A SNP in the PLP1 gene on chromosome X. Its most notable genotype is C;C: common in clinvar
- Gene
- PLP1
- Location
- Chr X103,776,965 (GRCh38)
- Highest magnitude
- 0.0Typical
- Tested on
- 23andMe
Genotypes
As shown in 23andMe and AncestryDNA files.
On SNPedia: (C;C). Magnitude rates how notable a genotype is from 0 to 10, not how risky it is.
Frequency
Share of each genotype in 3 HapMap populations.
- AverageC;C 99%
- Han Chinese (Beijing)C;C 99%
- Japanese (Tokyo)C;C 98%
- Chinese (Denver)C;C 98%
Related
Notes
From SNPedia
Notes
A Whole-Genome Analysis Framework for Effective Identification of Pathogenic Regulatory Variants in Mendelian Disease. This SNP maps to a position listed in Table S6 as a non-coding variant that their biocurators felt was convincingly associated with a Mendelian disease.
Source and license
Adapted from rs2233695 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 Its entries can be incomplete, out of date or wrong, and nothing here is a diagnosis or medical advice.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.