rs11538758
A SNP in the PRNP gene on chromosome 20. Its most notable genotype is C;T: P105L mutation leading to Inherited Prion Disease
- Gene
- PRNP
- Location
- Chr 204,699,534 (GRCh38)
- Highest magnitude
- 4.0Very important
- Tested on
- 23andMe, AncestryDNA
Genotypes
As shown in 23andMe and AncestryDNA files.
- C;CGoodPrP codon P105 - Non-pathogenic form
- C;TMost notableBadP105L mutation leading to Inherited Prion Disease
On SNPedia: (C;C), (C;T). Magnitude rates how notable a genotype is from 0 to 10, not how risky it is.
Frequency
Share of each genotype in 4 HapMap populations.
- AverageC;C 100% C;T 0%
- European ancestry (Utah)C;C 100% C;T 0%
- Han Chinese (Beijing)C;C 100% C;T 0%
- Japanese (Tokyo)C;C 100% C;T 0%
- Yoruba (Nigeria)C;C 100% C;T 0%
Related
Conditions, medicines and genes
Other PRNP SNPs
- rs74315405C;TGerstmann–Straussler–Scheinker syndromeVery important
- rs74315401C;TGerstmann–Straussler–Scheinker syndromeVery important
- rs74315402C;TGerstmann–Straussler–Scheinker syndromeVery important
- rs74315406A;GGerstmann–Straussler–Scheinker syndromeVery important
- rs74315410G;TGerstmann–Straussler–Scheinker syndromeVery important
- rs74315413A;GGerstmann–Straussler–Scheinker syndromeVery important
- rs74315414A;CGerstmann–Straussler–Scheinker syndromeVery important
- rs74315415C;TGerstmann–Straussler–Scheinker syndromeVery important
Notes
From SNPedia
Notes
This SNP occurs at the location coding for Codon 105 of the Prion Protein (PrP). Normally Proline, a mutation to Lucine is associated with inherited Gerstmann-Straussler-Scheinker syndrome. The mutant variant has a low likelihood (p=0.00-0.02) , but leads to neurodegeneration after approximately age 50 , although symptoms and onset can be highly variable.
C;C
This SNP codes for the normal, non-pathogenic form of the Prion Protein codon 105
Source and license
Adapted from rs11538758 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 Its entries can be incomplete, out of date or wrong, and nothing here is a diagnosis or medical advice.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.