rs121913322

A SNP in the STK11 gene on chromosome 19. Its most notable genotype is C;T: STK11 gene mutation associated with Peutz-Jeghers syndrome

Gene
STK11
Location
Chr 191,221,320 (GRCh38)
Highest magnitude
5.8Very important
Tested on
AncestryDNA
Minor allele frequency
<1%

Genotypes

As shown in 23andMe and AncestryDNA files.

  1. C;CGoodnormalTypical · 0.0
  2. C;TMost notableBadSTK11 gene mutation associated with Peutz-Jeghers syndromeVery important · 5.8

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

Other STK11 SNPs

All STK11 SNPs

Notes

From SNPedia

Show notes, about 250 words

Simple Nucleotide Polymorphisms (dbSNP 135) Flagged by dbSNP as Clinically Associatied SNP From UCSC hg19 Position: chr19:1221319-1221319 http://main.genome-browser.bx.psu.edu/cgi-bin/hgc?hgsid=147742&c=chr19&o=1221318&t=1221319&g=snp135Flagged&i=rs121913322 Summary: C>C/T; chimp allele displayed first, then '>', then human alleles; Strand: +; Observed: C/T; UCSC Reference allele: C Chimp allele: C Chimp strand: + Chimp position: chr19:1171245-1171245; Orangutan allele: C Orangutan strand: + Orangutan position: chr19:1137481-1137481; Macaque allele: C Macaque strand: + Macaque position: chr19:975254-975254; Class single Validation by-cluster,by-1000genomes; Function missense_variant; Molecule Type genomic; Weight 1; Submitter Handles: 1000GENOMES, DF-BWCC; 1000 genome Allele Frequencies: C: 99.817% (2184 / 2188); T: 0.183% (4 / 2188); MAF/MinorAlleleCount: T=0.002/4; MAF Source: 1000 Genomes; Miscellaneous properties annotated by dbSNP: SNP is in OMIM/OMIA and/or at least one submitter is a Locus-Specific Database ("clinically associated") ; SNP was submitted by Locus-Specific Database; Coding annotations by dbSNP: STK11 (NM_000455): missense_variant P (CCG) --> L (CTG); dbSNP: rs121913322 http://www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi?rs=121913322 ss275515168 DF-BWCC|Cosmic:21355 ss491143638 1000GENOMES|20110521_exome_651436_chr19_1221319 ss491143638 1000GENOMES|20110521_exome_651436_chr19_1221319 ss491535737 EXOME_CHIP|nonsyn_251963_chr_19_1221319

C;T

Very rare condition; false positives are possible.

Source and license

Adapted from rs121913322 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 Its entries can be incomplete, out of date or wrong, and nothing here is a diagnosis or medical advice.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.