rs398123406
A SNP in the STK11 gene on chromosome 19. Its most notable genotype is C;G: STK11 gene mutation associated with Peutz-Jeghers syndrome
- Gene
- STK11
- Location
- Chr 191,222,984 (GRCh38)
- Highest magnitude
- 5.8Very important
- Tested on
- 23andMe, AncestryDNA
Genotypes
As shown in 23andMe and AncestryDNA files.
- C;GMost notableBadSTK11 gene mutation associated with Peutz-Jeghers syndrome
- G;GGoodcommon in clinvar
- G;TBadSTK11 gene mutation associated with Peutz-Jeghers syndrome
On SNPedia: (C;G), (G;G), (G;T). Magnitude rates how notable a genotype is from 0 to 10, not how risky it is.
Related
Conditions, medicines and genes
Other STK11 SNPs
- rs9282859C;GSTK11 gene mutation associated with Peutz-Jeghers syndromeVery important
- rs121913315A;GSTK11 gene mutation associated with Peutz-Jeghers syndromeVery important
- rs121913321-;CSTK11 gene mutation associated with Peutz-Jeghers syndromeVery important
- rs121913322C;TSTK11 gene mutation associated with Peutz-Jeghers syndromeVery important
- rs121913324C;TSTK11 gene mutation associated with Peutz-Jeghers syndromeVery important
- rs137853075A;CLikely miscall in Ancestry v2c data; otherwise, STK11 gene mutation associated with Peutz-Jeghers syndromeVery important
- rs137853076A;TSTK11 gene mutation associated with Peutz-Jeghers syndromeVery important
- rs137853077C;TSTK11 gene mutation associated with Peutz-Jeghers syndromeVery important
Notes
From SNPedia
Notes
rs398123406, also known as c.921-1G>T, represents a rare variant in the STK11 gene on chromosome 19. In ClinVar, there is one group reporting the rs398123406(T) variant to be a pathogenic mutation associated with Peutz-Jeghers syndrome, presumably inherited in a dominant manner.
C;G
Very rare condition; false positives are possible.
G;T
Very rare condition; false positives are possible and have been reported by Promethease users.
Source and license
Adapted from rs398123406 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 Its entries can be incomplete, out of date or wrong, and nothing here is a diagnosis or medical advice.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.