rs121918470
A SNP in the PTPN11 gene on chromosome 12. Its most notable genotype is A;C: Noonan syndrome
- Gene
- PTPN11
- Location
- Chr 12112,489,105 (GRCh38)
- Highest magnitude
- 7.0Very important
- Tested on
- AncestryDNA
Genotypes
As shown in 23andMe and AncestryDNA files.
- A;AGoodcommon in clinvar
- A;CMost notableBadNoonan syndrome
On SNPedia: (A;A), (A;C). Magnitude rates how notable a genotype is from 0 to 10, not how risky it is.
Related
Other PTPN11 SNPs
- rs28933386A;GNoonan syndromeVery important
- rs121918457C;TNoonan syndromeVery important
- rs121918459A;GNoonan syndromeVery important
- rs376607329A;GNoonan syndromeVery important
- rs397507503C;TNoonan syndromeVery important
- rs397507520C;GNoonan syndromeVery important
- rs397507525C;TNoonan syndromeVery important
- rs397507547A;GNoonan syndromeVery important
Notes
From SNPedia
Notes
aka c.1529A>C (p.Gln510Pro)
A;C
see links via main rs-page
Source and license
Adapted from rs121918470 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 Its entries can be incomplete, out of date or wrong, and nothing here is a diagnosis or medical advice.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.