rs7121
A SNP in the GNAS gene on chromosome 20. Its most notable genotype is C;C: common in clinvar
- Gene
- GNAS
- Location
- Chr 2058,903,752 (GRCh38)
- Highest magnitude
- 0.0Typical
- Tested on
- 23andMe, AncestryDNA, FamilyTreeDNA
- Minor allele frequency
- 39%
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 11 HapMap populations.
- AverageC;C 12%
- European ancestry (Utah)C;C 30%
- Han Chinese (Beijing)C;C 15%
- Japanese (Tokyo)C;C 21%
- Yoruba (Nigeria)C;C 2%
- African ancestry (Southwest US)C;C 6%
- Chinese (Denver)C;C 10%
- Gujarati IndianC;C 20%
- Luhya (Kenya)C;C 6%
- Mexican ancestry (Los Angeles)C;C 7%
- Maasai (Kenya)C;C 1%
- TuscanC;C 17%
Related
Conditions, medicines and genes
Notes
From SNPedia
Show notes, about 220 words
prostate cancer treatment response rs2279115 and rs7121 Complex haplotype structure of the human GNAS gene identifies a recombination hotspot centred on a single nucleotide polymorphism widely used in association studies. Polymorphism in maternal LRP8 gene is associated with fetal growth. Differential allelic expression in the human genome: a robust approach to identify genetic and epigenetic cis-acting mechanisms regulating gene expression. PTHR1 mutations associated with Ollier disease result in receptor loss of function. Functional genetic polymorphisms and female reproductive disorders: Part I: Polycystic ovary syndrome and ovarian response. A sensitive functional assay reveals frequent loss of genomic imprinting in human placenta. Association of the GNAS locus with severe malaria. Development of a fingerprinting panel using medically relevant polymorphisms. Association of maternally inherited GNAS alleles with African-American male birth weight. Population based allele frequencies of disease associated polymorphisms in the Personalized Medicine Research Project. Genetic variation in gsalpha protein as a new indicator in screening test for vasovagal syncope. Gene panels to help identify subgroups at high and low risk of coronary heart disease among those randomized to antihypertensive treatment: the GenHAT study.
Source and license
Adapted from rs7121 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 Its entries can be incomplete, out of date or wrong, and nothing here is a diagnosis or medical advice.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.