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.

  1. C;CMost notableGoodcommon in clinvarTypical · 0.012% of people

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%

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.