rs4970834

A SNP in the CELSR2 gene on chromosome 1. Its most notable genotype is C;C: common in complete genomics

Gene
CELSR2
Location
Chr 1109,272,258 (GRCh38)
Highest magnitude
0.0Typical
Tested on
23andMe, AncestryDNA, FamilyTreeDNA
Minor allele frequency
17%

Genotypes

As shown in 23andMe and AncestryDNA files.

  1. C;CMost notableGoodcommon in complete genomicsTypical · 0.071% 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 71%
  • European ancestry (Utah)C;C 63%
  • Han Chinese (Beijing)C;C 95%
  • Japanese (Tokyo)C;C 88%
  • Yoruba (Nigeria)C;C 42%
  • African ancestry (Southwest US)C;C 65%
  • Chinese (Denver)C;C 95%
  • Gujarati IndianC;C 65%
  • Luhya (Kenya)C;C 53%
  • Mexican ancestry (Los Angeles)C;C 78%
  • Maasai (Kenya)C;C 61%
  • TuscanC;C 74%

Conditions, medicines and genes

Other CELSR2 SNPs

All CELSR2 SNPs

Notes

From SNPedia

Show notes, about 160 words

rs599839 and rs4970834 explain about 1% of the variation in circulating LDL-cholesterol levels. "When we look at this particular genetic variance, of all the cholesterol variation among the population, 1% of it can be attributed to this particular locus," said Sandhu. "This is equivalent to more established genes for LDL regulation, particularly APOE." rs646776 also linked. rs599839, rs4970834 and rs17228212 associated with non-HDL cholesterol. Genome-wide association study identifies genes for biomarkers of cardiovascular disease: serum urate and dyslipidemia. An open access database of genome-wide association results. Analysis of recently identified dyslipidemia alleles reveals two loci that contribute to risk for carotid artery disease. Evaluation of genetic risk scores for lipid levels using genome-wide markers in the Framingham Heart Study. Genome-wide association study of Lp-PLA(2) activity and mass in the Framingham Heart Study.

Source and license

Adapted from rs4970834 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 Its entries can be incomplete, out of date or wrong, and nothing here is a diagnosis or medical advice.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.