rs2228671

A SNP in the LDLR gene on chromosome 19. Its most notable genotype is A;C: Familial Hypercholesterolemia

Gene
LDLR
Location
Chr 1911,100,236 (GRCh38)
Highest magnitude
5.0Very important
Tested on
23andMe, AncestryDNA
Minor allele frequency
6%

Genotypes

As shown in 23andMe and AncestryDNA files.

  1. A;CMost notableBadFamilial HypercholesterolemiaVery important · 5.00% of people
  2. C;CGoodcommon in complete genomicsTypical · 0.091% of people
  3. C;GBadFamilial HypercholesterolemiaVery important · 5.00% of people
  4. C;TGoodLikely to be benign according to ClinVarMinor · 1.08% of people

On SNPedia: (A;C), (C;C), (C;G), (C;T). 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.

  • AverageA;C 0% C;C 91% C;G 0% C;T 8%
  • European ancestry (Utah)A;C 0% C;C 81% C;G 0% C;T 16%
  • Han Chinese (Beijing)A;C 0% C;C 100% C;G 0% C;T 0%
  • Japanese (Tokyo)A;C 0% C;C 100% C;G 0% C;T 0%
  • Yoruba (Nigeria)A;C 0% C;C 97% C;G 0% C;T 2%
  • African ancestry (Southwest US)A;C 0% C;C 91% C;G 0% C;T 9%
  • Chinese (Denver)A;C 0% C;C 98% C;G 0% C;T 2%
  • Gujarati IndianA;C 0% C;C 82% C;G 0% C;T 17%
  • Luhya (Kenya)A;C 0% C;C 95% C;G 0% C;T 5%
  • Mexican ancestry (Los Angeles)A;C 0% C;C 79% C;G 0% C;T 21%
  • Maasai (Kenya)A;C 0% C;C 96% C;G 0% C;T 4%
  • TuscanA;C 0% C;C 84% C;G 0% C;T 16%

Conditions, medicines and genes

Other LDLR SNPs

All LDLR SNPs

Notes

From SNPedia

Notes

The G variant of this SNP in the LDLR gene is reported as meeting at least one of three criteria considered pathogenic for familial hypercholesterolemia and therefore significantly higher risk of coronary artery disease in a sequencing based study of 26,000 participants. 15,000 individuals. Each copy of the minor T allele of SNP rs2228671 was related to a decrease of LDL-C levels by 0.19 mmol/L (95% confidence interval (CI) [0.13-0.24] mmol/L, p = 1.5x10(-10)) and a significantly lower risk of coronary artery disease (OR per copy of the T allele: 0.82, 95% CI [0.76-0.89], p = 2.1x10(-7))

Source and license

Adapted from rs2228671 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 Its entries can be incomplete, out of date or wrong, and nothing here is a diagnosis or medical advice.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.