rs2230500

A SNP in the PRKCH gene on chromosome 14. Its most notable genotype is A;A: 1.4x increased risk for stroke

Gene
PRKCH
Location
Chr 1461,457,521 (GRCh38)
Highest magnitude
0.0Typical
Tested on
23andMe, AncestryDNA
Minor allele frequency
6%

Genotypes

As shown in 23andMe and AncestryDNA files.

  1. A;AMost notableNot rated1.4x increased risk for strokeTypical · 0.00% of people
  2. A;GNot rated1.4x increased risk for strokeTypical · 0.02% of people
  3. G;GGoodnormal riskTypical · 0.098% of people

On SNPedia: (A;A), (A;G), (G;G). Magnitude rates how notable a genotype is from 0 to 10, not how risky it is.

Frequency

Share of each genotype in 7 HapMap populations.

  • AverageA;A 0% A;G 2% G;G 98%
  • European ancestry (Utah)A;A 0% A;G 0% G;G 100%
  • Han Chinese (Beijing)A;A 0% A;G 5% G;G 95%
  • Japanese (Tokyo)A;A 0% A;G 3% G;G 97%
  • Yoruba (Nigeria)A;A 0% A;G 0% G;G 100%
  • Chinese (Denver)A;A 0% A;G 6% G;G 95%
  • Luhya (Kenya)A;A 0% A;G <1% G;G 99%
  • TuscanA;A 0% A;G 1% G;G 99%

Conditions, medicines and genes

Notes

From SNPedia

Show notes, about 160 words

A common SNP only in Asian populations, this SNP (also known as 1425G/A) and a close neighbor also in the PRKCH gene, rs3783799, have been associated with higher risk for subcortical silent brain infarction, a common form of stroke. In one study of ~1100 Japanese stroke patients, the odds ratio for carriers of the rs2230500(A) risk allele was reported as 1.40 (CI: 1.23-1.59, p=5x10e-7). A subsequent study reported the odds ratio for carriers of the (A) allele as 1.27 (CI: 1.09-1.48, p=0.0026) compared to individuals homozygous for rs2230500(G), based on studies of ~300 Japanese patients. rs2230500 (V374I) and rs9943582 were significantly associated with stroke Genetic association between the PRKCH gene encoding protein kinase Ceta isozyme and rheumatoid arthritis in the Japanese population. Association of PRKCH gene with lacunar infarction in a local Chinese Han population. Genome-wide association study for ischemic stroke based on the hisayama study.

Source and license

Adapted from rs2230500 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 Its entries can be incomplete, out of date or wrong, and nothing here is a diagnosis or medical advice.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.