rs2230808

A SNP in the ABCA1 gene on chromosome 9. Its most notable genotype is T;T: common in clinvar

Gene
ABCA1
Location
Chr 9104,800,523 (GRCh38)
Highest magnitude
0.0Typical
Tested on
23andMe, AncestryDNA, FamilyTreeDNA
Minor allele frequency
41%

Genotypes

Plus strand, as in 23andMe and AncestryDNA files.

  1. T;TMost notableGoodcommon in clinvarTypical · 0.029% of people

SNPedia records rs2230808 on the minus strand: (A;A). 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.

  • AverageT;T 29%
  • European ancestry (Utah)T;T 2%
  • Han Chinese (Beijing)T;T 17%
  • Japanese (Tokyo)T;T 9%
  • Yoruba (Nigeria)T;T 84%
  • African ancestry (Southwest US)T;T 47%
  • Chinese (Denver)T;T 12%
  • Gujarati IndianT;T 16%
  • Luhya (Kenya)T;T 66%
  • Mexican ancestry (Los Angeles)T;T 5%
  • Maasai (Kenya)T;T 55%
  • TuscanT;T 4%

Conditions, medicines and genes

Other ABCA1 SNPs

All ABCA1 SNPs

Notes

From SNPedia

Show notes, about 140 words

rs2297404, rs2230808, and rs2020927 haplotype (CAC) was more prevalent in the Alzheimer's disease group (0.323 in AD vs. 0.202 in control); while haplotype1 (TGG) was over-represented in the healthy controls (0.595 in control vs. 0.493 in AD) ABCA1 modulates CSF cholesterol levels and influences the age at onset of Alzheimer's disease. ABCA1 polymorphisms and Alzheimer's disease. Apolipoprotein E levels in cerebrospinal fluid and the effects of ABCA1 polymorphisms. The effect of ABCA1 gene polymorphisms on ischaemic stroke risk and relationship with lipid profile. Genetic-epidemiological evidence on genes associated with HDL cholesterol levels: a systematic in-depth review. A survey of ABCA1 sequence variation confirms association with dementia. A polymorphism of the ABCA1 gene confers susceptibility to schizophrenia and related brain changes.

Source and license

Adapted from rs2230808 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 Its entries can be incomplete, out of date or wrong, and nothing here is a diagnosis or medical advice.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.