rs2228603
A SNP in the NCAN gene on chromosome 19. Its most notable genotype is T;T: hepatic steatosis
- Gene
- NCAN
- Location
- Chr 1919,219,115 (GRCh38)
- Highest magnitude
- 3.0Important
- Tested on
- 23andMe, AncestryDNA
- Minor allele frequency
- 5%
Genotypes
As shown in 23andMe and AncestryDNA files.
On SNPedia: (C;C), (T;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.
- AverageC;C 92% T;T <1%
- European ancestry (Utah)C;C 81% T;T <1%
- Han Chinese (Beijing)C;C 82% T;T 0%
- Japanese (Tokyo)C;C 87% T;T <1%
- Yoruba (Nigeria)C;C 99% T;T 0%
- African ancestry (Southwest US)C;C 97% T;T 2%
- Chinese (Denver)C;C 94% T;T 0%
- Gujarati IndianC;C 82% T;T 1%
- Luhya (Kenya)C;C 99% T;T 0%
- Mexican ancestry (Los Angeles)C;C 98% T;T 0%
- Maasai (Kenya)C;C 99% T;T 0%
- TuscanC;C 91% T;T 0%
Related
Notes
From SNPedia
Show notes, about 160 words
rs2228603 is a SNP in the NCAN gene (also known as CSPG3), coding for the neurocan core protein. The T risk allele results in a proline to serine missense mutation at position 92 of the protein. In a large GWAS of individuals of European descent published in March, 2011, rs2228603 was found to be associated with nonalcoholic fatty liver disease (NAFLD), as evidenced by hepatic steatosis found by CT scanning and confirmed by histology. The investigators confirmed their initial findings with using the same case cohort and two separate control groups and found genome-wide significant odds ratios of 1.65 (95% CI = 1.15-2.87; p=5.29E-5; p=6.82E-10) and 1.9 (95% CI not reported) NAFLD is associated with higher LDL-C and lower LDL-C levels as well as impaired fasting glucose and increased risk of insulin resistance and diabetes. However, rs2228603 was found to be associated with lower triglycerides and plasma LDL-Cholesterol in this study .
Source and license
Adapted from rs2228603 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 Its entries can be incomplete, out of date or wrong, and nothing here is a diagnosis or medical advice.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.