rs4129148
A SNP in the CSF2RA gene on chromosome X. Its most notable genotype is C;C: >3x risk of schizophrenia
- Gene
- CSF2RA
- Location
- Chr X1,029,445 (GRCh38)
- Highest magnitude
- 3.0Important
- Tested on
- 23andMe, AncestryDNA
- Minor allele frequency
- 46%
Genotypes
As shown in 23andMe and AncestryDNA files.
On SNPedia: (C;C), (C;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 10 HapMap populations.
- AverageC;C 29% C;G 51% G;G 20%
- European ancestry (Utah)C;C 13% C;G 39% G;G 48%
- Han Chinese (Beijing)C;C 45% C;G 43% G;G 11%
- Japanese (Tokyo)C;C 23% C;G 61% G;G 16%
- Yoruba (Nigeria)C;C 32% C;G 64% G;G 4%
- African ancestry (Southwest US)C;C 46% C;G 50% G;G 4%
- Chinese (Denver)C;C 31% C;G 51% G;G 18%
- Gujarati IndianC;C 12% C;G 46% G;G 42%
- Mexican ancestry (Los Angeles)C;C 25% C;G 68% G;G 7%
- Maasai (Kenya)C;C 48% C;G 42% G;G 10%
- TuscanC;C 14% C;G 49% G;G 37%
Related
Conditions, medicines and genes
Notes
From SNPedia
Show notes, about 130 words
Located in the Pseudoautosomal region rs4129148, located near the CSF2RA gene, has been reported in a whole genome association study to be associated with schizophrenia. The risk allele (oriented to the dbSNP entry) is (G); the odds ratio associated with this allele is 3.23 (CI 2.04 - 5.15). Given the results from the recent massive Psychiatric Genomics Consortium GWAS, it appears very unlikely that any large effect common SNPs exist for schizophrenia. It is not completely clear, though, how the previously replicated results for rs4129148 might be explained. It is currently predicted that 10,000 SNPs contribute to schizophrenic illness. The diagnosis for schizophrenia has now possibly shifted from asking: Schizophrenic? Yes or No to How much Schizophrenic?
C;C
>3x risk for schizophrenia
Source and license
Adapted from rs4129148 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 Its entries can be incomplete, out of date or wrong, and nothing here is a diagnosis or medical advice.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.