rs2251219
A SNP in the PBRM1 gene on chromosome 3. Its most notable genotype is C;T: Lower bipolar disorder risk?
- Gene
- PBRM1
- Location
- Chr 352,550,771 (GRCh38)
- Highest magnitude
- 0.0Typical
- Tested on
- 23andMe, AncestryDNA
- Minor allele frequency
- 39%
Genotypes
Plus strand, as in 23andMe and AncestryDNA files.
SNPedia records rs2251219 on the minus strand: (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 11 HapMap populations.
- AverageC;T 39% C;C 15%
- European ancestry (Utah)C;T 46% C;C 11%
- Han Chinese (Beijing)C;T 56% C;C 18%
- Japanese (Tokyo)C;T 49% C;C 26%
- Yoruba (Nigeria)C;T 26% C;C 1%
- African ancestry (Southwest US)C;T 35% C;C 7%
- Chinese (Denver)C;T 56% C;C 16%
- Gujarati IndianC;T 42% C;C 8%
- Luhya (Kenya)C;T 18% C;C 5%
- Mexican ancestry (Los Angeles)C;T 41% C;C 41%
- Maasai (Kenya)C;T 16% C;C <1%
- TuscanC;T 47% C;C 30%
Notes
From SNPedia
Notes
Replication Study and Meta-Analysis in European Samples Supports Association of the 3p21.1 Locus with Bipolar Disorder.
C;T
The C-allele of rs2251219 was significantly under-represented in bipolar disorder cases compared to controls (p=0.002, OR = 0.57; Table 2), replicating our main meta-analysis result.
C;C
The C-allele of rs2251219 was significantly under-represented in bipolar disorder cases compared to controls (p=0.002, OR = 0.57; Table 2), replicating our main meta-analysis result.
References
Source and license
Adapted from rs2251219 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 Its entries can be incomplete, out of date or wrong, and nothing here is a diagnosis or medical advice.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.