rs12150220
A SNP in the NLRP1 gene on chromosome 17. Its most notable genotype is A;A: slightly increased risk for several autoimmune diseases
- Gene
- NLRP1
- Location
- Chr 175,582,047 (GRCh38)
- Highest magnitude
- 0.0Typical
- Tested on
- 23andMe, AncestryDNA
- Minor allele frequency
- 23%
Genotypes
As shown in 23andMe and AncestryDNA files.
- A;AMost notableBadslightly increased risk for several autoimmune diseases
- A;TBadslightly increased risk for several autoimmune diseases
- T;TNot ratednormal
On SNPedia: (A;A), (A;T), (T;T). 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 78% A;T 19% T;T 3%
- European ancestry (Utah)A;A 24% A;T 60% T;T 16%
- Han Chinese (Beijing)A;A 89% A;T 11% T;T 0%
- Japanese (Tokyo)A;A 93% A;T 7% T;T 0%
- Yoruba (Nigeria)A;A 97% A;T 3% T;T 0%
- African ancestry (Southwest US)A;A 87% A;T 13% T;T 0%
- Gujarati IndianA;A 65% A;T 31% T;T 4%
- Luhya (Kenya)A;A 94% A;T 6% T;T 0%
Related
Conditions, medicines and genes
Notes
From SNPedia
Show notes, about 120 words
rs12150220 is a SNP in the NLRP1 gene, which encodes the NACHT leucine-rich-repeat protein 1. SNPs in this gene may be involved in higher risk for several autoimmune diseases. In a study investigating large patient cohorts from six different autoimmune diseases, including autoimmune Addison's disease (n=333 patients), type-1 diabetes (n=1086), multiple sclerosis (n=502), rheumatoid arthritis (n=945), systemic lupus erythematosus (n=156) and juvenile idiopathic arthritis (n=505), plus 3273 healthy controls, the rs12150220(A) allele was associated with higher risk for both autoimmune Addison's disease (odds ratio 1.25, CI: 1.06-1.49, p = 0.007) and type-1 diabetes (odds ratio 1.15, CI: 1.04-1.27, p = 0.005).
Source and license
Adapted from rs12150220 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 Its entries can be incomplete, out of date or wrong, and nothing here is a diagnosis or medical advice.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.