rs16969968
A SNP in the CHRNA5 gene on chromosome 15. Its most notable genotype is A;A: higher risk for nicotine dependence, lower risk for cocaine dependence
- Gene
- CHRNA5
- Location
- Chr 1578,590,583 (GRCh38)
- Highest magnitude
- 3.0Important
- Tested on
- 23andMe, AncestryDNA, FamilyTreeDNA
- Minor allele frequency
- 17%
Genotypes
As shown in 23andMe and AncestryDNA files.
- A;AMost notableBadhigher risk for nicotine dependence, lower risk for cocaine dependence
- A;GBadslightly higher risk for nicotine dependence, lower risk for cocaine dependence
- G;GNot ratednormal
On SNPedia: (A;A), (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.
- AverageA;A 4% A;G 18% G;G 77%
- European ancestry (Utah)A;A 16% A;G 45% G;G 39%
- Han Chinese (Beijing)A;A 0% A;G 5% G;G 95%
- Japanese (Tokyo)A;A 0% A;G 4% G;G 96%
- Yoruba (Nigeria)A;A 0% A;G 0% G;G 100%
- African ancestry (Southwest US)A;A 2% A;G 12% G;G 86%
- Chinese (Denver)A;A 0% A;G 7% G;G 93%
- Gujarati IndianA;A 6% A;G 31% G;G 63%
- Luhya (Kenya)A;A 0% A;G <1% G;G 99%
- Mexican ancestry (Los Angeles)A;A 5% A;G 35% G;G 60%
- Maasai (Kenya)A;A <1% A;G 17% G;G 82%
- TuscanA;A 19% A;G 43% G;G 38%
Related
Conditions, medicines and genes
Notes
From SNPedia
Show notes, about 170 words
Associated with smoking phenotype (p=0.007) based on association study of 2,000+ individuals, and functional studies demonstrated that the risk allele decreased response to a nicotine agonist, therefore the rs16969968(A) allele is likely to be involved in nicotine dependence. In a study 500+ individuals with cocaine dependence, the same rs16969968(A) allele was associated with a 0.67x decreased risk (p = 0.0045). A study of 200 individuals replicated the association between this SNP and nicotine dependence, and also concluded that the rs16969968(A) allele was significantly associated with "enhanced pleasurable responses" to a person's first cigarette. 23andMe blog 23andMe considers rs1051730 equivalent The association between rs16969968 and lung cancer may, in part, be confounded by chronic obstructive pulmonary disease. rs16969968 increases susceptibility to Substance dependence, Nicotine 1.10 times for heterozygotes (AG) and 1.90 times for homozygotes (AA) plos Risk Factors for Age-Dependent Nicotine Addiction
Source and license
Adapted from rs16969968 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.