rs1051730

A SNP in the CHRNA3 gene on chromosome 15. Its most notable genotype is A;A: 1.8x increased risk of lung cancer; reduced response to alcohol, therefore possibly increased risk of alcohol abuse

Gene
CHRNA3
Location
Chr 1578,601,997 (GRCh38)
Highest magnitude
2.5Worth knowing
Tested on
23andMe, AncestryDNA
Minor allele frequency
19%

Genotypes

Plus strand, as in 23andMe and AncestryDNA files.

  1. G;GGoodSmokes normal (lower) number of cigarettes if a smoker.Worth knowing · 2.073% of people
  2. A;GBad1.3x increased risk of lung cancerWorth knowing · 2.023% of people
  3. A;AMost notableBad1.8x increased risk of lung cancer; reduced response to alcohol, therefore possibly increased risk of alcohol abuseWorth knowing · 2.54% of people

SNPedia records rs1051730 on the minus strand: (C;C), (C;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 11 HapMap populations.

  • AverageG;G 73% A;G 23% A;A 4%
  • European ancestry (Utah)G;G 39% A;G 45% A;A 16%
  • Han Chinese (Beijing)G;G 95% A;G 5% A;A 0%
  • Japanese (Tokyo)G;G 96% A;G 4% A;A 0%
  • Yoruba (Nigeria)G;G 80% A;G 20% A;A <1%
  • African ancestry (Southwest US)G;G 68% A;G 32% A;A 0%
  • Chinese (Denver)G;G 93% A;G 7% A;A 0%
  • Gujarati IndianG;G 63% A;G 31% A;A 6%
  • Luhya (Kenya)G;G 91% A;G 9% A;A 0%
  • Mexican ancestry (Los Angeles)G;G 62% A;G 33% A;A 5%
  • Maasai (Kenya)G;G 78% A;G 22% A;A <1%
  • TuscanG;G 36% A;G 45% A;A 19%

Conditions, medicines and genes

Other CHRNA3 SNPs

All CHRNA3 SNPs

Notes

From SNPedia

Show notes, about 360 words

rs1051730, also known as D398N, is a SNP in the nicotinic acetylcholine receptor alpha 3 subunit CHRNA3 gene. In two recent (2008) studies, together comprising over 6,000 lung cancer patients of European ancestry, the rs1051730(T) allele was very significantly associated with increased risk. Having one copy (i.e. being a rs1051730(C;T) genotype) increased risk for lung cancer about 1.3x, and having two copies (rs1051730(T;T) individuals) represented 1.8x increased risk. Up to 14% of lung cancer incidence may be attributable to this allele.PMID 18385738, PMID 18385676 An independent study published at the same time concluded that (T) allele carriers for SNP rs1051730 are not at higher risk of becoming smokers compared to (C) carriers. However, if they do smoke, (T) carriers are quite likely to smoke more cigarettes than (C) carriers, and as an apparent consequence, they are at higher risk for lung cancer as reported in this and other studies. This study therefore links rs1051730 directly to nicotine dependence, and indirectly to lung cancer. According to DeCODE, the CC genotype at rs1051730 is associated with 0.88x risk of peripheral arterial disease (PAD). Note: publications tend to refer to the risk allele as "A", however, the orientation reported for rs1051730 in dbSNP is for the opposite strand, so in keeping with reporting all SNPs in the orientation published in dbSNP, SNPedia refers to this same risk allele as the (T) allele. 23andMe blog (T;T) once more smoke per day. rs1051730 influences how much alcohol it takes to have you feel a buzz. More professorially: rs1051730 influences the level of response to alcohol intake, as measured by body sway after having a 10am "3 drink challenge". rs1051730(T;T) individuals respond slower to alcohol, which generally is considered to actually increase their long-term risk of alcohol abuse. 23andMe blog (T;T) makes it harder to quit smoking Peripheral Artery Disease

G;G

Less nicotine dependence. Also smokes each cigarette less deeply. Therefore there is a reduced risk of lung cancer and a reduced (0.8x) risk of Peripheral Artery Disease. This doesn't affect whether people start smoking though.

Source and license

Adapted from rs1051730 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.