rs738409

A SNP in the PNPLA3 gene on chromosome 22. Its most notable genotype is G;G: higher odds of alcoholic liver disease, increased liver fat

Gene
PNPLA3
Location
Chr 2243,928,847 (GRCh38)
Highest magnitude
3.1Important
Tested on
23andMe, AncestryDNA
Minor allele frequency
28%

Genotypes

Plus strand, as in 23andMe and AncestryDNA files.

  1. G;GMost notableBadhigher odds of alcoholic liver disease, increased liver fatImportant · 3.110% of people
  2. C;GBadincreased liver fat, odds of alcoholic liver diseaseWorth knowing · 2.037% of people
  3. C;CGoodmost common genotype; slightly less damage from alcoholWorth knowing · 2.153% of people

SNPedia records rs738409 on the minus strand: (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 4 HapMap populations.

  • AverageG;G 10% C;G 37% C;C 53%
  • European ancestry (Utah)G;G 3% C;G 42% C;C 55%
  • Han Chinese (Beijing)G;G 13% C;G 42% C;C 44%
  • Japanese (Tokyo)G;G 23% C;G 41% C;C 36%
  • Yoruba (Nigeria)G;G 2% C;G 23% C;C 76%

Conditions, medicines and genes

Other PNPLA3 SNPs

All PNPLA3 SNPs

Notes

From SNPedia

Show notes, about 200 words

rs738409 is a SNP in the PNPLA3 gene. In all HapMap populations the most common allele is a C on the plus strand (coding for 148I), which means a G on the minus strand as represented for this SNP in dbSNP and in SNPedia. In the scientific literature, however, most authors appear unaware that this SNP is defined as oriented on the minus strand, so they refer incorrectly to rs738409(G) as the minor allele. The genotypes defined in SNPedia are correct for the minus orientation of this SNP, but this can be confusing since it's the opposite of what the literature indicates in many cases. In a Mestizo population, rs738409 is strongly associated with alcoholic liver disease and clinically evident alcoholic cirrhosis (unadjusted odds ratio 2.25, p=1.7e-10); ancestry-adjusted OR 1.79, p=1.9 x 10(-5)). rs738409(G) increased quantitative measures of liver fat content nature Nonalcoholic fatty liver disease. Fat content 2x for rs738409(G;G) rs738409(G) (I148M) was strongly associated with increased hepatic fat levels (P = 5.9 times 10-10)

G;G

Alcohol seems to be 3x more damaging to your liver than typical. 5x higher risk for developing fatty liver, and 6x risk of fibrosis. news

Source and license

Adapted from rs738409 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.