rs3803
A SNP in the GATA2 gene on chromosome 3. Its most notable genotype is G;G: common in clinvar
- Gene
- GATA2
- Location
- Chr 3128,480,537 (GRCh38)
- Highest magnitude
- 0.0Typical
- Tested on
- 23andMe, FamilyTreeDNA
- Minor allele frequency
- 14%
Genotypes
Plus strand, as in 23andMe and AncestryDNA files.
SNPedia records rs3803 on the minus strand: (C;C), (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.
- AverageG;G 72% C;C 0%
- European ancestry (Utah)G;G 61% C;C 0%
- Han Chinese (Beijing)G;G 87% C;C 0%
- Japanese (Tokyo)G;G 86% C;C 0%
- Yoruba (Nigeria)G;G 69% C;C 0%
- African ancestry (Southwest US)G;G 73% C;C 0%
- Chinese (Denver)G;G 80% C;C 0%
- Gujarati IndianG;G 84% C;C 0%
- Luhya (Kenya)G;G 66% C;C 0%
- Mexican ancestry (Los Angeles)G;G 72% C;C 0%
- Maasai (Kenya)G;G 51% C;C 0%
- TuscanG;G 64% C;C 0%
Related
Conditions, medicines and genes
Notes
From SNPedia
Show notes, about 140 words
Category:needs help Category:interestingThis paper implicates this snp as playing a role in heart disease. Having a G at this position is considered normal. Having an A at this position reduces the risk of heart disease. Approximate 15% of all people carry this allele. Technical note: This applies to many other snps, but here is the first clean case I've encountered. dbsnp shows ss3839 and ss16241517 are being read 'fwd' ss16940640 and ss44449258 are being read in 'rev'. This has C/T alleles when read forward, and A/G when read in reverse. Since the authors of the paper above describe this as an A/G snp, it seems they are reading in reverse. Often papers include even less information, and can leave some ambiguity about these important details. GATA2 is associated with familial early-onset coronary artery disease.
Source and license
Adapted from rs3803 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 Its entries can be incomplete, out of date or wrong, and nothing here is a diagnosis or medical advice.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.