What you carry at this position in your DNA and what research says about it.
Cardiovascular and Blood Health: 9/10 evidence, 19 publications.
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Sample genotype (not yours): C/C
Higher Cardiovascular and Blood Disorder Risk
Elevated risk of high blood pressure and coronary artery disease is associated with this genotype. It also correlates with a higher likelihood of developing myeloproliferative blood disorders.
What this genotype means: Elevated risk of high blood pressure; Increased risk of coronary artery disease; Higher risk of myeloproliferative blood disorders.
Sample genotype (not yours): C/G
Typical Cardiovascular and Metabolic Risk
Average risk for high blood pressure, heart disease, and lipid imbalances is expected with this heterozygous genotype. It represents a balanced genetic baseline.
What this genotype means: Typical blood pressure levels; Average risk of coronary artery disease; Baseline lipid levels.
Sample genotype (not yours): G/G
Lower Cardiovascular Risk but Higher Cholesterol
Reduced risk of high blood pressure and coronary artery disease is characteristic of this genotype. However, it is associated with higher LDL cholesterol levels and a slight increase in endometrial cancer risk.
What this genotype means: Lower risk of high blood pressure; Reduced risk of coronary artery disease; Slightly higher LDL cholesterol levels.
Gene function and biological role
Gene Function: The SH2B3 gene encodes the SH2B adaptor protein 3, also known as LNK, which acts as a key negative regulator of cytokine receptor signaling. It plays a critical role in hematopoiesis, regulating the proliferation of blood stem cells and mature blood cells. By inhibiting the JAK-STAT signaling pathway, this protein helps maintain normal blood cell counts and prevents uncontrolled cell growth. Disruptions or variations in this gene can lead to altered immune responses, elevated inflammatory markers, and a higher risk of blood disorders.
Variant Impact: The rs7310615 variant is an intronic change located within the SH2B3 gene on chromosome 12. Although it does not directly alter the amino acid sequence of the protein, it is in strong linkage disequilibrium with functional variants that affect SH2B3 expression. This genetic variation influences a wide array of physiological traits, creating a distinct biological trade-off between cardiovascular health and lipid metabolism. The C allele is strongly associated with elevated blood pressure and cardiovascular risk, whereas the G allele correlates with higher circulating cholesterol levels.
Key Insight: This variant acts as a genetic see-saw, where protecting against heart disease slightly increases cholesterol and cancer risks.
Location: SH2B3. Chromosome 12 · 12q24.12 · 111.4 Mb
Estimated prevalence by population
Global 14.3%; European 23.8%; African 0.7%; East Asian < 0.1%; South Asian 0.9%; Americas 8.6%; Ashkenazi 45.0%; Finnish 16.4%; Middle Eastern 13.7%; Amish 21.1%.
Estimated CC genotype frequency.
Global 36.5%; European 50.0%; African 15.1%; East Asian 0.4%; South Asian 17.1%; Americas 41.4%; Ashkenazi 44.2%; Finnish 48.2%; Middle Eastern 46.6%; Amish 49.7%.
Estimated CG genotype frequency.
Global 49.3%; European 26.2%; African 84.3%; East Asian 99.6%; South Asian 82.0%; Americas 50.0%; Ashkenazi 10.9%; Finnish 35.4%; Middle Eastern 39.7%; Amish 29.2%.
Estimated GG genotype frequency.
Showing effects for C/C genotype
Cardiovascular & Metabolic
Heart Disease
Coronary Artery Disease. Evidence: 8/10. Source: PMID 35285134. Increased Risk.
Hypertension
Hypertension. Evidence: 8/10. Source: PMID 39024449. Increased Risk.
Lipids & Cholesterol
LDL Cholesterol. Evidence: 9/10. Source: PMID 30698716. Lower Levels.
Cancer & Oncology
Blood Cancers
Myeloproliferative Disorders. Evidence: 6/10. Source: PMID 33057200. ~1.27x Risk.
Gynecological Cancers
Endometrial Cancer. Evidence: 7/10. Source: PMID 40633141. Lower Risk.
Showing effects for C/G genotype
Coronary Artery Disease. Evidence: 8/10. Source: PMID 35285134. Typical Risk.
Hypertension. Evidence: 8/10. Source: PMID 39024449. Typical Risk.
LDL Cholesterol. Evidence: 9/10. Source: PMID 30698716. Typical Levels.
Myeloproliferative Disorders. Evidence: 6/10. Source: PMID 33057200. Typical Risk.
Endometrial Cancer. Evidence: 7/10. Source: PMID 40633141. Typical Risk.
Showing effects for G/G genotype
Coronary Artery Disease. Evidence: 8/10. Source: PMID 35285134. Lower Risk.
Hypertension. Evidence: 8/10. Source: PMID 39024449. Lower Risk.
LDL Cholesterol. Evidence: 9/10. Source: PMID 30698716. Higher Levels.
Myeloproliferative Disorders. Evidence: 6/10. Source: PMID 33057200. Lower Risk.
Endometrial Cancer. Evidence: 7/10. Source: PMID 40633141. ~1.1x Risk.
What this genotype means for the people who carry it
Sample genotype: CC (Homozygous)
Having two copies of the C allele is linked to a significantly increased risk of hypertension and coronary artery disease. This genetic profile is also associated with a higher risk of myeloproliferative neoplasms, which are clonal blood disorders affecting stem cells. Interestingly, this genotype offers a protective effect against high LDL cholesterol levels, resulting in a more favorable lipid profile. It is also linked to a lower risk of endometrial cancer. Despite these metabolic benefits, the overall clinical impact is dominated by elevated cardiovascular and hematological risks.
Elevated risk of high blood pressure; Increased risk of coronary artery disease; Higher risk of myeloproliferative blood disorders.
Sample genotype: CG (Heterozygous)
Carrying one C allele and one G allele generally results in intermediate or typical risks across all associated traits. Blood pressure levels and coronary artery disease risks are close to the population average. Similarly, the risk for myeloproliferative blood disorders is not significantly elevated. Lipid markers, including LDL cholesterol, and endometrial cancer risks also remain near baseline levels. This genotype represents a balanced state where the opposing effects of the C and G alleles neutralize each other.
Typical blood pressure levels; Average risk of coronary artery disease; Baseline lipid levels.
Sample genotype: GG (Homozygous)
Having two copies of the G allele is associated with a lower risk of hypertension and coronary artery disease. This genotype also provides protection against myeloproliferative blood disorders. However, it is linked to higher levels of LDL cholesterol, which may require monitoring through standard lipid panels. There is also a slightly elevated risk of endometrial cancer associated with this genetic profile. Overall, the reduced cardiovascular and hematological risks make this genotype generally favorable, despite the metabolic trade-offs.
Lower risk of high blood pressure; Reduced risk of coronary artery disease; Slightly higher LDL cholesterol levels.
Variants with shared genetic architecture
rs10774624 · SH2B3 Gene · Chr 12 · Autoimmune and Heart Risk
rs3184504 · SH2B3 Gene · Chr 12 · Celiac Disease Risk
rs10857147 · FGF5 Gene · Chr 4 · Blood Pressure
Content updated August 2026.
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