rs780094
A SNP in the GCKR gene on chromosome 2. Its most notable genotype is T;T: metabolic consequences
- Gene
- GCKR
- Location
- Chr 227,518,370 (GRCh38)
- Highest magnitude
- 0.0Typical
- Tested on
- 23andMe, AncestryDNA
- Minor allele frequency
- 39%
Genotypes
Plus strand, as in 23andMe and AncestryDNA files.
SNPedia records rs780094 on the minus strand: (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 10 HapMap populations.
- AverageT;T 15% C;T 38% C;C 46%
- European ancestry (Utah)T;T 15% C;T 49% C;C 36%
- Han Chinese (Beijing)T;T 32% C;T 49% C;C 19%
- Japanese (Tokyo)T;T 34% C;T 46% C;C 20%
- Yoruba (Nigeria)T;T 2% C;T 20% C;C 78%
- African ancestry (Southwest US)T;T 0% C;T 30% C;C 70%
- Chinese (Denver)T;T 32% C;T 45% C;C 23%
- Gujarati IndianT;T 3% C;T 34% C;C 63%
- Luhya (Kenya)T;T <1% C;T 17% C;C 83%
- Mexican ancestry (Los Angeles)T;T 12% C;T 39% C;C 49%
- TuscanT;T 23% C;T 56% C;C 22%
Related
Conditions, medicines and genes
Notes
From SNPedia
Show notes, about 280 words
rs780094, a SNP in the GCKR gene encoding the glucokinase regulatory protein, contributes to the risk of type-2 diabetes and dyslipidaemia in mulitple populations. The effect on type 2 diabetes is probably mediated through impaired beta cell function rather than through obesity. The rs780094(A) risk allele is associated with the following traits : * higher levels of fasting serum triacylglycerol * impaired fasting and OGTT-related insulin release * dyslipidemia * somewhat reduced risk of type-2 diabetes There may also be an additive effect between this SNP and a SNP known as 'GCK -30A', rs1799884, at least on fasting serum insulin levels. rs780094 influences severe hypertriglyceridemia. 132 patients of European ancestry with severe HTG (fasting plasma TG>10 mmol/L), and 351 matched normolipidemic controls. rs780094 may be acting as a proxy for a nearby tightly linked (r(2)=0.93) SNP, rs1260326, which encodes a common missense GCKR variant. Both are linked to opposite effects on fasting plasma triglyceride and glucose concentrations, and, associated with C-reactive protein levels. {{PMID Auto |PMID=21411509 |Title=Variants of GCKR Affect Both {beta}-Cell and Kidney Function in Patients With Newly Diagnosed Type 2 Diabetes: The Verona Newly Diagnosed Type 2 Diabetes Study 2 |OA=1 }} In a study conducted on 6,580 Nondiabetic Finnish Men, the glucose-increasing allele of rs780094 in GCKR was significantly associated with low concentrations of VLDL particles (independently of their size) and small LDL and was nominally associated with low concentrations of intermediate-density lipoprotein, all LDL subclasses, and high concentrations of very large and large HDL particles.
Source and license
Adapted from rs780094 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.