{{Rsnum
|rsid=560887
|Gene=G6PC2
|Chromosome=2
|position=169763148
|Orientation=minus
|GMAF=0.1515
|Assembly=GRCh37
|GenomeBuild=37.1
|dbSNPBuild=131
|geno1=(A;A)
|geno2=(A;G)
|geno3=(G;G)
}}
{{ population diversity
| geno1=(A;A)
| geno2=(A;G)
| geno3=(G;G)
| CEU | 9.8 | 45.5 | 44.6
| HCB | 0.0 | 2.9 | 97.1
| JPT | 0.0 | 7.1 | 92.9
| YRI | 0.0 | 0.7 | 99.3
| ASW | 0.0 | 0.0 | 0.0
| CHB | 0.0 | 2.9 | 97.1
| CHD | 0.0 | 4.6 | 95.4
| GIH | 3.0 | 24.8 | 72.3
| LWK | 0.0 | 0.9 | 99.1
| MEX | 0.0 | 33.9 | 66.1
| MKK | 0.0 | 10.9 | 89.1
| TSI | 7.8 | 38.2 | 53.9
| HapMapRevision=28
}}

{{PMID|18451265}} [[rs560887]], p = 4 x 10(-7)) 
*654 normoglycemic subjects, replicated in 9,353 subjects
*fasting plasma glucose (FPG) (beta = -0.06 mmol/l per A-allele, combined p = 4 x 10(-23)) and with pancreatic beta-cell function (Homa-B model, combined p = 3 x 10(-13)) in three populations; however it was not associated with [[type 2 diabetes]] risk.

{{GWAS Summary
|SNP=rs560887
|PubMedID=18451265
|Condition=Fasting plasma glucose
|Gene=G6PC2
|Risk Allele=A
|pValue=4.00E-023
|OR=0.06
|95CI=0.05-0.08) mmol/l decreas
}}

{{PMID Auto GWAS
|PMID=19060910
|Trait=Other metabolic traits
|Title=Genome-wide association analysis of metabolic traits in a birth cohort from a founder population
|RiskAllele=A
|Pval=6E-10
|OR=0.06
|ORtxt=[0.04-0.07] mmol/l decrease
|OA=1
}}
{{PMID Auto GWAS
|PMID=19060907
|Trait=Fasting plasma glucose
|Title=Variants in MTNR1B influence fasting glucose levels
|RiskAllele=C
|Pval=1E-57
|OR=0.06
|ORtxt=[0.05-0.07] mmol/l increase
|OA=1
}}

{{omim
|desc=FASTING PLASMA GLUCOSE LEVEL QUANTITATIVE TRAIT LOCUS 1; FGQTL1
|id=612108
|rsnum=560887
}}
{{PMID Auto
|PMID=19651812
|Title=Common genetic variation near melatonin receptor MTNR1B contributes to raised plasma glucose and increased risk of type-2 diabetes amongst Indian Asians and European whites
|OA=1
}}
{{PMID Auto
|PMID=19741166
|Title=Common Genetic Determinants of Glucose Homeostasis in Healthy Children: The European Youth Heart Study (EYHS)
|OA=1
}}

{{PharmGKB
|RSID=rs560887
|Name_s=
|Gene_s=G6PC2
|Feature=
|Evidence=PubMed ID:20081858
|Annotation=Phenotype 1: In a meta-analysis of 21 GWAS cohorts followed by analysis in additional individuals, this SNP was found to be associated with fasting glucose level. Study size: 119,169. Significance metric(s): p = 8.7 x 10(-218). Phenotype 2: In the same study, this SNP was found to be associated with HOMA-B (homeostasis model assessment of beta-cell function). Study size: 94,839. Significance metric(s): p = 1.5 x 10(-66). Study population/ethnicity: Non-diabetic Individuals of European descent. Type of association: CO;GN.
|Drugs=
|Drug Classes=
|Diseases=Diabetes Mellitus, Type 2
|Curation Level=Curated
|PharmGKB Accession ID=PA165281933
}}
{{PMID Auto
|PMID=20029179
|Title=Association of a Common G6PC2 Variant with Fasting Plasma Glucose Levels in Non-Diabetic Individuals
|OA=1
}}

{{PMID Auto GWAS
|PMID=20081858
|Trait=Fasting glucose-related traits
|Title=New genetic loci implicated in fasting glucose homeostasis and their impact on type 2 diabetes risk
|RiskAllele=C
|Pval=2E-66
|OR=None
|ORtxt=None
|OA=1
}}

{{PMID Auto
|PMID=20826583
|Title=The Impact of Genetic Variation in the G6PC2 Gene on Insulin Secretion Depends on Glycemia
}}
{{PMID Auto
|PMID=20839289
|Title=Impact of repeated measures and sample selection on genome-wide association studies of fasting glucose
|OA=1
}}

{{PharmGKB
|RSID=rs560887
|Name_s=
|Gene_s=G6PC2
|Feature=
|Evidence=PubMed ID:18451265
|Annotation=This SNP is associated with fasting plasma glucose levels and with glycated hemoglobin A1C levels but not with risk for Type 2 Diabetes.
|Drugs=
|Drug Classes=
|Diseases=Coronary Disease
|Curation Level=Curated
|PharmGKB Accession ID=PA161615758
}}

{{PharmGKB
|RSID=rs560887
|Name_s=
|Gene_s=G6PC2
|Feature=
|Evidence=PubMed ID:18451265; Web Resource:http://www.genome.gov/gwastudies/
|Annotation=GWAS Results: A Polymorphism Within the G6PC2 Gene is Associated with Fasting Plasma Glucose Levels (Initial Sample Size: 654 normoglycemic individuals; Replication Sample Size: 9,353 individuals; Risk Allele: rs560887-A). This variant is associated with Fasting plasma glucose.
|Drugs=
|Drug Classes=
|Diseases=
|Curation Level=Non-Curated
|PharmGKB Accession ID=PA162356397
}}

{{PharmGKB
|RSID=rs560887
|Name_s=
|Gene_s=G6PC2
|Feature=
|Evidence=PubMed ID:19060907; Web Resource:http://www.genome.gov/gwastudies/
|Annotation=GWAS results: Variants in MTNR1B influence fasting glucose levels. (Initial Sample Size: 35,812 individuals; Replication Sample Size: NR); (Region: 2q24.3; Reported Gene(s): G6PC2; Risk Allele: rs560887-C); (p-value= 1E-57).This variant is associated with Fasting plasma glucose.
|Drugs=
|Drug Classes=
|Diseases=
|Curation Level=Non-Curated
|PharmGKB Accession ID=PA164740302
}}

{{PharmGKB
|RSID=rs560887
|Name_s=
|Gene_s=G6PC2
|Feature=
|Evidence=PubMed ID:19060910; Web Resource:http://www.genome.gov/gwastudies/
|Annotation=GWAS results: Genome-wide association analysis of metabolic traits in a birth cohort from a founder population. (Initial Sample Size: 4,763 individuals; Replication Sample Size: NR); (Region: 2q24.3; Reported Gene(s): G6PC2, ABCB11; Risk Allele: rs560887-A); (p-value= 0.0000000006).This variant is associated with Other metabolic traits.
|Drugs=
|Drug Classes=
|Diseases=
|Curation Level=Non-Curated
|PharmGKB Accession ID=PA164740287
}}
{{PMID Auto
|PMID=21036910
|Title=Association of a fasting glucose genetic risk score with subclinical atherosclerosis: The Atherosclerosis Risk in Communities (ARIC) Study
|OA=1
}}

{{PMID Auto GWAS
|PMID=22508271
|Trait=None
|Title=Fasting glucose GWAS candidate region analysis across ethnic groups in the Multiethnic Study of Atherosclerosis (MESA).
|RiskAllele=T
|Pval=0.000002
|OR=1.2900
|ORtxt=None
|OA=1
}}

{{PMID Auto GWAS
|PMID=22399527
|Trait=None
|Title=Genome-wide screen for metabolic syndrome susceptibility Loci reveals strong lipid gene contribution but no evidence for common genetic basis for clustering of metabolic syndrome traits.
|RiskAllele=G
|Pval=5E-26
|OR=0.1500
|ORtxt=None
|OA=1
}}

{{PMID Auto GWAS
|PMID=22286219
|Trait=None
|Title=Genome-wide association study identifies multiple loci influencing human serum metabolite levels.
|RiskAllele=
|Pval=2E-17
|OR=0.1500
|ORtxt=None
|OA=1
}}

{{PMID Auto
|PMID=18521185
|Title=Variations in the G6PC2/ABCB11 genomic region are associated with fasting glucose levels.
|OA=1
}}

{{PMID Auto
|PMID=18984742
|Title=A single-nucleotide polymorphism in a methylatable Foxa2 binding site of the G6PC2 promoter is associated with insulin secretion in vivo and increased promoter activity in vitro.
|OA=1
}}

{{PMID Auto
|PMID=19096518
|Title=Novel association of HK1 with glycated hemoglobin in a non-diabetic population: a genome-wide evaluation of 14,618 participants in the Women's Genome Health Study.
|OA=1
}}

{{PMID Auto
|PMID=19533084
|Title=Combined effects of single-nucleotide polymorphisms in GCK, GCKR, G6PC2 and MTNR1B on fasting plasma glucose and type 2 diabetes risk.
|OA=1
}}

{{PMID Auto
|PMID=19669124
|Title=A variant in the G6PC2/ABCB11 locus is associated with increased fasting plasma glucose, increased basal hepatic glucose production and increased insulin release after oral and intravenous glucose loads.
}}

{{PMID Auto
|PMID=19741163
|Title=Additive effects of genetic variation in GCK and G6PC2 on insulin secretion and fasting glucose.
|OA=1
}}

{{PMID Auto
|PMID=19937311
|Title=Common variants at the GCK, GCKR, G6PC2-ABCB11 and MTNR1B loci are associated with fasting glucose in two Asian populations.
}}

{{PMID Auto
|PMID=20043853
|Title=Prioritizing genes for follow-up from genome wide association studies using information on gene expression in tissues relevant for type 2 diabetes mellitus.
|OA=1
}}

{{PMID Auto
|PMID=20622168
|Title=Genetic and functional assessment of the role of the rs13431652-A and rs573225-A alleles in the G6PC2 promoter that are strongly associated with elevated fasting glucose levels.
|OA=1
}}

{{PMID Auto
|PMID=20628598
|Title=Common polymorphisms in MTNR1B, G6PC2 and GCK are associated with increased fasting plasma glucose and impaired beta-cell function in Chinese subjects.
|OA=1
}}

{{PMID Auto
|PMID=20870969
|Title=Genetic predisposition to long-term nondiabetic deteriorations in glucose homeostasis: Ten-year follow-up of the GLACIER study.
|OA=1
}} ([[ageing]])

{{PMID Auto GWAS
|PMID=22581228
|Trait=None
|Title=A genome-wide approach accounting for body mass index identifies genetic variants influencing fasting glycemic traits and insulin resistance.
|RiskAllele=
|Pval=2E-113
|OR=None
|ORtxt=None
|OA=1
}}

{{GET Evidence
|impact=pathogenic
|qualified_impact=Insufficiently evaluated pathogenic
|inheritance=unknown
|quality_scores=Array
|dbsnp_id=rs560887
|overall_frequency_n=8532
|overall_frequency_d=10758
|overall_frequency=0.793084
|n_genomes=49
|n_genomes_annotated=0
|n_haplomes=84
|n_articles=2
|n_articles_annotated=0
|in_gwas=Y
|in_pharmgkb=Y
|autoscore=2
|webscore=N
}}

[[Blood Glucose]]

{{PMID Auto
|PMID=23508304
|Title=Multiple functional polymorphisms in the G6PC2 gene contribute to the association with higher fasting plasma glucose levels
}}

{{PMID Auto GWAS
  |PMID=22916037
  |Trait=Metabolite levels
  |Title=Novel Loci for metabolic networks and multi-tissue expression studies reveal genes for atherosclerosis.
  |RiskAllele=
  |Pval=4E-15
  |OR=NR
  |ORtxt=NR
  |OA=1
}}

{{PMID Auto
|PMID=23840762
|Title=Large Scale Meta-Analyses of Fasting Plasma Glucose Raising Variants in GCK, GCKR, MTNR1B and G6PC2 and Their Impacts on Type 2 Diabetes Mellitus Risk
|OA=1
}}

{{PMID Auto
|PMID=22438186
|Title=A SNP in G6PC2 predicts insulin secretion in [[type 1 diabetes]]
}}

{{PMID Auto GWAS
  |PMID=23903356
  |Trait=Glycemic traits (pregnancy)
  |Title=Identification of HKDC1 and BACE2 as genes influencing glycemic traits during pregnancy through genome-wide association studies.
  |RiskAllele=T
  |Pval=2E-16
  |OR=.01
  |ORtxt=[NR] unit decrease
  }}

{{PMID Auto
|PMID=22486180
|Title=HbA1c-based diabetes diagnosis among patients with glucokinase mutation (GCK-MODY) is affected by a genetic variant of glucose-6-phosphatase (G6PC2).
}}

{{PMID Auto
|PMID=22698489
|Title=Nonfasting glucose, ischemic heart disease, and myocardial infarction: a Mendelian randomization study.
}}

{{PMID Auto GWAS
  |PMID=24405752
  |Trait=Glycated hemoglobin levels
  |Title=Genome-wide association study identifies common loci influencing circulating glycated hemoglobin (HbA1c) levels in non-diabetic subjects: the Long Life Family Study (LLFS).
  |RiskAllele=T
  |Pval=1E-17
  |OR=.03
  |ORtxt=[0.024-0.040] unit decrease
  }}
{{on chip | 23andMe v1}}
{{on chip | 23andMe v2}}
{{on chip | 23andMe v3}}
{{on chip | 23andMe v4}}
{{on chip | Affy GenomeWide 6}}
{{on chip | HumanOmni1Quad}}
{{on chip | Illumina Human 1M}}