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dbSNP Short Genetic Variations

Reference SNP (rs) Report

This page reports data for a single dbSNP Reference SNP variation (RefSNP or rs) from the new redesigned dbSNP build.
Top of the page reports a concise summary for the rs, with more specific details included in the corresponding tabs below.
All alleles are reported in the Forward orientation. Use the Genomic View to inspect the nucleotides flanking the variant, and its neighbors.
For more information see Help documentation.

rs780094

Current Build 152

Released October 2, 2018

Organism
Homo sapiens
Position
chr2:27518370 (GRCh38.p12) Help

The anchor position for this RefSNP. Includes all nucleotides potentially affected by this change, thus it can differ from HGVS, which is right-shifted. See here for details.

Alleles
T>C
Variation Type
SNV Single Nucleotide Variation
Frequency
T=0.33880 (42542/125568, TOPMED)
T=0.3298 (10189/30896, GnomAD)
T=0.302 (1511/5008, 1000G) (+ 3 more)
T=0.376 (1686/4480, Estonian)
T=0.388 (1497/3854, ALSPAC)
T=0.385 (1426/3708, TWINSUK)
Clinical Significance
Not Reported in ClinVar
Gene : Consequence
GCKR : Intron Variant
Publications
225 citations
Genomic View
See rs on genome
Help

Variant Details tab shows known variant placements on genomic sequences: chromosomes (NC_), RefSeqGene, pseudogenes or genomic regions (NG_), and in a separate table: on transcripts (NM_) and protein sequences (NP_). The corresponding transcript and protein locations are listed in adjacent lines, along with molecular consequences from Sequence Ontology. When no protein placement is available, only the transcript is listed. Column "Codon[Amino acid]" shows the actual base change in the format of "Reference > Alternate" allele, including the nucleotide codon change in transcripts, and the amino acid change in proteins, respectively, allowing for known ribosomal slippage sites. To view nucleotides adjacent to the variant use the Genomic View at the bottom of the page - zoom into the sequence until the nucleotides around the variant become visible.

Genomic Placements
Sequence name Change
GRCh38.p12 chr 2 NC_000002.12:g.27518370T>C
GRCh37.p13 chr 2 NC_000002.11:g.27741237T>C
GCKR RefSeqGene NG_028024.1:g.26532T>C
Gene: GCKR, glucokinase regulator (plus strand)
Molecule type Change Amino acid[Codon] SO Term
GCKR transcript NM_001486.3:c. N/A Intron Variant
GCKR transcript variant X1 XM_017003796.1:c. N/A Intron Variant
GCKR transcript variant X2 XM_017003797.1:c. N/A Intron Variant
GCKR transcript variant X4 XM_011532763.1:c. N/A Genic Downstream Transcript Variant
GCKR transcript variant X3 XR_001738699.1:n. N/A Genic Downstream Transcript Variant
Help

Clinical Significance tab shows a list of clinical significance entries from ClinVar associated with the variation, per allele. Click on the RCV accession (i.e. RCV000001615.2) or Allele ID (i.e. 12274) to access full ClinVar report.

Not Reported in ClinVar
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Frequency tab displays a table of the reference and alternate allele frequencies reported by various studies and populations. Table lines, where Population="Global" refer to the entire study population, whereas lines, where Group="Sub", refer to a study-specific population subgroupings (i.e. AFR, CAU, etc.), if available. Frequency for the alternate allele (Alt Allele) is a ratio of samples observed-to-total, where the numerator (observed samples) is the number of chromosomes in the study with the minor allele present (found in "Sample size", where Group="Sub"), and the denominator (total samples) is the total number of all chromosomes in the study for the variant (found in "Sample size", where Group="Study-wide" and Population="Global").

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Study Population Group Sample Size Ref Allele Alt Allele
TopMed Global Study-wide 125568 T=0.33880 C=0.66120
gnomAD - Genomes Global Study-wide 30896 T=0.3298 C=0.6702
gnomAD - Genomes European Sub 18452 T=0.3896 C=0.6104
gnomAD - Genomes African Sub 8720 T=0.164 C=0.836
gnomAD - Genomes East Asian Sub 1612 T=0.483 C=0.517
gnomAD - Genomes Other Sub 976 T=0.37 C=0.63
gnomAD - Genomes American Sub 834 T=0.31 C=0.69
gnomAD - Genomes Ashkenazi Jewish Sub 302 T=0.55 C=0.45
1000Genomes Global Study-wide 5008 T=0.302 C=0.698
1000Genomes African Sub 1322 T=0.132 C=0.868
1000Genomes East Asian Sub 1008 T=0.476 C=0.524
1000Genomes Europe Sub 1006 T=0.411 C=0.589
1000Genomes South Asian Sub 978 T=0.20 C=0.80
1000Genomes American Sub 694 T=0.36 C=0.64
Genetic variation in the Estonian population Estonian Study-wide 4480 T=0.376 C=0.624
The Avon Longitudinal Study of Parents and Children PARENT AND CHILD COHORT Study-wide 3854 T=0.388 C=0.612
UK 10K study - Twins TWIN COHORT Study-wide 3708 T=0.385 C=0.615
Help

Aliases tab displays HGVS names representing the variant placements and allele changes on genomic, transcript and protein sequences, per allele. HGVS name is an expression for reporting sequence accession and version, sequence type, position, and allele change. The column "Note" can have two values: "diff" means that there is a difference between the reference allele (variation interval) at the placement reported in HGVS name and the reference alleles reported in other HGVS names, and "rev" means that the sequence of this variation interval at the placement reported in HGVS name is in reverse orientation to the sequence(s) of this variation in other HGVS names not labeled as "rev".

Placement T= C Note
GRCh38.p12 chr 2 NC_000002.12:g.27518370T= NC_000002.12:g.27518370T>C
GRCh37.p13 chr 2 NC_000002.11:g.27741237T= NC_000002.11:g.27741237T>C
GCKR RefSeqGene NG_028024.1:g.26532T= NG_028024.1:g.26532T>C
Help

Submissions tab displays variations originally submitted to dbSNP, now supporting this RefSNP cluster (rs). We display Submitter handle, Submission identifier, Date and Build number, when the submission appeared for the first time. Direct submissions to dbSNP have Submission ID in the form of an ss-prefixed number (ss#). Other supporting variations are listed in the table without ss#.

124 SubSNP, 6 Frequency submissions
No Submitter Submission ID Date (Build)
1 KWOK ss916206 Oct 05, 2000 (86)
2 KWOK ss1932532 Oct 18, 2000 (87)
3 SC_JCM ss2568776 Nov 08, 2000 (89)
4 WUGSC_SSAHASNP ss14468184 Dec 05, 2003 (119)
5 CSHL-HAPMAP ss16811923 Feb 27, 2004 (120)
6 CSHL-HAPMAP ss19411175 Feb 27, 2004 (120)
7 PERLEGEN ss24292592 Sep 20, 2004 (123)
8 ABI ss44161685 Mar 15, 2006 (126)
9 AFFY ss66079308 Dec 01, 2006 (127)
10 ILLUMINA ss66819341 Dec 01, 2006 (127)
11 ILLUMINA ss67832686 Dec 01, 2006 (127)
12 ILLUMINA ss67992447 Dec 01, 2006 (127)
13 PERLEGEN ss68807513 May 18, 2007 (127)
14 ILLUMINA ss70950859 May 25, 2008 (130)
15 ILLUMINA ss71557004 May 18, 2007 (127)
16 ILLUMINA ss75835441 Dec 06, 2007 (129)
17 AFFY ss76018619 Dec 06, 2007 (129)
18 HGSV ss77813214 Dec 06, 2007 (129)
19 ILLUMINA ss79270547 Dec 15, 2007 (130)
20 HGSV ss80664729 Dec 15, 2007 (130)
21 KRIBB_YJKIM ss83561769 Dec 15, 2007 (130)
22 HGSV ss85211711 Dec 15, 2007 (130)
23 BCMHGSC_JDW ss91096580 Mar 24, 2008 (129)
24 BGI ss106077050 Feb 05, 2009 (130)
25 1000GENOMES ss109344759 Jan 24, 2009 (130)
26 1000GENOMES ss109988731 Jan 24, 2009 (130)
27 ILLUMINA-UK ss117633191 Dec 01, 2009 (131)
28 ILLUMINA ss122837562 Dec 01, 2009 (131)
29 ENSEMBL ss138409903 Dec 01, 2009 (131)
30 ILLUMINA ss154448382 Dec 01, 2009 (131)
31 ILLUMINA ss159623131 Dec 01, 2009 (131)
32 ILLUMINA ss160916411 Dec 01, 2009 (131)
33 ENSEMBL ss161254938 Dec 01, 2009 (131)
34 COMPLETE_GENOMICS ss163221793 Jul 04, 2010 (132)
35 COMPLETE_GENOMICS ss164049881 Jul 04, 2010 (132)
36 COMPLETE_GENOMICS ss166319554 Jul 04, 2010 (132)
37 ILLUMINA ss172350196 Jul 04, 2010 (132)
38 ILLUMINA ss174556145 Jul 04, 2010 (132)
39 PAGE_STUDY ss181834421 Jul 04, 2010 (132)
40 PAGE_STUDY ss181835961 Jul 04, 2010 (132)
41 PAGE_STUDY ss182258756 Jul 04, 2010 (132)
42 BUSHMAN ss200192872 Jul 04, 2010 (132)
43 BCM-HGSC-SUB ss205714753 Jul 04, 2010 (132)
44 1000GENOMES ss219134027 Jul 14, 2010 (132)
45 1000GENOMES ss231086333 Jul 14, 2010 (132)
46 1000GENOMES ss238660106 Jul 15, 2010 (132)
47 ILLUMINA ss244310972 Jul 04, 2010 (132)
48 GMI ss276394992 May 04, 2012 (137)
49 GMI ss284312649 Apr 25, 2013 (138)
50 PJP ss292532137 May 09, 2011 (134)
51 ILLUMINA ss410952196 Sep 17, 2011 (135)
52 ILLUMINA ss481679682 May 04, 2012 (137)
53 ILLUMINA ss481710608 May 04, 2012 (137)
54 ILLUMINA ss482678043 Sep 08, 2015 (146)
55 ILLUMINA ss485634542 May 04, 2012 (137)
56 EXOME_CHIP ss491316761 May 04, 2012 (137)
57 ILLUMINA ss537515953 Sep 08, 2015 (146)
58 TISHKOFF ss555433109 Apr 25, 2013 (138)
59 SSMP ss649013440 Apr 25, 2013 (138)
60 ILLUMINA ss778615575 Sep 08, 2015 (146)
61 ILLUMINA ss780686830 Sep 08, 2015 (146)
62 ILLUMINA ss783262852 Sep 08, 2015 (146)
63 ILLUMINA ss783360366 Sep 08, 2015 (146)
64 ILLUMINA ss784216243 Sep 08, 2015 (146)
65 ILLUMINA ss825601065 Apr 01, 2015 (144)
66 ILLUMINA ss832523797 Sep 08, 2015 (146)
67 ILLUMINA ss834073016 Sep 08, 2015 (146)
68 EVA-GONL ss976615263 Aug 21, 2014 (142)
69 JMKIDD_LAB ss1068952966 Aug 21, 2014 (142)
70 1000GENOMES ss1296398822 Aug 21, 2014 (142)
71 HAMMER_LAB ss1397285916 Sep 08, 2015 (146)
72 DDI ss1428514624 Apr 01, 2015 (144)
73 EVA_GENOME_DK ss1578790758 Apr 01, 2015 (144)
74 EVA_DECODE ss1586019932 Apr 01, 2015 (144)
75 EVA_UK10K_ALSPAC ss1603069543 Apr 01, 2015 (144)
76 EVA_UK10K_TWINSUK ss1646063576 Apr 01, 2015 (144)
77 EVA_SVP ss1712440204 Apr 01, 2015 (144)
78 ILLUMINA ss1752350624 Sep 08, 2015 (146)
79 ILLUMINA ss1752350625 Sep 08, 2015 (146)
80 HAMMER_LAB ss1796455049 Sep 08, 2015 (146)
81 ILLUMINA ss1917747315 Feb 12, 2016 (147)
82 WEILL_CORNELL_DGM ss1919847461 Feb 12, 2016 (147)
83 ILLUMINA ss1946035449 Feb 12, 2016 (147)
84 ILLUMINA ss1946035450 Feb 12, 2016 (147)
85 ILLUMINA ss1958400207 Feb 12, 2016 (147)
86 GENOMED ss1968722010 Jul 19, 2016 (147)
87 JJLAB ss2020452187 Sep 14, 2016 (149)
88 ILLUMINA ss2094805767 Dec 20, 2016 (150)
89 ILLUMINA ss2095088867 Dec 20, 2016 (150)
90 USC_VALOUEV ss2148496694 Dec 20, 2016 (150)
91 HUMAN_LONGEVITY ss2228533223 Dec 20, 2016 (150)
92 TOPMED ss2394448721 Dec 20, 2016 (150)
93 SYSTEMSBIOZJU ss2624741560 Nov 08, 2017 (151)
94 ILLUMINA ss2633587600 Nov 08, 2017 (151)
95 ILLUMINA ss2635087330 Nov 08, 2017 (151)
96 GRF ss2703057754 Nov 08, 2017 (151)
97 ILLUMINA ss2710894685 Nov 08, 2017 (151)
98 GNOMAD ss2771107577 Nov 08, 2017 (151)
99 AFFY ss2985162605 Nov 08, 2017 (151)
100 AFFY ss2985786860 Nov 08, 2017 (151)
101 SWEGEN ss2989173786 Nov 08, 2017 (151)
102 ILLUMINA ss3021952578 Nov 08, 2017 (151)
103 BIOINF_KMB_FNS_UNIBA ss3023992411 Nov 08, 2017 (151)
104 TOPMED ss3302467618 Nov 08, 2017 (151)
105 CSHL ss3344130427 Nov 08, 2017 (151)
106 ILLUMINA ss3625750427 Oct 11, 2018 (152)
107 ILLUMINA ss3628018938 Oct 11, 2018 (152)
108 ILLUMINA ss3628018939 Oct 11, 2018 (152)
109 ILLUMINA ss3631556104 Oct 11, 2018 (152)
110 ILLUMINA ss3633192943 Oct 11, 2018 (152)
111 ILLUMINA ss3633904279 Oct 11, 2018 (152)
112 ILLUMINA ss3634756900 Oct 11, 2018 (152)
113 ILLUMINA ss3635590723 Oct 11, 2018 (152)
114 ILLUMINA ss3636442744 Oct 11, 2018 (152)
115 ILLUMINA ss3637342553 Oct 11, 2018 (152)
116 ILLUMINA ss3638248939 Oct 11, 2018 (152)
117 ILLUMINA ss3639129168 Oct 11, 2018 (152)
118 ILLUMINA ss3639576038 Oct 11, 2018 (152)
119 ILLUMINA ss3640464204 Oct 11, 2018 (152)
120 ILLUMINA ss3643219918 Oct 11, 2018 (152)
121 ILLUMINA ss3644738146 Oct 11, 2018 (152)
122 ILLUMINA ss3652381917 Oct 11, 2018 (152)
123 ILLUMINA ss3652381918 Oct 11, 2018 (152)
124 ILLUMINA ss3653933333 Oct 11, 2018 (152)
125 1000Genomes NC_000002.11 - 27741237 Oct 11, 2018 (152)
126 The Avon Longitudinal Study of Parents and Children NC_000002.11 - 27741237 Oct 11, 2018 (152)
127 Genetic variation in the Estonian population NC_000002.11 - 27741237 Oct 11, 2018 (152)
128 gnomAD - Genomes NC_000002.11 - 27741237 Oct 11, 2018 (152)
129 TopMed NC_000002.12 - 27518370 Oct 11, 2018 (152)
130 UK 10K study - Twins NC_000002.11 - 27741237 Oct 11, 2018 (152)
Help

History tab displays RefSNPs (Associated ID) from previous builds (Build) that now support the current RefSNP, and the dates, when the history was updated for each Associated ID (History Updated).

Associated ID History Updated (Build)
rs17705107 Oct 08, 2004 (123)
rs59441336 May 25, 2008 (130)
rs386613275 Aug 21, 2014 (142)
Added to this RefSNP Cluster:
Submission ids Observation SPDI Canonical SPDI Source RSIDs
ss77813214, ss80664729, ss85211711, ss3639129168, ss3639576038 NC_000002.9:27652887:T:C NC_000002.12:27518369:T:C (self)
ss66079308, ss76018619, ss91096580, ss109344759, ss109988731, ss117633191, ss160916411, ss163221793, ss164049881, ss166319554, ss200192872, ss205714753, ss244310972, ss276394992, ss284312649, ss292532137, ss481679682, ss825601065, ss1397285916, ss1586019932, ss1712440204, ss2635087330, ss3643219918 NC_000002.10:27594740:T:C NC_000002.12:27518369:T:C (self)
7317276, 4061658, 2866602, 100597438, 4061658, ss219134027, ss231086333, ss238660106, ss481710608, ss482678043, ss485634542, ss491316761, ss537515953, ss555433109, ss649013440, ss778615575, ss780686830, ss783262852, ss783360366, ss784216243, ss832523797, ss834073016, ss976615263, ss1068952966, ss1296398822, ss1428514624, ss1578790758, ss1603069543, ss1646063576, ss1752350624, ss1752350625, ss1796455049, ss1917747315, ss1919847461, ss1946035449, ss1946035450, ss1958400207, ss1968722010, ss2020452187, ss2094805767, ss2095088867, ss2148496694, ss2394448721, ss2624741560, ss2633587600, ss2703057754, ss2710894685, ss2771107577, ss2985162605, ss2985786860, ss2989173786, ss3021952578, ss3344130427, ss3625750427, ss3628018938, ss3628018939, ss3631556104, ss3633192943, ss3633904279, ss3634756900, ss3635590723, ss3636442744, ss3637342553, ss3638248939, ss3640464204, ss3644738146, ss3652381917, ss3652381918, ss3653933333 NC_000002.11:27741236:T:C NC_000002.12:27518369:T:C (self)
188549378, ss2228533223, ss3023992411, ss3302467618 NC_000002.12:27518369:T:C NC_000002.12:27518369:T:C (self)
ss14468184, ss16811923, ss19411175 NT_022184.13:6557169:T:C NC_000002.12:27518369:T:C (self)
ss916206, ss1932532, ss2568776, ss24292592, ss44161685, ss66819341, ss67832686, ss67992447, ss68807513, ss70950859, ss71557004, ss75835441, ss79270547, ss83561769, ss106077050, ss122837562, ss138409903, ss154448382, ss159623131, ss161254938, ss172350196, ss174556145, ss181834421, ss181835961, ss182258756, ss410952196 NT_022184.15:6563123:T:C NC_000002.12:27518369:T:C (self)
Help

Publications tab displays PubMed articles citing the variation as a listing of PMID, Title, Author, Year, Journal, ordered by Year, descending.

225 citations for rs780094
PMID Title Author Year Journal
17903299 A genome-wide association study for blood lipid phenotypes in the Framingham Heart Study. Kathiresan S et al. 2007 BMC medical genetics
18008060 The GCKR rs780094 polymorphism is associated with elevated fasting serum triacylglycerol, reduced fasting and OGTT-related insulinaemia, and reduced risk of type 2 diabetes. Sparsø T et al. 2008 Diabetologia
18179892 Genome-wide association study identifies genes for biomarkers of cardiovascular disease: serum urate and dyslipidemia. Wallace C et al. 2008 American journal of human genetics
18193044 Six new loci associated with blood low-density lipoprotein cholesterol, high-density lipoprotein cholesterol or triglycerides in humans. Kathiresan S et al. 2008 Nature genetics
18439548 Loci related to metabolic-syndrome pathways including LEPR,HNF1A, IL6R, and GCKR associate with plasma C-reactive protein: the Women's Genome Health Study. Ridker PM et al. 2008 American journal of human genetics
18439552 Polymorphisms of the HNF1A gene encoding hepatocyte nuclear factor-1 alpha are associated with C-reactive protein. Reiner AP et al. 2008 American journal of human genetics
18521185 Variations in the G6PC2/ABCB11 genomic region are associated with fasting glucose levels. Chen WM et al. 2008 The Journal of clinical investigation
18556336 The common P446L polymorphism in GCKR inversely modulates fasting glucose and triglyceride levels and reduces type 2 diabetes risk in the DESIR prospective general French population. Vaxillaire M et al. 2008 Diabetes
18587394 Genome-wide association defines more than 30 distinct susceptibility loci for Crohn's disease. Barrett JC et al. 2008 Nature genetics
18596051 Polygenic determinants of severe hypertriglyceridemia. Wang J et al. 2008 Human molecular genetics
18678614 Common missense variant in the glucokinase regulatory protein gene is associated with increased plasma triglyceride and C-reactive protein but lower fasting glucose concentrations. Orho-Melander M et al. 2008 Diabetes
18852197 Metabolic and cardiovascular traits: an abundance of recently identified common genetic variants. Mohlke KL et al. 2008 Human molecular genetics
19056598 Association between glucokinase regulatory protein (GCKR) and apolipoprotein A5 (APOA5) gene polymorphisms and triacylglycerol concentrations in fasting, postprandial, and fenofibrate-treated states. Perez-Martinez P et al. 2009 The American journal of clinical nutrition
19060907 Variants in MTNR1B influence fasting glucose levels. Prokopenko I et al. 2009 Nature genetics
19060910 Genome-wide association analysis of metabolic traits in a birth cohort from a founder population. Sabatti C et al. 2009 Nature genetics
19060911 Loci influencing lipid levels and coronary heart disease risk in 16 European population cohorts. Aulchenko YS et al. 2009 Nature genetics
19068216 Investigation of Crohn's disease risk loci in ulcerative colitis further defines their molecular relationship. Anderson CA et al. 2009 Gastroenterology
19073768 Interaction effect of genetic polymorphisms in glucokinase (GCK) and glucokinase regulatory protein (GCKR) on metabolic traits in healthy Chinese adults and adolescents. Tam CH et al. 2009 Diabetes
19096518 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. Paré G et al. 2008 PLoS genetics
19111066 Lack of association between PKLR rs3020781 and NOS1AP rs7538490 and type 2 diabetes, overweight, obesity and related metabolic phenotypes in a Danish large-scale study: case-control studies and analyses of quantitative traits. Andreasen CH et al. 2008 BMC medical genetics
19148283 Genetic differences between the determinants of lipid profile phenotypes in African and European Americans: the Jackson Heart Study. Deo RC et al. 2009 PLoS genetics
19161620 An open access database of genome-wide association results. Johnson AD et al. 2009 BMC medical genetics
19185284 Common variation in the beta-carotene 15,15'-monooxygenase 1 gene affects circulating levels of carotenoids: a genome-wide association study. Ferrucci L et al. 2009 American journal of human genetics
19197348 Genome-wide association studies in an isolated founder population from the Pacific Island of Kosrae. Lowe JK et al. 2009 PLoS genetics
19241058 Association of GCKR rs780094, alone or in combination with GCK rs1799884, with type 2 diabetes and related traits in a Han Chinese population. Qi Q et al. 2009 Diabetologia
19336475 Integrated associations of genotypes with multiple blood biomarkers linked to coronary heart disease risk. Drenos F et al. 2009 Human molecular genetics
19435741 Common lipid-altering gene variants are associated with therapeutic intervention thresholds of lipid levels in older people. Murray A et al. 2009 European heart journal
19474294 Potential etiologic and functional implications of genome-wide association loci for human diseases and traits. Hindorff LA et al. 2009 Proceedings of the National Academy of Sciences of the United States of America
19503597 Meta-analysis of 28,141 individuals identifies common variants within five new loci that influence uric acid concentrations. Kolz M et al. 2009 PLoS genetics
19533084 Combined effects of single-nucleotide polymorphisms in GCK, GCKR, G6PC2 and MTNR1B on fasting plasma glucose and type 2 diabetes risk. Reiling E et al. 2009 Diabetologia
19651813 Genetic variant in HK1 is associated with a proanemic state and A1C but not other glycemic control-related traits. Bonnefond A et al. 2009 Diabetes
19656773 A polygenic basis for four classical Fredrickson hyperlipoproteinemia phenotypes that are characterized by hypertriglyceridemia. Hegele RA et al. 2009 Human molecular genetics
19679263 Using new tools to define the genetic underpinnings of risky traits associated with coronary artery disease: the SardiNIA study. Strait JB et al. 2009 Trends in cardiovascular medicine
19802338 Genetic loci associated with plasma concentration of low-density lipoprotein cholesterol, high-density lipoprotein cholesterol, triglycerides, apolipoprotein A1, and Apolipoprotein B among 6382 white women in genome-wide analysis with replication. Chasman DI et al. 2008 Circulation. Cardiovascular genetics
19822575 Molecular interactions between HNF4a, FOXA2 and GABP identified at regulatory DNA elements through ChIP-sequencing. Wallerman O et al. 2009 Nucleic acids research
19861489 Replication of the five novel loci for uric acid concentrations and potential mediating mechanisms. van der Harst P et al. 2010 Human molecular genetics
19890391 Common polymorphisms influencing serum uric acid levels contribute to susceptibility to gout, but not to coronary artery disease. Stark K et al. 2009 PloS one
19937311 Common variants at the GCK, GCKR, G6PC2-ABCB11 and MTNR1B loci are associated with fasting glucose in two Asian populations. Takeuchi F et al. 2010 Diabetologia
20017967 Genome-wide association analyses of North American Rheumatoid Arthritis Consortium and Framingham Heart Study data utilizing genome-wide linkage results. Yoo YJ et al. 2009 BMC proceedings
20031577 Novel loci, including those related to Crohn disease, psoriasis, and inflammation, identified in a genome-wide association study of fibrinogen in 17 686 women: the Women's Genome Health Study. Danik JS et al. 2009 Circulation. Cardiovascular genetics
20043853 Prioritizing genes for follow-up from genome wide association studies using information on gene expression in tissues relevant for type 2 diabetes mellitus. Parikh H et al. 2009 BMC medical genomics
20081857 Genetic variation in GIPR influences the glucose and insulin responses to an oral glucose challenge. Saxena R et al. 2010 Nature genetics
20081858 New genetic loci implicated in fasting glucose homeostasis and their impact on type 2 diabetes risk. Dupuis J et al. 2010 Nature genetics
20152958 A weighted false discovery rate control procedure reveals alleles at FOXA2 that influence fasting glucose levels. Xing C et al. 2010 American journal of human genetics
20161779 Investigation of type 2 diabetes risk alleles support CDKN2A/B, CDKAL1, and TCF7L2 as susceptibility genes in a Han Chinese cohort. Wen J et al. 2010 PloS one
20162742 Predictive value of 8 genetic loci for serum uric acid concentration. Gunjaca G et al. 2010 Croatian medical journal
20162743 Common variants in SLC17A3 gene affect intra-personal variation in serum uric acid levels in longitudinal time series. Polasek O et al. 2010 Croatian medical journal
20185807 Detailed physiologic characterization reveals diverse mechanisms for novel genetic Loci regulating glucose and insulin metabolism in humans. Ingelsson E et al. 2010 Diabetes
20228799 Genome-wide association identifies multiple ulcerative colitis susceptibility loci. McGovern DP et al. 2010 Nature genetics
20352598 Glucokinase-activating GCKR polymorphisms increase plasma levels of triglycerides and free fatty acids, but do not elevate cardiovascular risk in the Ludwigshafen Risk and Cardiovascular Health Study. Kozian DH et al. 2010 Hormone and metabolic research = Hormon- und Stoffwechselforschung = Hormones et metabolisme
20502693 Genetics and beyond--the transcriptome of human monocytes and disease susceptibility. Zeller T et al. 2010 PloS one
20574426 The GCKR rs780094 polymorphism is associated with susceptibility of type 2 diabetes, reduced fasting plasma glucose levels, increased triglycerides levels and lower HOMA-IR in Japanese population. Onuma H et al. 2010 Journal of human genetics
20583287 Analyze multivariate phenotypes in genetic association studies by combining univariate association tests. Yang Q et al. 2010 Genetic epidemiology
20625834 Genetic variation in the GCKR gene is associated with non-alcoholic fatty liver disease in Chinese people. Yang Z et al. 2011 Molecular biology reports
20628598 Common polymorphisms in MTNR1B, G6PC2 and GCK are associated with increased fasting plasma glucose and impaired beta-cell function in Chinese subjects. Tam CH et al. 2010 PloS one
20661421 Association of rs780094 in GCKR with metabolic traits and incident diabetes and cardiovascular disease: the ARIC Study. Bi M et al. 2010 PloS one
20668700 Effects of GCK, GCKR, G6PC2 and MTNR1B variants on glucose metabolism and insulin secretion. Hu C et al. 2010 PloS one
20691829 Joint effects of common genetic variants from multiple genes and pathways on the risk of premature coronary artery disease. Anderson JL et al. 2010 American heart journal
20693352 Interactions of dietary whole-grain intake with fasting glucose- and insulin-related genetic loci in individuals of European descent: a meta-analysis of 14 cohort studies. Nettleton JA et al. 2010 Diabetes care
20805105 Synthetic associations in the context of genome-wide association scan signals. Orozco G et al. 2010 Human molecular genetics
20805255 Racial/ethnic differences in association of fasting glucose-associated genomic loci with fasting glucose, HOMA-B, and impaired fasting glucose in the U.S. adult population. Yang Q et al. 2010 Diabetes care
20820957 The genetics of insulin resistance: Where's Waldo? Watanabe RM et al. 2010 Current diabetes reports
20831840 Three periods of one and a half decade of ischemic stroke susceptibility gene research: lessons we have learned. Maasz A et al. 2010 Genome medicine
20838585 Longitudinal genome-wide association of cardiovascular disease risk factors in the Bogalusa heart study. Smith EN et al. 2010 PLoS genetics
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21041806 Genetic determinants of plasma triglycerides. Johansen CT et al. 2011 Journal of lipid research
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21188353 Replication of genome-wide association studies (GWAS) loci for fasting plasma glucose in African-Americans. Ramos E et al. 2011 Diabetologia
21194676 Meta-analysis of Dense Genecentric Association Studies Reveals Common and Uncommon Variants Associated with Height. Lanktree MB et al. 2011 American journal of human genetics
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21288825 Association of pharmacogenetic markers with premature discontinuation of first-line anti-HIV therapy: an observational cohort study. Lubomirov R et al. 2011 The Journal of infectious diseases
21304977 An investigation of genome-wide studies reported susceptibility loci for ulcerative colitis shows limited replication in north Indians. Juyal G et al. 2011 PloS one
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22350825 Genetic predisposition to type 2 diabetes is associated with impaired insulin secretion but does not modify insulin resistance or secretion in response to an intervention to lower dietary saturated fat. Walker CG et al. 2012 Genes & nutrition
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22492993 C-reactive protein (CRP) promoter polymorphisms influence circulating CRP levels in a genome-wide association study of African Americans. Doumatey AP et al. 2012 Human molecular genetics
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23193118 Association of type 2 diabetes susceptibility variants with advanced prostate cancer risk in the Breast and Prostate Cancer Cohort Consortium. Machiela MJ et al. 2012 American journal of epidemiology
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23416328 Association between variants in or near PNPLA3, GCKR, and PPP1R3B with ultrasound-defined steatosis based on data from the third National Health and Nutrition Examination Survey. Hernaez R et al. 2013 Clinical gastroenterology and hepatology
23425704 Lack of interaction of beta-cell-function-associated variants with hypertension on change in fasting glucose and diabetes risk: the Framingham Offspring Study. de Miguel-Yanes JM et al. 2013 Journal of hypertension
23456907 Maternal genotype and gestational diabetes. Stuebe AM et al. 2014 American journal of perinatology
23462794 Identification of CpG-SNPs associated with type 2 diabetes and differential DNA methylation in human pancreatic islets. Dayeh TA et al. 2013 Diabetologia
23497168 Omega-3 fatty acids, polymorphisms and lipid related cardiovascular disease risk factors in the Inuit population. Rudkowska I et al. 2013 Nutrition & metabolism
23587283 Lack of associations of ten candidate coronary heart disease risk genetic variants and subclinical atherosclerosis in four US populations: the Population Architecture using Genomics and Epidemiology (PAGE) study. Zhang L et al. 2013 Atherosclerosis
23712608 Genetic variability related to serum uric acid concentration and risk of Parkinson's disease. González-Aramburu I et al. 2013 Movement disorders
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23800943 Association of glucokinase regulatory gene polymorphisms with risk and severity of non-alcoholic fatty liver disease: an interaction study with adiponutrin gene. Tan HL et al. 2014 Journal of gastroenterology
23989113 Association of the GCKR rs780094 polymorphism with metabolic traits including carotid intima-media thickness in Japanese community-dwelling men, but not in women. Murata-Mori F et al. 2014 Clinical chemistry and laboratory medicine
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24386469 Use of systems biology approaches to analysis of genome-wide association studies of myocardial infarction and blood cholesterol in the nurses' health study and health professionals' follow-up study. Reilly D et al. 2013 PloS one
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24637121 Serum uric acid and risk of dementia in Parkinson's disease. González-Aramburu I et al. 2014 Parkinsonism & related disorders
24637646 Cross-sectional and longitudinal replication analyses of genome-wide association loci of type 2 diabetes in Han Chinese. Zhao Q et al. 2014 PloS one
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24804806 The association between Mediterranean Diet Score and glucokinase regulatory protein gene variation on the markers of cardiometabolic risk: an analysis in the European Prospective Investigation into Cancer (EPIC)-Norfolk study. Sotos-Prieto M et al. 2014 The British journal of nutrition
24843659 Insights into the genetic basis of type 2 diabetes. Kato N et al. 2013 Journal of diabetes investigation
24845081 Gene-lifestyle interaction and type 2 diabetes: the EPIC interact case-cohort study. Langenberg C et al. 2014 PLoS medicine
24864266 Genetics of type 2 diabetes: insights into the pathogenesis and its clinical application. Sun X et al. 2014 BioMed research international
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24926958 Evaluation of common type 2 diabetes risk variants in a South Asian population of Sri Lankan descent. Hassanali N et al. 2014 PloS one
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24991929 Association of common genetic variants with lipid traits in the Indian population. Walia GK et al. 2014 PloS one
25018854 Pooled genetic analysis in ultrasound measured non-alcoholic fatty liver disease in Indian subjects: A pilot study. Kanth VV et al. 2014 World journal of hepatology
25024592 Proteomic and genomic studies of non-alcoholic fatty liver disease--clues in the pathogenesis. Lim JW et al. 2014 World journal of gastroenterology
25145545 Does genetic heterogeneity account for the divergent risk of type 2 diabetes in South Asian and white European populations? Sohani ZN et al. 2014 Diabetologia
25167786 Common variant in the glucokinase regulatory gene rs780094 and risk of nonalcoholic fatty liver disease: a meta-analysis. Zain SM et al. 2015 Journal of gastroenterology and hepatology
25283508 Serum uric acid levels are associated with polymorphisms in the SLC2A9, SF1, and GCKR genes in a Chinese population. Sun X et al. 2014 Acta pharmacologica Sinica
25369983 Association between maternal single nucleotide polymorphisms in genes regulating glucose metabolism and risk for neural tube defects in offspring. Fu Y et al. 2015 Birth defects research. Part A, Clinical and molecular teratology
25522307 GWAS-Identified Common Variants With Nonalcoholic Fatty Liver Disease in Chinese Children. Shang XR et al. 2015 Journal of pediatric gastroenterology and nutrition
25573592 Functional variants of lipid level modifier MLXIPL, GCKR, GALNT2, CILP2, ANGPTL3 and TRIB1 genes in healthy Roma and Hungarian populations. Sumegi K et al. 2015 Pathology oncology research
25573839 Improved prediction of knee osteoarthritis progression by genetic polymorphisms: the Arthrotest Study. Blanco FJ et al. 2015 Rheumatology (Oxford, England)
25617895 Common variants related to serum uric acid concentrations are associated with glucose metabolism and insulin secretion in a Chinese population. Sun X et al. 2015 PloS one
25626431 Dietary fatty acids modulate associations between genetic variants and circulating fatty acids in plasma and erythrocyte membranes: Meta-analysis of nine studies in the CHARGE consortium. Smith CE et al. 2015 Molecular nutrition & food research
25658847 Do variants associated with susceptibility to pancreatic cancer and type 2 diabetes reciprocally affect risk? Wu L et al. 2015 PloS one
25774817 Genetics of type 2 diabetes-pitfalls and possibilities. Prasad RB et al. 2015 Genes
25886283 Genome-wide association study of serum minerals levels in children of different ethnic background. Chang X et al. 2015 PloS one
25951190 Networks in Coronary Heart Disease Genetics As a Step towards Systems Epidemiology. Drenos F et al. 2015 PloS one
26115082 Effects of IGF2BP2, KCNQ1 and GCKR polymorphisms on clinical outcome in metastatic gastric cancer treated with EOF regimen. Liu X et al. 2015 Pharmacogenomics
26234566 Early gene-diet interaction between glucokinase regulatory protein (GCKR) polymorphism, vegetable and fish intakes in modulating triglyceride levels in healthy adolescents. Tam CH et al. 2015 Nutrition, metabolism, and cardiovascular diseases
26252223 Genetic Variants Associated with Lipid Profiles in Chinese Patients with Type 2 Diabetes. Kong X et al. 2015 PloS one
26290326 Polymorphisms in GCKR, SLC17A1 and SLC22A12 were associated with phenotype gout in Han Chinese males: a case-control study. Zhou ZW et al. 2015 BMC medical genetics
26291577 The dietary monounsaturated to saturated fatty acid ratio modulates the genetic effects of GCKR on serum lipid levels in children. Lee HJ et al. 2015 Clinica chimica acta; international journal of clinical chemistry
26363598 Insights into the Genetic Susceptibility to Type 2 Diabetes from Genome-Wide Association Studies of Obesity-Related Traits. Karaderi T et al. 2015 Current diabetes reports
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27015186 Interactions of a PPARGC1A Variant and a PNPLA3 Variant Affect Nonalcoholic Steatohepatitis in Severely Obese Taiwanese Patients. Tai CM et al. 2016 Medicine
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Genomic regions, transcripts, and products
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NCBI Graphical Sequence Viewer display of the genomic region, transcripts and protein products for the reported RefSNP (rs).
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