{{Rsnum
|rsid=5015480
|Chromosome=10
|position=94465559
|Orientation=plus
|GMAF=0.4605
|Assembly=GRCh37
|GenomeBuild=37.1
|dbSNPBuild=131
|geno1=(C;C)
|geno2=(C;T)
|geno3=(T;T)
}}
{{ population diversity
| geno1=(C;C)
| geno2=(C;T)
| geno3=(T;T)
| CEU | 33.0 | 50.0 | 17.0
| HCB | 5.1 | 32.1 | 62.8
| JPT | 2.7 | 31.0 | 66.4
| YRI | 43.5 | 40.8 | 15.6
| ASW | 41.1 | 37.5 | 21.4
| CHB | 5.1 | 32.1 | 62.8
| CHD | 5.5 | 31.2 | 63.3
| GIH | 18.8 | 49.5 | 31.7
| LWK | 40.0 | 47.3 | 12.7
| MEX | 21.1 | 59.6 | 19.3
| MKK | 54.5 | 38.5 | 7.1
| TSI | 39.2 | 41.2 | 19.6
| HapMapRevision=28
}}{{PMID|17928989}} associated with [[type-2 diabetes]], but then called into question by {{doi|10.1371/journal.pbio.1000294}} along with [[rs9300039]] [[rs4402960]] [[rs7754840]] [[rs17044137]] [[rs11037909]] [[rs1081161]] [[rs1111875]] [[rs7923837]] [[rs12885713]] [[rs1219648]] [[rs2981582]]

{{GWAS Summary
|SNP=rs5015480
|PubMedID=17463249
|Condition=Type 2 diabetes
|Gene=HHEX
|Risk Allele=C
|pValue=6.00E-010
|OR=1.13
|95CI=1.08-1.17
|OA=1
}}

{{PMID Auto GWAS
|PMID=18372903
|Trait=Type 2 diabetes
|Title=Meta-analysis of genome-wide association data and large-scale replication identifies additional susceptibility loci for type 2 diabetes
|RiskAllele=C
|Pval=7.0000000000000005E-8
|OR=1.17
|ORtxt=[1.11-1.24]
|OA=1
}}

{{PMID Auto
|PMID=19622614
|Title=HHEX-IDE polymorphism is associated with low birth weight in offspring with a family history of type 1 diabetes
}}

{{PharmGKB
|RSID=rs5015480
|Name_s=
|Gene_s=-
|Feature=
|Evidence=PubMed ID:17463249; Web Resource:http://www.genome.gov/gwastudies/
|Annotation=GWAS Results: Replication of genome-wide association signals in UK samples reveals risk loci for type 2 diabetes (Initial Sample Size: 1,924 cases, 2,938 controls; Replication Sample Size: 3,757 cases, 5,346 controls; Risk Allele: rs5015480-C).
|Drugs=
|Drug Classes=
|Diseases=Diabetes Mellitus; Diabetes Mellitus, Type 2
|Curation Level=Non-Curated
|PharmGKB Accession ID=PA162356617
}}

{{PMID Auto
|PMID=20503258
|Title=Candidate gene association study conditioning on individual ancestry in patients with type 2 diabetes and metabolic syndrome from Mexico City
}}
{{PMID Auto GWAS
|PMID=20581827
|Trait=Type 2 diabetes
|Title=Twelve type 2 diabetes susceptibility loci identified through large-scale association analysis
|RiskAllele=C
|Pval=1E-15
|OR=1.18
|ORtxt=[1.13-1.23]
|OA=1
}}
{{PMID Auto GWAS
|PMID=20862305
|Trait=None
|Title=Identification of new genetic risk variants for type 2 diabetes
|RiskAllele=C
|Pval=0.000009
|OR=1.17
|ORtxt=[1.11-1.24]
|OA=1
}}

{{PMID Auto
|PMID=22558147
|Title=Lack of Association of Type 2 Diabetes Susceptibility Genotypes and Body Weight on the Development of Islet Autoimmunity and Type 1 Diabetes
|OA=1
}}

{{PMID Auto
|PMID=17786212
|Title=Heterogeneity in meta-analyses of genome-wide association investigations.
|OA=1
}}

{{PMID Auto
|PMID=18426861
|Title=Association analysis of type 2 diabetes Loci in type 1 diabetes.
|OA=1
}}

{{PMID Auto
|PMID=18443202
|Title=Association analysis in african americans of European-derived type 2 diabetes single nucleotide polymorphisms from whole-genome association studies.
|OA=1
}}

{{PMID Auto
|PMID=18469204
|Title=Implication of genetic variants near TCF7L2, SLC30A8, HHEX, CDKAL1, CDKN2A/B, IGF2BP2, and FTO in type 2 diabetes and obesity in 6,719 Asians.
|OA=1
}}

{{PMID Auto
|PMID=18633108
|Title=Common variants in CDKAL1, CDKN2A/B, IGF2BP2, SLC30A8, and HHEX/IDE genes are associated with type 2 diabetes and impaired fasting glucose in a Chinese Han population.
|OA=1
}}

{{PMID Auto
|PMID=19002430
|Title=Type 2 diabetes-associated genetic variants discovered in the recent genome-wide association studies are related to gestational diabetes mellitus in the Korean population.
}}

{{PMID Auto
|PMID=19056611
|Title=Adiposity-related heterogeneity in patterns of type 2 diabetes susceptibility observed in genome-wide association data.
|OA=1
}}

{{PMID Auto
|PMID=19207020
|Title=Meta-analysis in genome-wide association studies.
|OA=1
}}

{{PMID Auto
|PMID=19323962
|Title=Genome-wide association studies in type 2 diabetes.
|OA=1
}}

{{PMID Auto
|PMID=19526209
|Title=Is the thrifty genotype hypothesis supported by evidence based on confirmed type 2 diabetes- and obesity-susceptibility variants?
|OA=1
}}

{{PMID Auto
|PMID=19602701
|Title=Underlying genetic models of inheritance in established type 2 diabetes associations.
|OA=1
}}

{{PMID Auto
|PMID=19741467
|Title=Association of common type 2 diabetes risk gene variants and posttransplantation diabetes mellitus in renal allograft recipients in Korea.
}}

{{PMID Auto
|PMID=19931040
|Title=Simultaneous genotype calling and haplotype phasing improves genotype accuracy and reduces false-positive associations for genome-wide association studies.
|OA=1
}}

{{PMID Auto
|PMID=20017978
|Title=Influence of control selection in genome-wide association studies: the example of diabetes in the Framingham Heart Study.
|OA=1
}}

{{PMID Auto
|PMID=20018041
|Title=The effect of multiple genetic variants in predicting the risk of type 2 diabetes.
|OA=1
}}

{{PMID Auto
|PMID=20126254
|Title=Rare variants create synthetic genome-wide associations.
|OA=1
}}

{{PMID Auto
|PMID=20144327
|Title=A genomics study of type 2 diabetes mellitus in U.S. Air Force personnel.
|OA=1
}}

{{PMID Auto
|PMID=20509872
|Title=Implication of genetic variants near SLC30A8, HHEX, CDKAL1, CDKN2A/B, IGF2BP2, FTO, TCF2, KCNQ1, and WFS1 in type 2 diabetes in a Chinese population.
|OA=1
}}

{{PMID Auto
|PMID=20532014
|Title=The epidemiology of diabetes in Korea: from the economics to genetics.
|OA=1
}}

{{PMID Auto
|PMID=20550665
|Title=Association study of genetic variants in eight genes/loci with type 2 diabetes in a Han Chinese population.
|OA=1
}}

{{PMID Auto
|PMID=21368910
|Title=Heterogeneity of genetic associations of CDKAL1 and HHEX with susceptibility of type 2 diabetes mellitus by gender.
|OA=1
}}

{{PMID Auto
|PMID=22377712
|Title=Association between type 2 diabetes genetic susceptibility loci and visceral and subcutaneous fat area as determined by computed tomography.
}}

{{PMID Auto GWAS
|PMID=22693455
|Trait=None
|Title=Stratifying type 2 diabetes cases by BMI identifies genetic risk variants in LAMA1 and enrichment for risk variants in lean compared to obese cases.
|RiskAllele=C
|Pval=2E-9
|OR=1.1800
|ORtxt=None
|OA=1
}}

{{GET Evidence
|impact=pathogenic
|qualified_impact=Insufficiently evaluated pathogenic
|inheritance=unknown
|quality_scores=Array
|dbsnp_id=rs5015480
|overall_frequency_n=49
|overall_frequency_d=128
|overall_frequency=0.382812
|n_genomes=34
|n_genomes_annotated=0
|n_haplomes=45
|n_articles=0
|n_articles_annotated=0
|in_gwas=Y
|in_pharmgkb=Y
|autoscore=2
|webscore=N
}}

{{PMID Auto
|PMID=24112421
|Title=CDKAL1 and HHEX are associated with type-2 diabetes-related traits among Yup'ik people
}}

{{PMID Auto
|PMID=24371822
|Title=IRS1, TCF7L2, ADRB1, PPARG, and HHEX Polymorphisms Associated with Atherogenic Risk in Mexican Population
|OA=1
}}

{{PMID Auto
|PMID=23298195
|Title=Association study of genetic variants of 17 diabetes-related genes/loci and cardiovascular risk and diabetic nephropathy in the Chinese She population.
}}

{{PMID Auto
|PMID=23462794
|Title=Identification of CpG-SNPs associated with type 2 diabetes and differential DNA methylation in human pancreatic islets.
|OA=1
}}

{{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}}