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rs5015480

From SNPedia

Orientationplus
Stabilizedplus
Make rs5015480(C;C)
Make rs5015480(C;T)
Make rs5015480(T;T)
ReferenceGRCh38 38.1/142
Chromosome10
Position92705802
is asnp
is mentioned by
dbSNPrs5015480
ebirs5015480
HLIrs5015480
Exacrs5015480
Varsomers5015480
Maprs5015480
PheGenIrs5015480
hapmaprs5015480
1000 genomesrs5015480
hgdprs5015480
ensemblrs5015480
gopubmedrs5015480
geneviewrs5015480
scholarrs5015480
googlers5015480
pharmgkbrs5015480
gwascentralrs5015480
openSNPrs5015480
23andMers5015480
23andMe allrs5015480
SNP Nexus

SNPshotrs5015480
SNPdbers5015480
MSV3drs5015480
GWAS Ctlgrs5015480
GMAF0.4605
Max Magnitude
? (C;C) (C;T) (T;T) 28
[PMID 17928989] associated with type-2 diabetes, but then called into question by 10.1371/journal.pbio.1000294 along with rs9300039 rs4402960 rs7754840 rs17044137 rs11037909 rs1081161 rs1111875 rs7923837 rs12885713 rs1219648 rs2981582
GWAS
SNP rs5015480
PubMedID [PMID 17463249OA-icon.png]
Condition Type 2 diabetes
Gene HHEX
Risk Allele C
pValue 6.00E-010
OR 1.13
95% CI 1.08-1.17


GWAS snp
PMID [PMID 18372903OA-icon.png]
Trait Type 2 diabetes
Title Meta-analysis of genome-wide association data and large-scale replication identifies additional susceptibility loci for type 2 diabetes
Risk Allele C
P-val 7.0000000000000005E-8
Odds Ratio 1.17 [1.11-1.24]


[PMID 19622614] HHEX-IDE polymorphism is associated with low birth weight in offspring with a family history of type 1 diabetes



[PMID 20503258] Candidate gene association study conditioning on individual ancestry in patients with type 2 diabetes and metabolic syndrome from Mexico City

GWAS snp
PMID [PMID 20581827OA-icon.png]
Trait Type 2 diabetes
Title Twelve type 2 diabetes susceptibility loci identified through large-scale association analysis
Risk Allele C
P-val 1E-15
Odds Ratio 1.18 [1.13-1.23]
GWAS snp
PMID [PMID 20862305OA-icon.png]
Trait
Title Identification of new genetic risk variants for type 2 diabetes
Risk Allele C
P-val 0.000009
Odds Ratio 1.17 [1.11-1.24]


[PMID 22558147OA-icon.png] Lack of Association of Type 2 Diabetes Susceptibility Genotypes and Body Weight on the Development of Islet Autoimmunity and Type 1 Diabetes


[PMID 17786212OA-icon.png] Heterogeneity in meta-analyses of genome-wide association investigations.


[PMID 18426861OA-icon.png] Association analysis of type 2 diabetes Loci in type 1 diabetes.


[PMID 18443202OA-icon.png] Association analysis in african americans of European-derived type 2 diabetes single nucleotide polymorphisms from whole-genome association studies.


[PMID 18469204OA-icon.png] Implication of genetic variants near TCF7L2, SLC30A8, HHEX, CDKAL1, CDKN2A/B, IGF2BP2, and FTO in type 2 diabetes and obesity in 6,719 Asians.


[PMID 18633108OA-icon.png] 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.


[PMID 19002430] 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 19056611OA-icon.png] Adiposity-related heterogeneity in patterns of type 2 diabetes susceptibility observed in genome-wide association data.


[PMID 19207020OA-icon.png] Meta-analysis in genome-wide association studies.


[PMID 19323962OA-icon.png] Genome-wide association studies in type 2 diabetes.


[PMID 19526209OA-icon.png] Is the thrifty genotype hypothesis supported by evidence based on confirmed type 2 diabetes- and obesity-susceptibility variants?


[PMID 19602701OA-icon.png] Underlying genetic models of inheritance in established type 2 diabetes associations.


[PMID 19741467] Association of common type 2 diabetes risk gene variants and posttransplantation diabetes mellitus in renal allograft recipients in Korea.


[PMID 19931040OA-icon.png] Simultaneous genotype calling and haplotype phasing improves genotype accuracy and reduces false-positive associations for genome-wide association studies.


[PMID 20017978OA-icon.png] Influence of control selection in genome-wide association studies: the example of diabetes in the Framingham Heart Study.


[PMID 20018041OA-icon.png] The effect of multiple genetic variants in predicting the risk of type 2 diabetes.


[PMID 20126254OA-icon.png] Rare variants create synthetic genome-wide associations.


[PMID 20144327OA-icon.png] A genomics study of type 2 diabetes mellitus in U.S. Air Force personnel.


[PMID 20509872OA-icon.png] Implication of genetic variants near SLC30A8, HHEX, CDKAL1, CDKN2A/B, IGF2BP2, FTO, TCF2, KCNQ1, and WFS1 in type 2 diabetes in a Chinese population.


[PMID 20532014OA-icon.png] The epidemiology of diabetes in Korea: from the economics to genetics.


[PMID 20550665OA-icon.png] Association study of genetic variants in eight genes/loci with type 2 diabetes in a Han Chinese population.


[PMID 21368910OA-icon.png] Heterogeneity of genetic associations of CDKAL1 and HHEX with susceptibility of type 2 diabetes mellitus by gender.


[PMID 22377712] Association between type 2 diabetes genetic susceptibility loci and visceral and subcutaneous fat area as determined by computed tomography.

GWAS snp
PMID [PMID 22693455OA-icon.png]
Trait
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.
Risk Allele C
P-val 2E-9
Odds Ratio 1.1800 None


GET Evidence
rs5015480
aa_change
aa_change_short
impact pathogenic
qualified_impact Insufficiently evaluated pathogenic
overall_frequency 0.382812
summary



[PMID 24112421OA-icon.png] CDKAL1 and HHEX are associated with type-2 diabetes-related traits among Yup'ik people


[PMID 24371822OA-icon.png] IRS1, TCF7L2, ADRB1, PPARG, and HHEX Polymorphisms Associated with Atherogenic Risk in Mexican Population


[PMID 23298195] Association study of genetic variants of 17 diabetes-related genes/loci and cardiovascular risk and diabetic nephropathy in the Chinese She population.


[PMID 23462794OA-icon.png] Identification of CpG-SNPs associated with type 2 diabetes and differential DNA methylation in human pancreatic islets.