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rs10946398

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs10946398(A;C)
Make rs10946398(C;C)
ReferenceGRCh38 38.1/141
Chromosome6
Position20660803
GeneCDKAL1
is asnp
is mentioned by
dbSNPrs10946398
ebirs10946398
HLIrs10946398
Exacrs10946398
Varsomers10946398
Maprs10946398
PheGenIrs10946398
hapmaprs10946398
1000 genomesrs10946398
hgdprs10946398
ensemblrs10946398
gopubmedrs10946398
geneviewrs10946398
scholarrs10946398
googlers10946398
pharmgkbrs10946398
gwascentralrs10946398
openSNPrs10946398
23andMers10946398
23andMe allrs10946398
SNP Nexus

SNPshotrs10946398
SNPdbers10946398
MSV3drs10946398
GWAS Ctlgrs10946398
GMAF0.4082
Max Magnitude0
? (A;A) (A;C) (C;C) 28
Rs10946398
PubMed [PMID 17463249OA-icon.png]
Affy Probeset SNP_A-4253796
Affy Orientation reverse
On GW 5.0 1
Alleles A/B G/T
Ancestral C
Population EU (UK)
Allele C
Case Freq.
Control Freq.
Odds Ratio Het
Odds Ratio Hom
Odds Ratio All 1.14
Disease Type II Diabetes (T2D)


Neighborrs7754840
Distance216

rs10946398 increases susceptibility to Type II Diabetes 1.14 times for carriers of the C allele [PMID 17463249OA-icon.png]

GWAS
SNP rs10946398
PubMedID [PMID 17463249OA-icon.png]
Condition Type 2 diabetes
Gene CDKAL1
Risk Allele C
pValue 4.00E-011
OR 1.12
95% CI 1.08-1.16


GWAS snp
PMID [PMID 19056611OA-icon.png]
Trait Type 2 diabetes
Title Adiposity-related heterogeneity in patterns of type 2 diabetes susceptibility observed in genome wide association data
Risk Allele
P-val 7E-7
Odds Ratio 1.18 [1.11-1.26]
OMIM611259
DescCDK5 REGULATORY SUBUNIT-ASSOCIATED PROTEIN 1-LIKE 1; CDKAL1
Variant
Relatedalso




OMIM611259
Desc
Variant0001
Relatedalso


[PMID 21673421] Genetic factors in risk assessment for the development of type 2 diabetes mellitus in a small case series


[PMID 21611789] The carriage of risk variants of CDKAL1 impairs beta-cell function in both diabetic and non-diabetic patients and reduces response to non-sulfonylurea and sulfonylurea agonists of the pancreatic KATP channel


[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 18461161OA-icon.png] Post genome-wide association studies of novel genes associated with type 2 diabetes show gene-gene interaction and high predictive value.


[PMID 18533027OA-icon.png] Worldwide population differentiation at disease-associated SNPs.


[PMID 18591388OA-icon.png] Assessing the combined impact of 18 common genetic variants of modest effect sizes on type 2 diabetes risk.


[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 19008344OA-icon.png] Association analysis of variation in/near FTO, CDKAL1, SLC30A8, HHEX, EXT2, IGF2BP2, LOC387761, and CDKN2B with type 2 diabetes and related quantitative traits in Pima Indians.


[PMID 19096518OA-icon.png] 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.


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


[PMID 19228808OA-icon.png] Type 2 diabetes risk alleles are associated with reduced size at birth.


[PMID 19341491OA-icon.png] Genome-based prediction of common diseases: methodological considerations for future research.


[PMID 19474294OA-icon.png] Potential etiologic and functional implications of genome-wide association loci for human diseases and traits.


[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 19862325OA-icon.png] PPARG, KCNJ11, CDKAL1, CDKN2A-CDKN2B, IDE-KIF11-HHEX, IGF2BP2 and SLC30A8 are associated with type 2 diabetes in a Chinese population.


[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 20018066OA-icon.png] Epistatic interactions of CDKN2B-TCF7L2 for risk of type 2 diabetes and of CDKN2B-JAZF1 for triglyceride/high-density lipoprotein ratio longitudinal change: evidence from the Framingham Heart Study.


[PMID 20080751OA-icon.png] Long-range gene regulation links genomic type 2 diabetes and obesity risk regions to HHEX, SOX4, and IRX3.


[PMID 20161779OA-icon.png] Investigation of type 2 diabetes risk alleles support CDKN2A/B, CDKAL1, and TCF7L2 as susceptibility genes in a Han Chinese cohort.


[PMID 20424228OA-icon.png] Impact of common variants of PPARG, KCNJ11, TCF7L2, SLC30A8, HHEX, CDKN2A, IGF2BP2, and CDKAL1 on the risk of type 2 diabetes in 5,164 Indians.


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


[PMID 21278902OA-icon.png] Genetic risk profiling for prediction of type 2 diabetes.


GET Evidence
rs10946398
aa_change
aa_change_short
impact pathogenic
qualified_impact Insufficiently evaluated pathogenic
overall_frequency 0.46875
summary



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


ClinVar
Risk rs10946398(C;C)
Alt rs10946398(C;C)
Reference rs10946398(A;A)
Significance Unknown
Disease Diabetes mellitus type 2
Variation info
Gene CDKAL1
CLNDBN Diabetes mellitus type 2
Reversed 0
HGVS NC_000006.11:g.20661034A>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000001037.6,