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rs4712523

From SNPedia

Orientationplus
Stabilizedplus
Make rs4712523(A;A)
Make rs4712523(A;G)
Make rs4712523(G;G)
ReferenceGRCh38 38.1/141
Chromosome6
Position20657333
GeneCDKAL1
is asnp
is mentioned by
dbSNPrs4712523
ebirs4712523
HLIrs4712523
Exacrs4712523
Varsomers4712523
Maprs4712523
PheGenIrs4712523
hapmaprs4712523
1000 genomesrs4712523
hgdprs4712523
ensemblrs4712523
gopubmedrs4712523
geneviewrs4712523
scholarrs4712523
googlers4712523
pharmgkbrs4712523
gwascentralrs4712523
openSNPrs4712523
23andMers4712523
23andMe allrs4712523
SNP Nexus

SNPshotrs4712523
SNPdbers4712523
MSV3drs4712523
GWAS Ctlgrs4712523
GMAF0.4164
Max Magnitude
? (A;A) (A;G) (G;G) 28
[PMID 17463248OA-icon.png] associated with type-2 diabetes
GWAS snp
PMID [PMID 19401414OA-icon.png]
Trait Type 2 diabetes
Title Confirmation of multiple risk loci and genetic impacts by a genome-wide association study of type 2 diabetes in the Japanese population
Risk Allele G
P-val 7E-20
Odds Ratio 1.27 [1.21-1.33]
GWAS snp
PMID [PMID 19734900]
Trait Type 2 diabetes and other traits
Title Genetic variant near IRS1 is associated with type 2 diabetes, insulin resistance and hyperinsulinemia
Risk Allele G
P-val 2E-12
Odds Ratio 1.20 [1.14-1.26]


[PMID 22437209] Genetic variants on chromosome 6p21.1 and 6p22.3 are associated with type 2 diabetes risk: a case-control study in Han Chinese

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

[PMID 18852197OA-icon.png] Metabolic and cardiovascular traits: an abundance of recently identified common genetic variants.

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


GET Evidence
rs4712523
aa_change
aa_change_short
impact pathogenic
qualified_impact Insufficiently evaluated pathogenic
overall_frequency 0.484375
summary



[PMID 23334806OA-icon.png] Systematic identification of interaction effects between genome- and environment-wide associations in type 2 diabetes mellitus.


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


[PMID 26563541] CDKAL1 gene variants affect the anti-TNF response among Psoriasis patients