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rs1169288

From SNPedia

Orientationminus
Stabilizedplus
Make rs1169288(G;G)
Make rs1169288(G;T)
Make rs1169288(T;T)
ReferenceGRCh38 38.1/142
Chromosome12
Position120978847
GeneHNF1A
is asnp
is mentioned by
dbSNPrs1169288
ebirs1169288
HLIrs1169288
Exacrs1169288
Varsomers1169288
Maprs1169288
PheGenIrs1169288
hapmaprs1169288
1000 genomesrs1169288
hgdprs1169288
ensemblrs1169288
gopubmedrs1169288
geneviewrs1169288
scholarrs1169288
googlers1169288
pharmgkbrs1169288
gwascentralrs1169288
openSNPrs1169288
23andMers1169288
23andMe allrs1169288
SNP Nexus

SNPshotrs1169288
SNPdbers1169288
MSV3drs1169288
GWAS Ctlgrs1169288
GMAF0.2998
Max Magnitude
? (G;G) (G;T) (T;T) 28
rs1169288 (Ile27Leu) is a SNP in located within the HNF1A (Hepatocyte nuclear factor 1 homeobox A) gene. The C allele encodes for the Leu variant.

[PMID 12788852] among 356 unrelated Japanese men, lower HDL cholesterol was observed in those with the Ile/Ile genotype (and higher in the Leu/Leu genotype)

[PMID 18439552OA-icon.png] minor alleles of rs1169288, rs1169286, rs2464196, rs1169310 constitutes a common haplotype (freq. 30%) associated with lower CRP levels

OMIM142410
DescINSULIN RESISTANCE, SUSCEPTIBILITY TO
Variant0011
Relatedalso


GWAS snp
PMID [PMID 22010049OA-icon.png]
Trait
Title Loci affecting gamma-glutamyl transferase in adults and adolescents show age × SNP interaction and cardiometabolic disease associations.
Risk Allele G
P-val 2E-18
Odds Ratio 0.1320 None
GWAS snp
PMID [PMID 20686565OA-icon.png]
Trait
Title Biological, clinical and population relevance of 95 loci for blood lipids.
Risk Allele C
P-val 1E-15
Odds Ratio 1.4200 None


ClinVar
Risk rs1169288(G;G)
Alt rs1169288(G;G)
Reference rs1169288(T;T)
Significance Other
Disease Insulin resistance SERUM HDL CHOLESTEROL LEVEL not specified
Variation info
Gene HNF1A
CLNDBN Insulin resistance, susceptibility to SERUM HDL CHOLESTEROL LEVEL, MODIFIER OF not specified
Reversed 1
HGVS NC_000012.11:g.121416650A>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000016074.3, RCV000016075.27, RCV000117233.5,



[PMID 18332101] Common variants in maturity-onset diabetes of the young genes and future risk of type 2 diabetes.


[PMID 18498634OA-icon.png] The genetic susceptibility to type 2 diabetes may be modulated by obesity status: implications for association studies.


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


[PMID 19490620OA-icon.png] HNF1A gene polymorphisms and cardiovascular risk factors in individuals with late-onset autosomal dominant diabetes: a cross-sectional study.


[PMID 20031592OA-icon.png] Common coding variants of the HNF1A gene are associated with multiple cardiovascular risk phenotypes in community-based samples of younger and older European-American adults: the Coronary Artery Risk Development in Young Adults Study and The Cardiovascular Health Study.


[PMID 20416077OA-icon.png] Identification of type 2 diabetes-associated combination of SNPs using support vector machine.


[PMID 21094359] Effect of central obesity, low high-density lipoprotein cholesterol and C-reactive protein polymorphisms on C-reactive protein levels during treatment with Rosuvastatin (10 mg Daily).


[PMID 21195701] Effect of obesity on the association between common variations in the HNF1A gene region and C-reactive protein level in Taiwanese.


[PMID 21647738OA-icon.png] Genome-wide association with C-reactive protein levels in CLHNS: evidence for the CRP and HNF1A loci and their interaction with exposure to a pathogenic environment.


[PMID 22569176] MALDI-TOF mass spectrometry screening of cholelithiasis risk markers in the gene of HNF1alpha.


GET Evidence
HNF1A-I27L
aa_change Ile27Leu
aa_change_short I27L
impact pharmacogenetic
qualified_impact Insufficiently evaluated pharmacogenetic
overall_frequency 0.259859
summary



GWAS snp
PMID [PMID 24097068OA-icon.png]
Trait Cholesterol, total
Title Discovery and refinement of loci associated with lipid levels.
Risk Allele C
P-val 4E-17
Odds Ratio .03 [NR] unit increase


[PMID 26209006OA-icon.png] Associations of lipid levels susceptibility loci with coronary artery disease in Chinese population