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rs2464196

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 normal
(C;T) 1.5 ~1.5x increased lung cancer risk
(T;T) 2 ~2x increased lung cancer risk
ReferenceGRCh38 38.1/141
Chromosome12
Position120997624
GeneHNF1A
is asnp
is mentioned by
dbSNPrs2464196
ebirs2464196
HLIrs2464196
Exacrs2464196
Varsomers2464196
Maprs2464196
PheGenIrs2464196
hapmaprs2464196
1000 genomesrs2464196
hgdprs2464196
ensemblrs2464196
gopubmedrs2464196
geneviewrs2464196
scholarrs2464196
googlers2464196
pharmgkbrs2464196
gwascentralrs2464196
openSNPrs2464196
23andMers2464196
23andMe allrs2464196
SNP Nexus

SNPshotrs2464196
SNPdbers2464196
MSV3drs2464196
GWAS Ctlgrs2464196
GMAF0.3283
Max Magnitude2
rs2464196 is a SNP that was originally associated with C-reactive protein levels, and given other findings that suggest C-reactive protein levels may be predictive of cancer risk, was thought to be linked to cancer risk.

A large study pooling data from 3 Finnish studies totaling over 18,000 individuals concluded that while this SNP is not likely to be causative (relative to cancer), it and one other CRP SNP (rs1169300) are associated with increased risk for lung cancer. The odds ratio for minor alleles of either SNP was about 1.5x and 2x for heterozygotes and homozygotes, respectively. One other CRP SNP (rs1892534) was associated with increased overall cancer risk. CRP SNPs were not associated with colorectal, prostate or breast cancer risk.[PMID 20727736]

? (C;C) (C;T) (T;T) 28


Venter snp
Source plos
Gene TCF1
allele A
frequency 0.283
sift TOLERATED
HuRef 1103649555017
Disease Association Defects in TCF1 are a cause of susceptibility to insulin- dependent diabetes mellitus (IDDM) (MIM:222100).




[PMID 18439548OA-icon.png] Loci related to metabolic-syndrome pathways including LEPR,HNF1A, IL6R, and GCKR associate with plasma C-reactive protein: the Women's Genome Health Study.


[PMID 18940312OA-icon.png] Population-based genome-wide association studies reveal six loci influencing plasma levels of liver enzymes.


[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 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.


GET Evidence
HNF1A-S487N
aa_change Ser487Asn
aa_change_short S487N
impact not reviewed
qualified_impact Insufficiently evaluated not reviewed
overall_frequency 0.246421
summary



ClinVar
Risk rs2464196(T;T)
Alt rs2464196(T;T)
Reference rs2464196(C;C)
Significance Other
Disease not specified
Variation info
Gene HNF1A
CLNDBN not specified
Reversed 1
HGVS NC_000012.11:g.121435427G>A
CLNSRC ClinVar GeneDx University of Chicago
CLNACC RCV000117227.5,