Rs12953717

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is asnp
is mentioned by
dbSNPrs12953717
hapmaprs12953717
hgdprs12953717
ensemblrs12953717
gopubmedrs12953717
scholarrs12953717
googlers12953717
pharmgkbrs12953717
hgvbaseg2prs12953717
medrefsnprs12953717
23andMers12953717
SNP Nexus

GeneSMAD7
Chromosome18
Orientationplus
Position44707926
GenotypeEffect
rs12953717(C;C)1.37x increased risk for colorectal cancer
rs12953717(C;T)1.11x increased risk for colorectal cancer
rs12953717(T;T)1x normal risk for colorectal cancer


Genotypes Magnitude Summary
Rs12953717(C;C) 1.37x increased risk for colorectal cancer
Rs12953717(C;T) 1.11x increased risk for colorectal cancer
Rs12953717(T;T) 1x normal risk for colorectal cancer
rs12953717 is one of 3 SNPs in the SMAD7 gene associated with risk for colorectal cancer, based on a large study (7,400+ cases) conducted in the UK. The odds ratios show an increased risk for the minor rs12953717(T) allele; the OR for (T;T) homozygotes is 1.37 (CI: 1.25-1.5), and for (C;T) heterozygotes 1.11 (CI: 1.03-1.2), overall p=9x10-12.[PMID 17934461]
Neighborrs4939827
Distance466
? (C;C) (C;T) (T;T)


[PMID 19562778] Wnt antagonist gene polymorphisms and renal cancer

[PMID 19843678] Enrichment of Low Penetrance Susceptibility Loci in a Dutch Familial Colorectal Cancer Cohort


[PMID 20124488] Increased Risk of Colon Cancer Associated with a Genetic Polymorphism of SMAD7

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