Rs801114

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is asnp
is mentioned by
dbSNPrs801114
hapmaprs801114
hgdprs801114
ensemblrs801114
gopubmedrs801114
scholarrs801114
googlers801114
pharmgkbrs801114
hgvbaseg2prs801114
medrefsnprs801114
23andMers801114
SNP Nexus

Chromosome1
Orientationplus
Position227064457
GenotypeEffect
rs801114(G;G)1.28x increased basal cell carcinoma risk
rs801114(G;T)1.28x increased basal cell carcinoma risk
rs801114(T;T)normal


Genotypes Magnitude Summary
Rs801114(G;G) 1.28x increased basal cell carcinoma risk
Rs801114(G;T) 1.28x increased basal cell carcinoma risk
Rs801114(T;T) normal

2 SNPs located in different regions of chromosome 1 are likely to be associated with increased risk for basal cell carcinoma (BCC), the most common form of skin cancer. [PMID 18849993]

  • each A at rs7538876 yields a 1.28x increased risk of developing BCC (p = 4.4 x 10e-12)
  • each G at rs801114 also yields a 1.28x increased odds of developing BCC (p = 5.9 x 10e-12)
  • 2.68x increased risk of BCC for homozygous carriers of both SNPs

This study was based on an analysis of ~2,000 Icelandic and Eastern European skin cancer patients (as well as a large number of controls). The authors estimate that approximately 1.6% of all individuals of European ancestry are homozygous for both risk alleles, and thus that percentage of the population is at 2.68x higher risk for BCC compared to individuals who are rs7538876(G;G) and rs801114(T;T). [PMID 18849993]

See also:spittoon

? (G;G) (G;T) (T;T)
Related to BASAL CELL CARCINOMA, MULTIPLE according to omim 605462. See also


PharmGKBPA162356001
Name
AnnotationThis variant is associated with the risk of basal cell carcinoma.
Gene-
Featue
EvidencePubMed ID:18849993
Drugs
DiseasesCarcinoma, Basal Cell
Curation LevelCurated