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rs801114

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 2.1 1.28x increased Basal Cell Carcinoma risk.
(G;T) 1.8 Normal (slightly higher) risk of Basal Cell Carcinoma.
(T;T) 2 0.78x decreased Basal Cell Carcinoma risk.
ReferenceGRCh38 38.1/141
Chromosome1
Position228862088
is asnp
is mentioned by
dbSNPrs801114
ebirs801114
HLIrs801114
Exacrs801114
Varsomers801114
Maprs801114
PheGenIrs801114
hapmaprs801114
1000 genomesrs801114
hgdprs801114
ensemblrs801114
gopubmedrs801114
geneviewrs801114
scholarrs801114
googlers801114
pharmgkbrs801114
gwascentralrs801114
openSNPrs801114
23andMers801114
23andMe allrs801114
SNP Nexus

SNPshotrs801114
SNPdbers801114
MSV3drs801114
GWAS Ctlgrs801114
GMAF0.4867
Max Magnitude2.1
? (G;G) (G;T) (T;T) 28

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:23andMe blog

OMIM605462
DescBASAL CELL CARCINOMA, MULTIPLE
Variant
Relatedalso




OMIM613058
Desc
Variant
Relatedalso


GET Evidence
rs801114
aa_change
aa_change_short
impact pathogenic
qualified_impact Insufficiently evaluated pathogenic
overall_frequency 0.515625
summary



GWAS snp
PMID [PMID 24403052OA-icon.png]
Trait Basal cell carcinoma
Title Germline sequence variants in TGM3 and RGS22 confer risk of basal cell carcinoma.
Risk Allele G
P-val 2E-13
Odds Ratio 1.25 [1.17-1.32]