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rs7538876

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 2.1 1.28x increased Basal Cell Carcinoma risk.
(A;G) 1.8 Normal risk of Basal Cell Carcinoma.
(G;G) 2 0.78x decreased Basal Cell Carcinoma risk.
ReferenceGRCh38 38.1/141
Chromosome1
Position17395867
GenePADI6
is asnp
is mentioned by
dbSNPrs7538876
ebirs7538876
HLIrs7538876
Exacrs7538876
Varsomers7538876
Maprs7538876
PheGenIrs7538876
hapmaprs7538876
1000 genomesrs7538876
hgdprs7538876
ensemblrs7538876
gopubmedrs7538876
geneviewrs7538876
scholarrs7538876
googlers7538876
pharmgkbrs7538876
gwascentralrs7538876
openSNPrs7538876
23andMers7538876
23andMe allrs7538876
SNP Nexus

SNPshotrs7538876
SNPdbers7538876
MSV3drs7538876
GWAS Ctlgrs7538876
GMAF0.3168
Max Magnitude2.1
? (A;A) (A;G) (G;G) 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
rs7538876
aa_change
aa_change_short
impact pathogenic
qualified_impact Insufficiently evaluated pathogenic
overall_frequency 0.238095
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 A
P-val 7E-14
Odds Ratio 1.25 [1.18-1.32]