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rs3738579

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 1.1 0.6x decreased risk for cervical cancer, but 1.4x increased risk for HNSCC and 1.8x increased risk for breast cancer (reported in 2008)
(C;T) 1.1 0.5x decreased risk for cervical cancer, HNSCC, and breast cancer (reported in 2008)
(T;T) 1.1 1.5x - 2x increased risk for cervical cancer, HNSCC, and breast cancer (reported in 2008)
ReferenceGRCh38 38.1/141
Chromosome1
Position182586901
GeneRNASEL
is asnp
is mentioned by
dbSNPrs3738579
dbSNP (classic)rs3738579
ClinGenrs3738579
ebirs3738579
HLIrs3738579
Exacrs3738579
Gnomadrs3738579
Varsomers3738579
LitVarrs3738579
Maprs3738579
PheGenIrs3738579
Biobankrs3738579
1000 genomesrs3738579
hgdprs3738579
ensemblrs3738579
geneviewrs3738579
scholarrs3738579
googlers3738579
pharmgkbrs3738579
gwascentralrs3738579
openSNPrs3738579
23andMers3738579
SNPshotrs3738579
SNPdbers3738579
MSV3drs3738579
GWAS Ctlgrs3738579
GMAF0.2392
Max Magnitude1.1
? (C;C) (C;T) (T;T) 28


rs3738579 represents a SNP in the 5' UTR region upstream of the RNASEL gene.

A study of patients diagnosed with carcinoma of the uterine cervix, head and neck squamous cell carcinomas (HNSCC), and breast cancer found 1.5x-2x increased risk for all three cancer types for the rs3738579(T;T) genotype, while finding decreased risk (0.5x) for rs3738579(C;T) heterozygotes. rs3738579(C;C) homozygotes had 0.6x less risk for cervical cancer but increased risk for HNSCC (1.4x) and breast cancer (1.8x).[PMID 18575592OA-icon.png]

Although statistics were not reported per genotype, a combination of data from all three cancer forms over all genotypes provided strong statistical evidence for rs3738579 as a cancer marker, with a p-value of 4.43x10(-5).[PMID 18575592OA-icon.png]

Note that the research cited above was published over a decade ago, and there has been no follow-up or replication to our knowledge. It would be best to consider the research preliminary and perhaps of little to no clinical significance (until it is confirmed or replicated in a larger sample).