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rs31489

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 1.1 Reduced lung cancer risk?
(A;C) 2 1.75-fold reduced risk of developing lung cancer
(C;C) 2 Increased risk for lung cancer and emphysema
ReferenceGRCh38 38.1/141
Chromosome5
Position1342599
GeneCLPTM1L
is asnp
is mentioned by
dbSNPrs31489
ebirs31489
HLIrs31489
Exacrs31489
Varsomers31489
Maprs31489
PheGenIrs31489
hapmaprs31489
1000 genomesrs31489
hgdprs31489
ensemblrs31489
gopubmedrs31489
geneviewrs31489
scholarrs31489
googlers31489
pharmgkbrs31489
gwascentralrs31489
openSNPrs31489
23andMers31489
23andMe allrs31489
SNP Nexus

SNPshotrs31489
SNPdbers31489
MSV3drs31489
GWAS Ctlgrs31489
GMAF0.3503
Max Magnitude2
? (A;A) (A;C) (C;C) 28
GWAS snp
PMID [PMID 19836008OA-icon.png]
Trait Lung adenocarcinoma
Title A Genome-wide Association Study of Lung Cancer Identifies a Region of Chromosome 5p15 Associated with Risk for Adenocarcinoma
Risk Allele C
P-val 2E-10
Odds Ratio 1.12 [1.09-1.16]


[PMID 20142248OA-icon.png] Cumulative effect of multiple Loci on genetic susceptibility to familial lung cancer


[PMID 21622582] The TERT-CLPTM1L locus for lung cancer predisposes to bronchial obstruction and emphysema


[PMID 22404340] Replication of results of genome-wide association studies on lung cancer susceptibility loci in a Korean population


[PMID 22675468OA-icon.png] Functional Characterization of CLPTM1L as a Lung Cancer Risk Candidate Gene in the 5p15.33 Locus


[PMID 18978790OA-icon.png] Lung cancer susceptibility locus at 5p15.33.


GET Evidence
rs31489
aa_change
aa_change_short
impact pathogenic
qualified_impact Insufficiently evaluated pathogenic
overall_frequency 0.335938
summary



[PMID 24039754OA-icon.png] The impact of polymorphic variations in the 5p15, 6p12, 6p21 and 15q25 Loci on the risk and prognosis of portuguese patients with non-small cell lung cancer


[PMID 24615522] Quantitative assessment of common genetic variants on chromosome 5p15 and lung cancer risk


[PMID 27517745] Nasopharyngeal carcinoma risk prediction via salivary detection of host and Epstein-Barr virus genetic variants.