{{Rsnum
|rsid=402710
|Gene=CLPTM1L
|Chromosome=5
|position=1320607
|Orientation=plus
|GMAF=0.3618
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|geno1=(C;C)
|geno2=(C;T)
|geno3=(T;T)
|Gene_s=CLPTM1L
}}{{ population diversity
| geno1=(C;C)
| geno2=(C;T)
| geno3=(T;T)
| CEU | 44.4 | 44.4 | 11.1
| HCB | 55.6 | 35.6 | 8.9
| JPT | 40.9 | 52.3 | 6.8
| YRI | 15.0 | 54.3 | 30.7
| ASW | 22.6 | 64.2 | 13.2
| CHB | 55.6 | 35.6 | 8.9
| CHD | 0.0 | 0.0 | 0.0
| GIH | 0.0 | 0.0 | 0.0
| LWK | 0.0 | 0.0 | 0.0
| MEX | 0.0 | 0.0 | 0.0
| MKK | 40.9 | 45.5 | 13.6
| TSI | 0.0 | 0.0 | 0.0
| HapMapRevision=28
}}
{{PMID Auto GWAS
|PMID=18978790
|Trait=Lung cancer
|Title=Lung cancer susceptibility locus at 5p15.33
|RiskAllele=C
|Pval=0.000004
|OR=1.18
|ORtxt=[1.12-1.24]
|OA=1
}}

{{PMID Auto
|PMID=19465454
|Title=The TERT-CLPTM1L lung cancer susceptibility variant associates with higher DNA adduct formation in the lung
}}

{{omim
|desc=LUNG CANCER SUSCEPTIBILITY 3; LNCR3
|id=612571
|rsnum=402710
}}

{{PharmGKB
|RSID=rs402710
|Name_s=
|Gene_s=CLPTM1L
|Feature=
|Evidence=PubMed ID:18978790; Web Resource:http://www.genome.gov/gwastudies/
|Annotation=GWAS results: Lung cancer susceptibility locus at 5p15.33. (Initial Sample Size: 2,971 cases, 3,746 controls; Replication Sample Size: 2,899 cases, 5,573 controls); (Region: 5p15.33; Reported Gene(s): TERT, CLPTM1; Risk Allele: rs402710-C); (p-value= 0.000004).This variant is associated with Lung cancer.
|Drugs=
|Drug Classes=
|Diseases=Lung Neoplasms
|Curation Level=Non-Curated
|PharmGKB Accession ID=PA164740763
}}
{{PMID Auto
|PMID=20056643
|Title=A rigorous and comprehensive validation: common genetic variations and lung cancer
|OA=1
}}

{{PMID Auto
|PMID=21750227
|Title=Single-nucleotide polymorphisms (5p15.33, 15q25.1, 6p22.1, 6q27 and 7p15.3) and lung cancer survival in the European Prospective Investigation into Cancer and Nutrition (EPIC)
}}

{{PMID Auto
|PMID=22404340
|Title=Replication of results of genome-wide association studies on lung cancer susceptibility loci in a Korean population
}}

{{PMID Auto
|PMID=22653581
|Title=A common genetic variant of 5p15.33 is associated with risk for prostate cancer in the Chinese population
}}

{{PMID Auto
|PMID=21966413
|Title=Smoking related cancers and loci at chromosomes 15q25, 5p15, 6p22.1 and 6p21.33 in the Polish population
|OA=1
}}

{{PMID Auto
|PMID=19369581
|Title=Common genetic variants on 5p15.33 contribute to risk of lung adenocarcinoma in a Chinese population.
}}

{{PMID Auto
|PMID=19654303
|Title=Deciphering the impact of common genetic variation on lung cancer risk: a genome-wide association study.
|OA=1
}}

{{PMID Auto
|PMID=19836008
|Title=A genome-wide association study of lung cancer identifies a region of chromosome 5p15 associated with risk for adenocarcinoma.
|OA=1
}}

{{PMID Auto
|PMID=20101243
|Title=A genome-wide association study identifies pancreatic cancer susceptibility loci on chromosomes 13q22.1, 1q32.1 and 5p15.33.
|OA=1
}}

{{PMID Auto
|PMID=20548021
|Title=Replication of lung cancer susceptibility loci at chromosomes 15q25, 5p15, and 6p21: a pooled analysis from the International Lung Cancer Consortium.
|OA=1
}}

{{PMID Auto
|PMID=20628624
|Title=Evaluation of candidate stromal epithelial cross-talk genes identifies association between risk of serous ovarian cancer and TERT, a cancer susceptibility "hot-spot".
|OA=1
}}

{{PMID Auto
|PMID=20700438
|Title=The 5p15.33 locus is associated with risk of lung adenocarcinoma in never-smoking females in Asia.
|OA=1
}}

{{PMID Auto
|PMID=21081471
|Title=Genetic variations on chromosomes 5p15 and 15q25 and bladder cancer risk: findings from the Los Angeles-Shanghai bladder case-control study.
|OA=1
}}

{{PMID Auto
|PMID=21304900
|Title=Individual and cumulative effects of GWAS susceptibility loci in lung cancer: associations after sub-phenotyping for COPD.
|OA=1
}}

{{PMID Auto
|PMID=22228261
|Title=Common genetic variants in TERT contribute to risk of cervical cancer in a Chinese population.
}}

{{PMID Auto
|PMID=22370939
|Title=Multiple variants of TERT and CLPTM1L constitute risk factors for lung adenocarcinoma.
}}

{{PMID Auto
|PMID=22523397
|Title=Telomerase reverse transcriptase locus polymorphisms and cancer risk: a field synopsis and meta-analysis.
|OA=1
}}

{{GET Evidence
|impact=pathogenic
|qualified_impact=Insufficiently evaluated pathogenic
|inheritance=unknown
|quality_scores=Array
|dbsnp_id=rs402710
|overall_frequency_n=3398
|overall_frequency_d=9224
|overall_frequency=0.368387
|n_genomes=29
|n_genomes_annotated=0
|n_haplomes=34
|n_articles=0
|n_articles_annotated=0
|in_gwas=Y
|in_pharmgkb=Y
|autoscore=2
|webscore=N
}}

{{PMID Auto
|PMID=24194831
|Title=The SNP rs402710 in 5p15.33 Is Associated with Lung Cancer Risk: A Replication Study in Chinese Population and a Meta-Analysis
|OA=1
}}

{{PMID Auto
|PMID=23085811
|Title=Tobacco consumption and genetic susceptibility to nasopharyngeal carcinoma (NPC) in Thailand.
}}

{{PMID Auto
|PMID=24907075
|Title=Association between CLPTM1L polymorphisms (rs402710 and rs401681) and lung cancer susceptibility: evidence from 27 case-control studies
}}

{{PMID Auto
|PMID=24615522
|Title=Quantitative assessment of common genetic variants on chromosome 5p15 and lung cancer risk
}}

{{PMID Auto
|PMID=25155038
|Title=Correlation of CLPTM1L polymorphisms with lung cancer susceptibility and response to cisplatin-based chemotherapy in a Chinese Han population
}}
{{on chip | 23andMe v2}}
{{on chip | 23andMe v3}}
{{on chip | 23andMe v4}}
{{on chip | HumanOmni1Quad}}
{{on chip | Illumina Human 1M}}