{{Rsnum
|rsid=401681
|Gene=CLPTM1L
|Chromosome=5
|position=1321972
|Orientation=plus
|GMAF=0.4435
|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 | 32.7 | 47.8 | 19.5
| HCB | 48.9 | 40.1 | 10.9
| JPT | 38.1 | 52.2 | 9.7
| YRI | 14.3 | 47.6 | 38.1
| ASW | 22.8 | 42.1 | 35.1
| CHB | 48.9 | 40.1 | 10.9
| CHD | 51.4 | 41.3 | 7.3
| GIH | 64.4 | 31.7 | 4.0
| LWK | 19.1 | 53.6 | 27.3
| MEX | 32.8 | 58.6 | 8.6
| MKK | 30.1 | 49.4 | 20.5
| TSI | 30.4 | 54.9 | 14.7
| HapMapRevision=28
}}{{CPMC SNP
|link=https://cpmc.coriell.org/v/Report/PancreaticCancer
}}[[rs401681]] is a SNP in the CLPTM1-like [[CLPTM1]] gene.

The following studies span several types of cancer, and over 30,000 cases and 45,000 controls.

[[deCODE]] [http://sev.prnewswire.com/biotechnology/20090118/CLSU90118012009-1.html press release] reports [[rs401681]] linked to [[basal cell carcinoma]] and many [[cancer]]s for individuals with shorter telomeres, whereas those with long telomeres are at greater risk of [[melanoma]]. Neighboring [[rs2736098]] also increases risk of cancer by affecting telomerase reverse transcriptase. The risk of these different cancers conferred by these two SNPs appears to be independent.

{{PMID|19151717}} [http://blog.23andme.com/2009/01/20/snpwatch-one-variation-many-cancers/ 23andMe blog] [[rs2736098]] and [[rs401681]] linked to many [[cancer]]s, including susceptibility to [[pancreatic cancer]] {{PMID|20101243|OA=1
}}

However, a very large study (encompassing thousands of cases and controls) found no association between [[rs401681]] and either (1) mean telomere length, or, (2) breast cancer, colorectal cancer, or melanoma.{{PMID|20570912|OA=1
}}

{{PMID|18978787|OA=1
}} [[lung cancer]] [[rs401681]] P = 7.90 x 10(-9)

{{PMID Auto
|PMID=19465454
|Title=The TERT-CLPTM1L lung cancer susceptibility variant associates with higher DNA adduct formation in the lung
}}
{{PMID Auto
|PMID=19578363
|Title=New common variants affecting susceptibility to basal cell carcinoma
|OA=1
}}

{{omim
|id=605462
|desc=BASAL CELL CARCINOMA, MULTIPLE
|rsnum=401681
}}

{{omim
|desc=LUNG CANCER SUSCEPTIBILITY 3; LNCR3
|id=612571
|rsnum=401681
}}

{{omim
|desc=MELANOMA, CUTANEOUS MALIGNANT; CMM
|id=155600
|rsnum=401681
}}

{{PharmGKB
|RSID=rs401681
|Name_s=
|Gene_s=CLPTM1L
|Feature=
|Evidence=PubMed ID:18978787; Web Resource:http://www.genome.gov/gwastudies/
|Annotation=Common 5p15.33 and 6p21.33 variants influence lung cancer risk. (Initial Sample Size: 1,952 cases, 1,438 controls; Replication Sample Size: 7,579 cases, 8,236 controls); (Region: 5p15.33; Reported Gene: CLPTM1L; Risk Allele: rs401681-G) This variant is associated with Lung cancer.
|Drugs=
|Drug Classes=
|Diseases=Lung Neoplasms
|Curation Level=Non-Curated
|PharmGKB Accession ID=PA164740873
}}

{{PMID Auto GWAS
|PMID=20101243
|Trait=Pancreatic cancer
|Title=A genome-wide association study identifies pancreatic cancer susceptibility loci on chromosomes 13q22.1, 1q32.1 and 5p15.33
|RiskAllele=T
|Pval=7E-7
|OR=1.19
|ORtxt=[1.11-1.27]
|OA=1
}}

{{PharmGKB
|RSID=rs401681
|Name_s=
|Gene_s=CLPTM1L
|Feature=
|Evidence=PubMed ID:18978787
|Annotation=In a GWAS this variant 5p15.33 (CLPTM1L) was associatd with lung cancer risk.
|Drugs=
|Drug Classes=
|Diseases=Lung Neoplasms
|Curation Level=Curated
|PharmGKB Accession ID=PA162360099
}}

{{PharmGKB
|RSID=rs401681
|Name_s=
|Gene_s=CLPTM1L
|Feature=
|Evidence=PubMed ID:18978787; Web Resource:http://www.genome.gov/gwastudies/
|Annotation=GWAS results: Common 5p15.33 and 6p21.33 variants influence lung cancer risk. (Initial Sample Size: 1,952 cases, 1,438 controls; Replication Sample Size: 7,579 cases, 8,236 controls); (Region: 5p15.33; Reported Gene(s): CLPTM1L; Risk Allele: rs401681-G); (p-value= 0.000000008).This variant is associated with Lung cancer.
|Drugs=
|Drug Classes=
|Diseases=Lung Neoplasms
|Curation Level=Non-Curated
|PharmGKB Accession ID=PA164740766
}}
{{PMID Auto GWAS
|PMID=20972438
|Trait=None
|Title=A multi-stage genome-wide association study of bladder cancer identifies multiple susceptibility loci
|RiskAllele=C
|Pval=5E-7
|OR=1.1100
|ORtxt=[1.07-1.16]
|OA=1
}}

{{PMID Auto GWAS
|PMID=21160077
|Trait=None
|Title=Genetic Correction of PSA Values Using Sequence Variants Associated with PSA Levels
|RiskAllele=C
|Pval=1E-10
|OR=7.0000
|ORtxt=[NR] % increase
|OA=1
}}

{{omim
|id=260350
|rsnum=401681
}}

{{omim
|id=613059
|rsnum=401681
}}

{{PMID Auto GWAS
|PMID=21983787
|Trait=None
|Title=Genome-wide association study identifies three new melanoma susceptibility loci.
|RiskAllele=A
|Pval=3E-8
|OR=1.2000
|ORtxt=None
|OA=1
}}

{{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=18978790
|Title=Lung cancer susceptibility locus at 5p15.33.
|OA=1
}}

{{PMID Auto
|PMID=19423719
|Title=Update in lung cancer 2008.
|OA=1
}}

{{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=19774073
|Title=Genetic epidemiology of glioblastoma multiforme: confirmatory and new findings from analyses of human leukocyte antigen alleles and motifs.
|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=19916168
|Title=Genome-wide association studies--a summary for the clinical gastroenterologist.
|OA=1
}}

{{PMID Auto
|PMID=20445798
|Title=Chromosome 5p Region SNPs Are Associated with Risk of NSCLC among Women.
|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=20802237
|Title=Genetic variations in TERT-CLPTM1L genes and risk of squamous cell carcinoma of the head and neck.
|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=21116649
|Title=Genetic variants in telomere-maintaining genes and skin cancer risk.
|OA=1
}}

{{PMID Auto
|PMID=21332924
|Title=Absence of association of a single-nucleotide polymorphism in the TERT-CLPTM1L locus with age-related phenotypes in a large multicohort study: the HALCyon programme.
|OA=1
}}

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

{{GET Evidence
|impact=pathogenic
|qualified_impact=Insufficiently evaluated pathogenic
|inheritance=unknown
|quality_scores=Array
|dbsnp_id=rs401681
|overall_frequency_n=50
|overall_frequency_d=128
|overall_frequency=0.390625
|n_genomes=36
|n_genomes_annotated=0
|n_haplomes=45
|n_articles=1
|n_articles_annotated=0
|in_gwas=Y
|in_pharmgkb=Y
|autoscore=2
|webscore=N
}}

[[Prostate-Specific Antigen]]

{{PMID Auto
|PMID=23393597
|Title=Replication and Predictive Value of SNPs Associated with Melanoma and Pigmentation Traits in a Southern European Case-Control Study
|OA=1
}}

{{PMID Auto
|PMID=24039754
|Title=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
|OA=1
}}

{{PMID Auto
|PMID=24386361
|Title=Genetic Variant rs401681 at 5p15.33 Modifies Susceptibility to Lung Cancer but Not Esophageal Squamous Cell Carcinoma
|OA=1
}}

{{PMID Auto
|PMID=24577890
|Title=Association between CLPTM1L-TERT rs401681 polymorphism and pancreatic cancer risk among Chinese Han population
}}

{{PMID Auto
|PMID=22893025
|Title=Association between TERT-CLPTM1L rs401681[C] allele and NMSC cancer risk: a meta-analysis including 45,184 subjects.
}}

{{PMID Auto
|PMID=23433592
|Title=Genetic polymorphisms of TERT and CLPTM1L and risk of lung cancer--a case-control study in a Chinese population.
|OA=1
}}

{{PMID Auto
|PMID=23535824
|Title=Fine-mapping identifies multiple prostate cancer risk loci at 5p15, one of which associates with TERT expression.
|OA=1
}}

{{PMID Auto
|PMID=24761905
|Title=Genetic Variations in TERT-CLPTM1L Genes and Risk of Lung Cancer in a Chinese Population
}}

{{PMID Auto GWAS
  |PMID=24163127
  |Trait=Bladder cancer
  |Title=Genome-wide association study identifies multiple loci associated with bladder cancer risk.
  |RiskAllele=C
  |Pval=4E-11
  |OR=1.12
  |ORtxt=[1.08-1.16]
  }}

{{PMID Auto
|PMID=24861918
|Title=Genetic polymorphisms of TERT and CLPTM1L and risk of lung cancer: a case-control study in northeast Chinese male population
}}

{{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=25007268
|Title=TERT-CLPTM1L Rs401681 C&gt;T Polymorphism Was Associated with a Decreased Risk of Esophageal Cancer in a Chinese Population
}}

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

{{PMID Auto
|PMID=25159867
|Title=Common variants modify the age of onset for basal cell carcinomas in Gorlin syndrome
}}
{{on chip | 23andMe v1}}
{{on chip | 23andMe v2}}
{{on chip | 23andMe v3}}
{{on chip | 23andMe v4}}
{{on chip | Affy GenomeWide 6}}
{{on chip | Illumina Human 1M}}