Rs401681
From SNPedia
| is a | snp |
| is | mentioned by |
| dbSNP | rs401681 |
| hapmap | rs401681 |
| hgdp | rs401681 |
| ensembl | rs401681 |
| gopubmed | rs401681 |
| scholar | rs401681 |
| rs401681 | |
| pharmgkb | rs401681 |
| hgvbaseg2p | rs401681 |
| medrefsnp | rs401681 |
| 23andMe | rs401681 |
| SNP Nexus |
| Chromosome | 5 |
| Orientation | plus |
| Position | 1375086 |
| Genotype | Effect |
|---|---|
| rs401681(C;C) | ~1.2x increased risk for several types of cancer |
| rs401681(C;T) | ~1.2x increased risk for several types of cancer |
| rs401681(T;T) | normal |
| Genotypes | Magnitude | Summary |
|---|---|---|
| Rs401681(C;C) | ~1.2x increased risk for several types of cancer | |
| Rs401681(C;T) | ~1.2x increased risk for several types of cancer | |
| Rs401681(T;T) | normal |
The following studies span several types of cancer, and over 30,000 cases and 45,000 controls.
deCODE press release reports rs401681 linked to basal cell carcinoma and many cancers 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] spittoon rs2736098 and rs401681 linked to many cancers
[PMID 18978787] lung cancer rs401681 P = 7.90 x 10(-9)
| ? | (C;C) (C;T) (T;T) |
|---|---|
|
| |
[PMID 19465454] The TERT-CLPTM1L lung cancer susceptibility variant associates with higher DNA adduct formation in the lung
[PMID 19578363] New common variants affecting susceptibility to basal cell carcinoma
| PharmGKB | PA162360099 |
| Name | |
| Annotation | In a GWAS this variant 5p15.33 (CLPTM1L) was associatd with lung cancer risk. |
| Gene | CLPTM1L |
| Featue | |
| Evidence | PubMed ID:18978787 |
| Drugs | |
| Diseases | Lung Neoplasms |
| Curation Level | Curated |
| GWAS snp | |
|---|---|
| PMID | [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 |
| Risk Allele | T |
| P-val | 7E-7 |
| Odds Ratio | 1.19 [1.11-1.27] |
