SNPs are specific locations in the DNA where genetic variations can occur. Every person has a unique composition of variations.
SNP rs401681 is located on chromosome 5. The most common variation at this position is the C. People with other variations might have letter T instead.
Since humans have each twice (one from each parent), these letter-variations occur on both chromosomes. People can have the same or different letters on both chromosomes. Every person's individual variation assembly is referred to as genotype. For SNP rs401681 there are 3 currently known genotypes: C/T , C/C or T/T
This interactive browser visualizes what no human can see with the naked eye - our DNA. From a down to a specific position on a . The position you are looking at here is the exact location of SNP rs401681. Explore more SNPs and their effects on the body by browsing left and right along the DNA strand.
Your genetic code influences you in many ways. This may be by either causing you to have a specific trait (eg. Eye colour) or your risk of developing a specific disease.
Each combination of genetic letters (called bases) is called a genotype for this specific SNP. Each Genotype can have a different effect on your body. The table below shows which genotype causes which traits or disease risks.
Current research shows 2 disease risks associated with rs401681. The following table shows the relationship between genotype and .
Effect | Likelihood | Level of evidence | Research |
---|---|---|---|
Basal cell carcinoma (BCC) | 1.44x | ||
Common variants modify the age of onset for basal cell carcinomas in Gorlin syndrome (2015) Yasar, Binnaz, Byers, Helen J, Smith, Miriam J, Lear, John, Oudit, Deemesh, Bholah, Zaynab, Roberts, Stephen A, Newman, William G, Evans, D Gareth Text Extract:The risk allele of the variant at the chromosome 5p15 locus encompassing TERT-CLPTM1L (rs401681) was also associated with an earlier median onset of BCC, 31 years (95% CI: 2837) compared with 41 years (95% CI: 3248, HR=1.44, 95% CI: 1.081.93, P=0.014) PMCID: PMCID4402640 | |||
Pancreatic cancer (PC) | 1.19x | ||
Pancreatic Cancer Genetics Amundadottir, Laufey T. Text Extract:The first pancreatic cancer risk locus on 5p15.33 (identified in PanScan II) was marked by an intronic SNP (rs401681, OR=1.19, P=3.7x10-7) in CLPTM1L 58 PMCID: PMCID4753160 |
Effect | Likelihood | Level of evidence | Research |
---|---|---|---|
Basal cell carcinoma (BCC) | 1.00x | ||
Common variants modify the age of onset for basal cell carcinomas in Gorlin syndrome (2015) Yasar, Binnaz, Byers, Helen J, Smith, Miriam J, Lear, John, Oudit, Deemesh, Bholah, Zaynab, Roberts, Stephen A, Newman, William G, Evans, D Gareth Text Extract:The risk allele of the variant at the chromosome 5p15 locus encompassing TERT-CLPTM1L (rs401681) was also associated with an earlier median onset of BCC, 31 years (95% CI: 2837) compared with 41 years (95% CI: 3248, HR=1.44, 95% CI: 1.081.93, P=0.014) PMCID: PMCID4402640 | |||
Pancreatic cancer (PC) | 1.00x | ||
Pancreatic Cancer Genetics Amundadottir, Laufey T. Text Extract:The first pancreatic cancer risk locus on 5p15.33 (identified in PanScan II) was marked by an intronic SNP (rs401681, OR=1.19, P=3.7x10-7) in CLPTM1L 58 PMCID: PMCID4753160 |
Effect | Likelihood | Level of evidence | Research |
---|---|---|---|
Basal cell carcinoma (BCC) | 1.88x | ||
Common variants modify the age of onset for basal cell carcinomas in Gorlin syndrome (2015) Yasar, Binnaz, Byers, Helen J, Smith, Miriam J, Lear, John, Oudit, Deemesh, Bholah, Zaynab, Roberts, Stephen A, Newman, William G, Evans, D Gareth Text Extract:The risk allele of the variant at the chromosome 5p15 locus encompassing TERT-CLPTM1L (rs401681) was also associated with an earlier median onset of BCC, 31 years (95% CI: 2837) compared with 41 years (95% CI: 3248, HR=1.44, 95% CI: 1.081.93, P=0.014) PMCID: PMCID4402640 | |||
Pancreatic cancer (PC) | 1.38x | ||
Pancreatic Cancer Genetics Amundadottir, Laufey T. Text Extract:The first pancreatic cancer risk locus on 5p15.33 (identified in PanScan II) was marked by an intronic SNP (rs401681, OR=1.19, P=3.7x10-7) in CLPTM1L 58 PMCID: PMCID4753160 |
Knowing your genome can actually tell you a lot about your ancestors.
The prevalence of the different genotypes is based on the native inhabitants of a region. In the map below you see how common each genotype is in the native inhabitants of those regions. Since genetic material is passed down form generation to generation, your DNA shows traces of the geographical origins of your ancestors.
This data is based on “The 1000 Genomes Project” which established one of the most detailed overviews of human genetic variations across the globe. The regions are broadly categorized into five continental groups: Africa, America, Europe, South Asia and East Asia. All continental groups together display the global prevalence. Click through the regions, to learn more about the local prevalence of the possible genotypes.
At present, there is no distribution data available for SNP rs401681.
All of the resources below examine SNP rs401681
Yasar, Binnaz, Byers, Helen J, Smith, Miriam J, Lear, John, Oudit, Deemesh, Bholah, Zaynab, Roberts, Stephen A, Newman, William G, Evans, D Gareth
Amundadottir, Laufey T.
Yasar, Binnaz, Byers, Helen J, Smith, Miriam J, Lear, John, Oudit, Deemesh, Bholah, Zaynab, Roberts, Stephen A, Newman, William G, Evans, D Gareth
Amundadottir, Laufey T.
Yasar, Binnaz, Byers, Helen J, Smith, Miriam J, Lear, John, Oudit, Deemesh, Bholah, Zaynab, Roberts, Stephen A, Newman, William G, Evans, D Gareth
Amundadottir, Laufey T.