Overview

SNPs are specific locations in the DNA where genetic variations can occur. Every person has a unique composition of variations.

SNP rs8001641 is located on chromosome 13. The most common variation at this position is the G. People with other variations might have letter A 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 rs8001641 there are 3 currently known genotypes: C/T , C/C or T/T

Genome Browser

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 rs8001641. Explore more SNPs and their effects on the body by browsing left and right along the DNA strand.

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Mitochondrial DNAMitochondrial DNA
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Effects relating to rs8001641

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 1 disease risks associated with rs8001641. The following table shows the relationship between genotype and .



Genotype CT

Effect Likelihood Level of evidenceResearch
Cleft lip with cleft palate
1.86x
Replication of 13q31.1 Association in Nonsyndromic Cleft Lip with Cleft Palate in Europeans (2015)

Jia, Zhonglin, Leslie, Elizabeth J., Cooper, Margaret E., Butali, Azeez, Standley, Jennifer, Rigdon, Jennifer, Suzuki1, Satoshi, Gongorjav, Ayana, Shonkhuuz, T. Enkhtur, Natsume, Nagato, Shi, Bing, Marazita, Mary L., Murray, Jeffrey C.

Text Extract:

We found rs8001641 to be significantly associated with cleft lip with cleft palate (NSCLP) in Europeans (p-value=4 105, ORtransmission=1.86 with 95% confidence interval: 1.38-2.52)

PMCID: PMCID4402974
Read on PMC
Legend:
Increased probability
Decreased probability
No known effect

Genotype CC

Effect Likelihood Level of evidenceResearch
Cleft lip with cleft palate
1.00x
Replication of 13q31.1 Association in Nonsyndromic Cleft Lip with Cleft Palate in Europeans (2015)

Jia, Zhonglin, Leslie, Elizabeth J., Cooper, Margaret E., Butali, Azeez, Standley, Jennifer, Rigdon, Jennifer, Suzuki1, Satoshi, Gongorjav, Ayana, Shonkhuuz, T. Enkhtur, Natsume, Nagato, Shi, Bing, Marazita, Mary L., Murray, Jeffrey C.

Text Extract:

We found rs8001641 to be significantly associated with cleft lip with cleft palate (NSCLP) in Europeans (p-value=4 105, ORtransmission=1.86 with 95% confidence interval: 1.38-2.52)

PMCID: PMCID4402974
Read on PMC
Legend:
Increased probability
Decreased probability
No known effect

Genotype TT

Effect Likelihood Level of evidenceResearch
Cleft lip with cleft palate
2.72x
Replication of 13q31.1 Association in Nonsyndromic Cleft Lip with Cleft Palate in Europeans (2015)

Jia, Zhonglin, Leslie, Elizabeth J., Cooper, Margaret E., Butali, Azeez, Standley, Jennifer, Rigdon, Jennifer, Suzuki1, Satoshi, Gongorjav, Ayana, Shonkhuuz, T. Enkhtur, Natsume, Nagato, Shi, Bing, Marazita, Mary L., Murray, Jeffrey C.

Text Extract:

We found rs8001641 to be significantly associated with cleft lip with cleft palate (NSCLP) in Europeans (p-value=4 105, ORtransmission=1.86 with 95% confidence interval: 1.38-2.52)

PMCID: PMCID4402974
Read on PMC
Legend:
Increased probability
Decreased probability
No known effect

Distribution

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 rs8001641.

Studies and sources

All of the resources below examine SNP rs8001641

Genotype CT

Replication of 13q31.1 Association in Nonsyndromic Cleft Lip with Cleft Palate in Europeans (2015)

Jia, Zhonglin, Leslie, Elizabeth J., Cooper, Margaret E., Butali, Azeez, Standley, Jennifer, Rigdon, Jennifer, Suzuki1, Satoshi, Gongorjav, Ayana, Shonkhuuz, T. Enkhtur, Natsume, Nagato, Shi, Bing, Marazita, Mary L., Murray, Jeffrey C.

PMCID: PMCID4402974

Genotype CC

Replication of 13q31.1 Association in Nonsyndromic Cleft Lip with Cleft Palate in Europeans (2015)

Jia, Zhonglin, Leslie, Elizabeth J., Cooper, Margaret E., Butali, Azeez, Standley, Jennifer, Rigdon, Jennifer, Suzuki1, Satoshi, Gongorjav, Ayana, Shonkhuuz, T. Enkhtur, Natsume, Nagato, Shi, Bing, Marazita, Mary L., Murray, Jeffrey C.

PMCID: PMCID4402974

Genotype TT

Replication of 13q31.1 Association in Nonsyndromic Cleft Lip with Cleft Palate in Europeans (2015)

Jia, Zhonglin, Leslie, Elizabeth J., Cooper, Margaret E., Butali, Azeez, Standley, Jennifer, Rigdon, Jennifer, Suzuki1, Satoshi, Gongorjav, Ayana, Shonkhuuz, T. Enkhtur, Natsume, Nagato, Shi, Bing, Marazita, Mary L., Murray, Jeffrey C.

PMCID: PMCID4402974