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Single Nucleotide Polymorphism
One letter makes all the difference
"Imagine making a cake. But the recipe says 'salt' instead of 'sugar'..."
Single Nucleotide Polymorphism or SNP (pronounced "snips") are a single deleation or substitution of a base pair in DNA. This results in genetic variation among people as different people have differences in
the same genetic region.
Although SNP is one little change, the effects can be life changing.
The effects of SNP range from helpful to horrible. Here are just a few examples of SNPs:
Tay-Sach Syndromers76173977 (Child) Chromosome 16 C:C Clinical Variety (no effect) C:T Carrier T:T Disease is present | Hemophiliars121965063 (Factor XI)Chromosome 4 G:G No effect G:T Carrier of Factor XI T:T Factor XI Deficiency (has disease) | Tourette Syndromers9357271 (restless leg syndrome) Chromosome 6 C:C less than 0.63x risk C:T 0.63x risk T:T Normal risk (1x) |
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Cystic Fibrosisrs113993960 Chromosome 7 Deletion: Disease Present 70% of cases deletion:CTT Carrier CTT:CTT Normal | Noonan Syndromers28933386 Chromosome 12 | Cleft Palaters28999109 Chromosome 4 Unknown Genotypes but only found in Chinese, US, SPanish, Indian, Turkish, and Columbian. No association fount in Philippines, Guatemala, or Brazil. |
Alcholismrs1799971 Chromosome 6 A:A 2x risk A:G Greater than A:A G:G More Pain | Alzheimersrs429358 Chromosome 19 C:T More than 3x risk for Alzheimer's, 1.4x risk for heart disease T:T common | HIV Resistancers333 Chromosome 3 (Fix me) Increased risk for abdominal aortic aneurysm |
Eye Colorrs12913832 Chromosome 15 A:A 80% brown eye color A:G Brown Eye color G:G 99% Blue Eye color | Childhood Obesityrs10098647 Chromosome 8 New found point of interest in the childhood obesity of Hispanic people | Ear Wax Consistencyrs17822931 Chromosome 16 C:C Wet earwax C:T Wet Earwax T:T Dry Earwax (most likely Asian Descent) |
Lactose Intolerancers4988235 Chromosome 2 C:C Possible Lactose Intolerance C:T Can Digest T:T Can Digest |
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