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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 Syndrome

Tay-Sach Syndrome

rs76173977 (Child) Chromosome 16 C:C Clinical Variety (no effect) C:T Carrier T:T Disease is present

Hemophilia

Hemophilia

rs121965063 (Factor XI)Chromosome 4 G:G No effect G:T Carrier of Factor XI T:T Factor XI Deficiency (has disease)

Tourette Syndrome

Tourette Syndrome

rs9357271 (restless leg syndrome) Chromosome 6 C:C less than 0.63x risk C:T 0.63x risk T:T Normal risk (1x)

Cystic Fibrosis

Cystic Fibrosis

rs113993960 Chromosome 7 Deletion: Disease Present 70% of cases deletion:CTT Carrier CTT:CTT Normal

Noonan Syndrome

Noonan Syndrome

rs28933386 Chromosome 12

Cleft Palate

Cleft Palate

rs28999109 Chromosome 4 Unknown Genotypes but only found in Chinese, US, SPanish, Indian, Turkish, and Columbian. No association fount in Philippines, Guatemala, or Brazil.

Alcholism

Alcholism

rs1799971 Chromosome 6 A:A 2x risk A:G Greater than A:A G:G More Pain

Alzheimers

Alzheimers

rs429358 Chromosome 19 C:T More than 3x risk for Alzheimer's, 1.4x risk for heart disease T:T common

HIV Resistance

HIV Resistance

rs333 Chromosome 3 (Fix me) Increased risk for abdominal aortic aneurysm

Eye Color

Eye Color

rs12913832 Chromosome 15 A:A 80% brown eye color A:G Brown Eye color G:G 99% Blue Eye color

Childhood Obesity

Childhood Obesity

rs10098647 Chromosome 8 New found point of interest in the childhood obesity of Hispanic people

Ear Wax Consistency

Ear Wax Consistency

rs17822931 Chromosome 16 C:C Wet earwax C:T Wet Earwax T:T Dry Earwax (most likely Asian Descent)

Lactose Intolerance

Lactose Intolerance

rs4988235 Chromosome 2 C:C Possible Lactose Intolerance C:T Can Digest T:T Can Digest

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