Variants can be classified either based on clinical tests or scientific studies. In the classification based on clinical tests, the variants are divided into five categories from Disease Causing (harmful) to No Effect (not harmful). This classification is based on family histories, laboratory tests and computer predictions and is intended to help doctors make medical decisions. The aim is to recognize the immediate health impact of variants on the human body. Classification based on scientific studies, however, is about understanding the long-term effects. It aims to identify the influence of genetic variants in conditions, traits, and evolution. Variants are classified into different categories based on their functional impact: Loss-of-Function (reduced gene activity), Gain-of-Function (increased gene activity), Neutral (no significant impact) and Evolutionary Conservation. This classification uses experimental data, population studies, and computational analyses.
Genotype
C
C
Level of evidence
No Effect
Unisex
2 Sources
Participants: 0
The genotype with the letters C/C is thought to have no effect on your disease risk. Carriers of this genetic result are usually not at risk of developing the disease.
Genotype
T
T
Level of evidence
Disease causing
Unisex
2 Sources
Participants: 0
The genotype with the letters T/T is considered disease causing. Carriers of this genetic result are typically affected by the disease.
Genotype
C
T
Level of evidence
Disease causing
Unisex
2 Sources
Participants: 0
The genotype with the letters C/T is considered disease causing. Carriers of this genetic result are typically affected by the disease.
Genotype
A
A
Level of evidence
No Effect
Unisex
2 Sources
Participants: 0
The genotype with the letters A/A is thought to have no effect on your disease risk. Carriers of this genetic result are usually not at risk of developing the disease.
Genotype
G
G
Level of evidence
Disease causing
Unisex
2 Sources
Participants: 0
The genotype with the letters G/G is considered disease causing. Carriers of this genetic result are typically affected by the disease.
Genotype
A
G
Level of evidence
Disease causing
Unisex
2 Sources
Participants: 0
The genotype with the letters A/G is considered disease causing. Carriers of this genetic result are typically affected by the disease.
Genotype
C
C
Level of evidence
Disease causing
Unisex
1 Sources
Participants: 0
The genotype with the letters C/C is considered disease causing. Carriers of this genetic result are typically affected by the disease.
Genotype
G
G
Level of evidence
No Effect
Unisex
1 Sources
Participants: 0
The genotype with the letters G/G is thought to have no effect on your disease risk. Carriers of this genetic result are usually not at risk of developing the disease.
Genotype
C
G
Level of evidence
Disease causing
Unisex
1 Sources
Participants: 0
The genotype with the letters C/G is considered disease causing. Carriers of this genetic result are typically affected by the disease.