Zustand
Thanatophoric dysplasia
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Varianten, die Thanatophoric dysplasia basierend auf klinischen Tests beeinflussen
Klinische Testklassifikationen sind darauf ausgelegt, Ärzten dabei zu helfen, zu verstehen, wie genetische Veränderungen, bekannt als Varianten, die Gesundheit einer Person beeinflussen könnten und medizinische Entscheidungen leiten. Varianten werden als Krankheitsverursachend (schädlich), Wahrscheinlich Krankheitsverursachend, Unbekannte Wirkung (unbekannte Auswirkung), Wahrscheinlich Keine Wirkung (wahrscheinlich nicht schädlich) und Keine Wirkung (nicht schädlich) gekennzeichnet. Diese Klassifizierung stützt sich auf eine Mischung aus Familiengeschichte, Labortests und Computerprognosen, um die Auswirkungen der Varianten zu bestimmen.
Varianten, die sowohl biologische Männer als auch Frauen betreffen
78311289
Genotype
A
A
Level of evidence
Kein Effekt
Unisex
1 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
Krankheitsverursachend
Unisex
1 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
Krankheitsverursachend
Unisex
1 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
A
A
Level of evidence
Kein Effekt
Unisex
1 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
Krankheitsverursachend
Unisex
1 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
Krankheitsverursachend
Unisex
1 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.
121913101
Genotype
C
C
Level of evidence
Wahrscheinlich krankheitsverursachend
Unisex
1 Sources
Participants: 0
The genotype with the letters C/C is considered likely disease causing. This means that the scientific evidence is still somewhat unclear about its effect. Carriers of this genetic result are often affected by the disease.
Genotype
T
T
Level of evidence
Kein Effekt
Unisex
1 Sources
Participants: 0
The genotype with the letters T/T 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
T
Level of evidence
Wahrscheinlich krankheitsverursachend
Unisex
1 Sources
Participants: 0
The genotype with the letters C/T is considered likely disease causing. This means that the scientific evidence is still somewhat unclear about its effect. Carriers of this genetic result are often affected by the disease.
Genotype
C
C
Level of evidence
Wahrscheinlich krankheitsverursachend
Unisex
1 Sources
Participants: 0
The genotype with the letters C/C is considered likely disease causing. This means that the scientific evidence is still somewhat unclear about its effect. Carriers of this genetic result are often affected by the disease.
Genotype
T
T
Level of evidence
Kein Effekt
Unisex
1 Sources
Participants: 0
The genotype with the letters T/T 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
T
Level of evidence
Wahrscheinlich krankheitsverursachend
Unisex
1 Sources
Participants: 0
The genotype with the letters C/T is considered likely disease causing. This means that the scientific evidence is still somewhat unclear about its effect. Carriers of this genetic result are often affected by the disease.