RS387907219 TRPV4
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What This Variant Does
"CLNSIG=5
Associated Conditions
Familial digital arthropathy-brachydactyly
Brachyrachia (short spine dysplasia)
Metatropic dysplasia
Spondylometaphyseal dysplasia
Kozlowski type
Scapuloperoneal spinal muscular atrophy
Charcot-Marie-Tooth disease axonal type 2C
Neuronopathy
distal hereditary motor
autosomal dominant 8
Inborn genetic diseases
Familial digital arthropathy-brachydactyly
Brachyrachia (short spine dysplasia)
Metatropic dysplasia
Spondylometaphyseal dysplasia
Other Variants in TRPV4