RS139476915 VRK1
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Associated Conditions
Pontocerebellar hypoplasia type 1A
Congenital pontocerebellar hypoplasia type 1
Distal spinal muscular atrophy
Inborn genetic diseases
VRK1-related disorder
Amyotrophic lateral sclerosis
Neuronopathy
distal hereditary motor
autosomal recessive
Spinal muscular atrophy
Pontocerebellar hypoplasia type 1A
Congenital pontocerebellar hypoplasia type 1
Distal spinal muscular atrophy
Inborn genetic diseases
VRK1-related disorder
Population Frequencies
gnomAD ALL
99.9%
1kG AFR
100%
1kG ALL
99.9%
1kG AMR
0.3%
1kG EAS
100%
1kG EUR
0.2%
1kG SAS
100%
Other Variants in VRK1