RS111920492 SACS

Health Risk Chr 13:23336347 snv missense variant
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Associated Conditions
Spastic paraplegia
Charlevoix-Saguenay spastic ataxia
Hereditary spastic paraplegia
SACS-related disorder
Intellectual disability
Spastic paraplegia
Charlevoix-Saguenay spastic ataxia
Hereditary spastic paraplegia
SACS-related disorder
Intellectual disability
Population Frequencies
gnomAD ALL
99.8%
1kG AFR
100%
1kG ALL
0%
1kG AMR
0.1%
1kG EAS
100%
1kG EUR
100%
1kG SAS
100%
Other Variants in SACS
rs281865117 rs281865118 rs137853016 rs2137634136 rs137853017 rs606231163 rs137853018 rs137853019 rs2137724246 rs2137716138
Ask Dr. Hemsworth about this variant