RS138194008 MYH3

Health Risk Chr 17:10630354 snv missense variant
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Associated Conditions
Freeman-Sheldon syndrome
Distal arthrogryposis type 2B1
Inborn genetic diseases
MYH3-related disorder
Freeman-Sheldon syndrome
Distal arthrogryposis type 2B1
Inborn genetic diseases
MYH3-related disorder
Population Frequencies
gnomAD ALL
0%
1kG AFR
1.1%
1kG ALL
0.3%
1kG AMR
100%
1kG EAS
100%
1kG EUR
100%
1kG SAS
100%
Other Variants in MYH3
rs121913617 rs121913618 rs121913619 rs121913620 rs879255230 rs121913621 rs121913623 rs796051884 rs1555527166 rs1555524879
Ask Dr. Hemsworth about this variant