RS1057518940 RYR1

Health Risk Chr 19:38499718
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What This Variant Does
"CLNSIG=5
Associated Conditions
Delayed gross motor development
Congenital contracture
Short stature
Proximal amyotrophy
Congenital myopathy with fiber type disproportion
RYR1-related disorder
Delayed gross motor development
Congenital contracture
Short stature
Proximal amyotrophy
Congenital myopathy with fiber type disproportion
RYR1-related disorder
Other Variants in RYR1
rs118192167 rs193922747 rs118192161 rs118192116 rs118192122 rs121918593 rs28933397 rs118192124 rs121918595 rs118192170
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