RYR2, ryanodine receptor 2, 6262

N. diseases: 160; N. variants: 116
Disease: Left ventricular noncompaction cardiomyopathy ×
Source: ALL
Variant DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Disease Class Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs730880199
rs730880199 		0.925 0.080 1 237819167 missense variant T/G snv
CUI: C4021133
Disease: Left ventricular noncompaction cardiomyopathy
Left ventricular noncompaction cardiomyopathy 		Pathological Conditions, Signs and Symptoms 0.700 0