RYR1, ryanodine receptor 1, 6261

N. diseases: 34; N. variants: 121
Disease: Movement Disorders ×
Source: CLINVAR ×
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: rs1555801872
rs1555801872 		19 38572152 inframe insertion -/ATGGTGTACTACTTC delins
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		Nervous System Diseases 0.700 1.000 12 1973 2013