Source: CLINVAR

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs797045932
rs797045932
RYR1
19 38460515 frameshift variant G/- delins 2.8E-05
CUI: C0026848
Disease: Myopathy
Myopathy 		0.700 0