Source: ALL
Variant Gene N. diseases v DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs1273246817
rs1273246817
RYR2
3 0.882 0.080 1 237784169 missense variant A/C snv 0.010 1.000 1 2013 2013