RYR2, ryanodine receptor 2, 6262

N. diseases: 160; N. variants: 116
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: rs2819742
rs2819742
1 237826822 intron variant A/G;T snv
CUI: C0035410
Disease: Rhabdomyolysis
Rhabdomyolysis
Musculoskeletal Diseases 0.700 1.000 1 2011 2011