RYR2, ryanodine receptor 2, 6262

N. diseases: 160; N. variants: 116
Disease: Cardiomyopathy, Dilated ×
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: rs1266360671
rs1266360671 		0.925 0.080 1 237270518 missense variant T/C snv 4.7E-06
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated 		Cardiovascular Diseases 0.010 1.000 1 2015 2015
dbSNP: rs1332805343
rs1332805343 		1 237496705 missense variant G/C snv 4.0E-06
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated 		Cardiovascular Diseases 0.010 1.000 1 2018 2018