RYR2, ryanodine receptor 2, 6262

N. diseases: 160; N. variants: 116
Disease: Cardiomyopathies ×
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: rs193922626
rs193922626 		1 237590901 missense variant G/A;C snv 1.6E-05; 4.8E-05
CUI: C0878544
Disease: Cardiomyopathies
Cardiomyopathies 		Cardiovascular Diseases 0.700 0
dbSNP: rs794728826
rs794728826 		1 237781618 missense variant G/A snv
CUI: C0878544
Disease: Cardiomyopathies
Cardiomyopathies 		Cardiovascular Diseases 0.700 0