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: rs121918598
rs121918598
0.851 0.080 1 237648523 missense variant G/A;C snv
CUI: C0018801
Disease: Heart failure
Heart failure
Cardiovascular Diseases 0.010 1.000 1 2018 2018
dbSNP: rs3766871
rs3766871
0.790 0.240 1 237614784 missense variant G/A;T snv 4.0E-02
CUI: C0018801
Disease: Heart failure
Heart failure
Cardiovascular Diseases 0.010 1.000 1 2015 2015