Gene: RYR2 ×
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: rs3766871
rs3766871
RYR2
9 0.790 0.240 1 237614784 missense variant G/A;T snv 4.0E-02 0.020 1.000 2 2010 2015
dbSNP: rs121918600
rs121918600
RYR2
5 0.882 0.080 1 237791441 missense variant C/T snv 0.010 1.000 1 2013 2013
dbSNP: rs121918604
rs121918604
RYR2
3 0.882 0.080 1 237798037 missense variant G/A;T snv 1.7E-05 0.010 1.000 1 2004 2004
dbSNP: rs1266360671
rs1266360671
RYR2
3 0.925 0.080 1 237270518 missense variant T/C snv 4.7E-06 0.010 1.000 1 2015 2015
dbSNP: rs764772142
rs764772142
RYR2
2 0.925 0.080 1 237377349 missense variant C/A;T snv 8.0E-06 0.010 1.000 1 2019 2019
dbSNP: rs765835441
rs765835441
RYR2
1 1.000 0.080 1 237726291 missense variant C/T snv 2.7E-05 2.1E-05 0.010 1.000 1 2011 2011
dbSNP: rs794728708
rs794728708
RYR2
8 0.827 0.120 1 237377386 missense variant G/A;T snv 0.010 1.000 1 2009 2009