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: rs794728708
rs794728708
RYR2
8 0.827 0.120 1 237377386 missense variant G/A;T snv 0.030 1.000 3 2009 2018
dbSNP: rs121918602
rs121918602
RYR2
3 0.925 0.120 1 237454396 missense variant T/C snv 0.010 1.000 1 2015 2015
dbSNP: rs121918606
rs121918606
RYR2
3 0.925 0.080 1 237819181 missense variant C/G snv 0.010 1.000 1 2015 2015
dbSNP: rs3766871
rs3766871
RYR2
9 0.790 0.240 1 237614784 missense variant G/A;T snv 4.0E-02 0.010 1.000 1 2015 2015
dbSNP: rs779640835
rs779640835
RYR2
2 1.000 0.040 1 237566723 missense variant C/A;T snv 4.0E-06; 2.8E-05 0.010 1.000 1 2019 2019
dbSNP: rs794728721
rs794728721
RYR2
3 0.925 0.080 1 237445489 missense variant G/A snv 0.010 1.000 1 2017 2017