Gene: RYR1 ×
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: rs193922879
rs193922879
RYR1
2 1.000 0.080 19 38580382 missense variant G/A snv 7.6E-05 1.1E-04 0.700 1.000 8 2008 2015
dbSNP: rs193922839
rs193922839
RYR1
3 0.925 0.120 19 38534775 missense variant G/A;C snv 1.6E-05; 4.0E-06 0.700 1.000 5 2007 2013
dbSNP: rs200563280
rs200563280
RYR1
4 0.882 0.160 19 38496466 stop gained C/G;T snv 4.0E-06; 1.6E-04 0.700 1.000 4 2010 2014