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: rs1057518970
rs1057518970
RYR1
3 1.000 0.120 19 38448398 missense variant C/T snv 8.0E-06 2.1E-05 0.700 0
dbSNP: rs774919231
rs774919231
RYR1
3 1.000 0.120 19 38451827 stop gained G/A;T snv 8.0E-06 0.700 0