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: rs121918601
rs121918601
RYR2
2 0.925 0.120 1 237640938 missense variant A/T snv 0.800 1.000 1 2001 2001
dbSNP: rs121918602
rs121918602
RYR2
3 0.925 0.120 1 237454396 missense variant T/C snv 0.800 1.000 1 2001 2001
dbSNP: rs769219555
rs769219555
RYR2
2 0.925 0.120 1 237648612 missense variant C/T snv 4.2E-05 8.4E-05 0.700 1.000 1 2001 2001
dbSNP: rs190140598
rs190140598
RYR2
4 0.851 0.120 1 237445488 missense variant C/A;T snv 1.2E-05 0.700 0
dbSNP: rs794728708
rs794728708
RYR2
8 0.827 0.120 1 237377386 missense variant G/A;T snv 0.700 0