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: rs118192171
rs118192171
RYR1
2 0.925 0.080 19 38585057 missense variant TT/AC mnv 0.700 0
dbSNP: rs193922856
rs193922856
RYR1
1 1.000 0.080 19 38565342 frameshift variant CAGCAGTGACGCGCGCTGGG/- delins 0.700 0