Source: UNIPROT

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs118192161
rs118192161
RYR1
0.882 0.120 19 38444211 missense variant C/T snv
CUI: C0751951
Disease: Central Core Myopathy (disorder)
Central Core Myopathy (disorder) 		0.730 1.000 0 2001 2011
dbSNP: rs118192161
rs118192161
RYR1
0.882 0.120 19 38444211 missense variant C/T snv
CUI: C2930980
Disease: Malignant hyperthermia susceptibility type 1
Malignant hyperthermia susceptibility type 1 		0.700 0