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: rs118192168
rs118192168
RYR1
0.882 0.120 19 38580403 missense variant G/A snv 1.6E-05 7.0E-06
CUI: C0751951
Disease: Central Core Myopathy (disorder)
Central Core Myopathy (disorder) 		0.700 0
dbSNP: rs118192168
rs118192168
RYR1
0.882 0.120 19 38580403 missense variant G/A snv 1.6E-05 7.0E-06
CUI: C2930980
Disease: Malignant hyperthermia susceptibility type 1
Malignant hyperthermia susceptibility type 1 		0.700 0