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: rs118192116
rs118192116
RYR1
0.925 0.120 19 38451850 missense variant C/G;T snv 4.0E-06
CUI: C0751951
Disease: Central Core Myopathy (disorder)
Central Core Myopathy (disorder) 		0.710 1.000 0 1995 1995
dbSNP: rs118192116
rs118192116
RYR1
0.925 0.120 19 38451850 missense variant C/G;T snv 4.0E-06
CUI: C2930980
Disease: Malignant hyperthermia susceptibility type 1
Malignant hyperthermia susceptibility type 1 		0.700 0