rs118192161, RYR1

N. diseases: 5
Source: ALL
Disease N. SNPs d DSI v DPI v Chr Position Consequence Alleles Class AFEXOME AFGENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
Central Core Myopathy (disorder)
CUI: C0751951
Disease: Central Core Myopathy (disorder)
110 0.882 0.120 19 38444211 missense variant C/T snv 0.730 1.000 3 2001 2011
Malignant hyperthermia susceptibility type 1
CUI: C2930980
Disease: Malignant hyperthermia susceptibility type 1
97 0.882 0.120 19 38444211 missense variant C/T snv 0.700 0
Malignant hyperpyrexia due to anesthesia
CUI: C0024591
Disease: Malignant hyperpyrexia due to anesthesia
52 0.882 0.120 19 38444211 missense variant C/T snv 0.060 1.000 6 1995 2011
Caffeine related disorders
CUI: C0236734
Disease: Caffeine related disorders
56 0.882 0.120 19 38444211 missense variant C/T snv 0.010 1.000 1 2002 2002
Fever
CUI: C0015967
Disease: Fever
66 0.882 0.120 19 38444211 missense variant C/T snv 0.010 1.000 1 2011 2011