rs118192170, RYR1

N. diseases: 6
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 38584989 missense variant T/A;C snv 0.760 1.000 6 2001 2011
Muscle Weakness
CUI: C0151786
Disease: Muscle Weakness
87 0.882 0.120 19 38584989 missense variant T/A;C snv 0.020 1.000 2 2001 2002
Paresis
CUI: C0030552
Disease: Paresis
49 0.882 0.120 19 38584989 missense variant T/A;C snv 0.020 1.000 2 2001 2002
Caffeine related disorders
CUI: C0236734
Disease: Caffeine related disorders
56 0.882 0.120 19 38584989 missense variant T/A;C snv 0.010 1.000 1 2005 2005
Malignant hyperpyrexia due to anesthesia
CUI: C0024591
Disease: Malignant hyperpyrexia due to anesthesia
52 0.882 0.120 19 38584989 missense variant T/A;C snv 0.010 1.000 1 2005 2005
Myopathies, Nemaline
CUI: C0206157
Disease: Myopathies, Nemaline
42 0.882 0.120 19 38584989 missense variant T/A;C snv 0.010 1.000 1 2011 2011