rs118192177, 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.
Malignant hyperthermia susceptibility type 1
CUI: C2930980
Disease: Malignant hyperthermia susceptibility type 1
97 0.851 0.160 19 38496283 missense variant C/G;T snv 2.0E-05 0.800 0
Malignant hyperpyrexia due to anesthesia
CUI: C0024591
Disease: Malignant hyperpyrexia due to anesthesia
52 0.851 0.160 19 38496283 missense variant C/G;T snv 2.0E-05 0.720 1.000 8 1998 2015
Blepharoptosis
CUI: C0005745
Disease: Blepharoptosis
57 0.851 0.160 19 38496283 missense variant C/G;T snv 2.0E-05 0.700 0
Sacral agenesis
CUI: C0344490
Disease: Sacral agenesis
1 0.851 0.160 19 38496283 missense variant C/G;T snv 2.0E-05 0.700 0
Caffeine related disorders
CUI: C0236734
Disease: Caffeine related disorders
56 0.851 0.160 19 38496283 missense variant C/G;T snv 2.0E-05 0.010 1.000 1 2002 2002
Myopathy
CUI: C0026848
Disease: Myopathy
166 0.851 0.160 19 38496283 missense variant C/G;T snv 2.0E-05 0.010 1.000 1 2010 2010