rs118192162, 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 0.851 0.120 19 38455359 missense variant A/C;G snv 0.720 1.000 4 2003 2012
Malignant hyperthermia susceptibility type 1
CUI: C2930980
Disease: Malignant hyperthermia susceptibility type 1
97 0.851 0.120 19 38455359 missense variant A/C;G snv 0.700 0
Malignant hyperpyrexia due to anesthesia
CUI: C0024591
Disease: Malignant hyperpyrexia due to anesthesia
52 0.851 0.120 19 38455359 missense variant A/C;G snv 0.060 1.000 6 2005 2019
Caffeine related disorders
CUI: C0236734
Disease: Caffeine related disorders
56 0.851 0.120 19 38455359 missense variant A/C;G snv 0.010 1.000 1 2005 2005
Cerebrovascular accident
CUI: C0038454
Disease: Cerebrovascular accident
591 0.851 0.120 19 38455359 missense variant A/C;G snv 0.010 1.000 1 2008 2008
Contracture
CUI: C0009917
Disease: Contracture
12 0.851 0.120 19 38455359 missense variant A/C;G snv 0.010 1.000 1 2008 2008