rs121918592, RYR1

N. diseases: 4
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 0.882 0.080 19 38448712 missense variant G/A;C snv 0.700 1.000 20 1991 2015
Malignant hyperpyrexia due to anesthesia
CUI: C0024591
Disease: Malignant hyperpyrexia due to anesthesia
52 0.882 0.080 19 38448712 missense variant G/A;C snv 0.050 0.800 5 1995 1998
Caffeine related disorders
CUI: C0236734
Disease: Caffeine related disorders
56 0.882 0.080 19 38448712 missense variant G/A;C snv 0.010 1.000 1 2002 2002
Contracture
CUI: C0009917
Disease: Contracture
12 0.882 0.080 19 38448712 missense variant G/A;C snv 0.010 1.000 1 1998 1998