rs193922837, 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.
Central Core Myopathy (disorder)
CUI: C0751951
Disease: Central Core Myopathy (disorder)
110 0.851 0.160 19 38523211 splice region variant C/G snv 2.0E-05 9.8E-05 0.700 0
Congenital Fiber Type Disproportion
CUI: C0546264
Disease: Congenital Fiber Type Disproportion
49 0.851 0.160 19 38523211 splice region variant C/G snv 2.0E-05 9.8E-05 0.700 0
Malignant hyperthermia susceptibility type 1
CUI: C2930980
Disease: Malignant hyperthermia susceptibility type 1
97 0.851 0.160 19 38523211 splice region variant C/G snv 2.0E-05 9.8E-05 0.700 0
MINICORE MYOPATHY WITH EXTERNAL OPHTHALMOPLEGIA (disorder)
CUI: C1850674
Disease: MINICORE MYOPATHY WITH EXTERNAL OPHTHALMOPLEGIA (disorder)
20 0.851 0.160 19 38523211 splice region variant C/G snv 2.0E-05 9.8E-05 0.700 0