rs1057518970, RYR1

N. diseases: 3
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.
Congenital muscular dystrophy (disorder)
CUI: C0699743
Disease: Congenital muscular dystrophy (disorder)
20 1.000 0.120 19 38448398 missense variant C/T snv 8.0E-06 2.1E-05 0.700 0
Myopathy
CUI: C0026848
Disease: Myopathy
166 1.000 0.120 19 38448398 missense variant C/T snv 8.0E-06 2.1E-05 0.700 0
Respiratory Insufficiency
CUI: C0035229
Disease: Respiratory Insufficiency
15 1.000 0.120 19 38448398 missense variant C/T snv 8.0E-06 2.1E-05 0.700 0