rs763944786, RYR1

N. diseases: 5
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Progressive distal muscle weakness
CUI: C1836609
Disease: Progressive distal muscle weakness
0.700 GeneticVariation CLINVAR
Pelvic girdle weakness
CUI: C0427064
Disease: Pelvic girdle weakness
0.700 GeneticVariation CLINVAR
Scoliosis, unspecified
CUI: C0036439
Disease: Scoliosis, unspecified
0.700 GeneticVariation CLINVAR
Proximal muscle weakness
CUI: C0221629
Disease: Proximal muscle weakness
0.700 GeneticVariation CLINVAR
Gross motor development delay
CUI: C1837658
Disease: Gross motor development delay
0.700 GeneticVariation CLINVAR