Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1057518940
rs1057518940
RYR1
CUI: C1837658
Disease: Gross motor development delay
Gross motor development delay 		A 0.700 CausalMutation CLINVAR

dbSNP: rs1057518940
rs1057518940
RYR1
CUI: C1850794
Disease: Proximal amyotrophy
Proximal amyotrophy 		A 0.700 CausalMutation CLINVAR

dbSNP: rs1057518940
rs1057518940
RYR1
CUI: C0349588
Disease: Short stature
Short stature 		A 0.700 CausalMutation CLINVAR

dbSNP: rs1057518940
rs1057518940
RYR1
CUI: C0332878
Disease: Congenital contracture
Congenital contracture 		A 0.700 CausalMutation CLINVAR