Source: CLINVAR

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs1057518970
rs1057518970
RYR1
1.000 0.120 19 38448398 missense variant C/T snv 8.0E-06 2.1E-05
CUI: C0035229
Disease: Respiratory Insufficiency
Respiratory Insufficiency 		0.700 0
dbSNP: rs1057518970
rs1057518970
RYR1
1.000 0.120 19 38448398 missense variant C/T snv 8.0E-06 2.1E-05
CUI: C0026848
Disease: Myopathy
Myopathy 		0.700 0
dbSNP: rs1057518970
rs1057518970
RYR1
1.000 0.120 19 38448398 missense variant C/T snv 8.0E-06 2.1E-05
CUI: C0699743
Disease: Congenital muscular dystrophy (disorder)
Congenital muscular dystrophy (disorder) 		0.700 0