RYR1, ryanodine receptor 1, 6261

N. diseases: 34; N. variants: 121
Disease: Congenital clubfoot ×
Source: CLINVAR ×
Variant DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Disease Class Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs118192174
rs118192174 		0.882 0.200 19 38499961 missense variant T/A snv 2.0E-05 2.1E-05
CUI: C0009081
Disease: Congenital clubfoot
Congenital clubfoot 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.700 0