RYR1, ryanodine receptor 1, 6261

N. diseases: 34; N. variants: 121
Disease: Blepharoptosis ×
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: rs118192177
rs118192177 		0.851 0.160 19 38496283 missense variant C/G;T snv 2.0E-05
CUI: C0005745
Disease: Blepharoptosis
Blepharoptosis 		Eye Diseases 0.700 0