GLRA1, glycine receptor alpha 1, 2741

N. diseases: 75; N. variants: 32
Disease: Hereditary Hyperexplexia ×
Source: ALL
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: rs121918416
rs121918416 		0.882 0.160 5 151851440 missense variant C/T snv
CUI: C1835614
Disease: Hereditary Hyperexplexia
Hereditary Hyperexplexia 		Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases 0.010 1.000 1 2001 2001