GLRA1, glycine receptor alpha 1, 2741

N. diseases: 75; N. variants: 32
Disease: 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: rs200130685
rs200130685 		5 151822698 missense variant C/T snv 6.4E-05 5.6E-05
CUI: C0234166
Disease: Hyperexplexia
Hyperexplexia 		Nervous System Diseases 0.010 1.000 1 2016 2016