CHAT, choline O-acetyltransferase, 1103

N. diseases: 230; N. variants: 39
Disease: Sleep Apnea, Central ×
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: rs201439531
rs201439531 		0.827 0.200 10 49664880 missense variant C/G snv 7.0E-06
CUI: C0520680
Disease: Sleep Apnea, Central
Sleep Apnea, Central 		Respiratory Tract Diseases; Nervous System Diseases 0.700 0
dbSNP: rs769234940
rs769234940 		0.827 0.200 10 49627735 missense variant C/T snv 1.6E-05 2.8E-05
CUI: C0520680
Disease: Sleep Apnea, Central
Sleep Apnea, Central 		Respiratory Tract Diseases; Nervous System Diseases 0.700 0