Disease: Congenital central hypoventilation ×
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: rs267606667
rs267606667 		1.000 0.120 12 102958296 missense variant C/A snv
CUI: C1275808
Disease: Congenital central hypoventilation
Congenital central hypoventilation 		Pathological Conditions, Signs and Symptoms; Respiratory Tract Diseases; Nervous System Diseases 0.700 0