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: rs8192466
rs8192466
1.000 0.120 11 27658560 missense variant G/A;T snv 1.3E-03; 1.6E-04
CUI: C1275808
Disease: Congenital central hypoventilation
Congenital central hypoventilation
Pathological Conditions, Signs and Symptoms; Respiratory Tract Diseases; Nervous System Diseases 0.700 1.000 2 2002 2010