Disease: Choanal Atresia ×
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: rs121434341
rs121434341 		0.807 0.360 8 60855993 missense variant C/A;T snv
CUI: C0008297
Disease: Choanal Atresia
Choanal Atresia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Respiratory Tract Diseases; Otorhinolaryngologic Diseases 0.700 0
dbSNP: rs1554603293
rs1554603293 		0.752 0.320 8 60849154 missense variant G/A snv
CUI: C0008297
Disease: Choanal Atresia
Choanal Atresia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Respiratory Tract Diseases; Otorhinolaryngologic Diseases 0.700 0
dbSNP: rs367557471
rs367557471 		1.000 0.120 8 60822055 stop gained C/A;T snv 5.2E-05 7.0E-05
CUI: C0008297
Disease: Choanal Atresia
Choanal Atresia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Respiratory Tract Diseases; Otorhinolaryngologic Diseases 0.700 0