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: rs1353175955
rs1353175955
0.925 0.200 19 38290170 missense variant G/A snv 4.0E-06
CUI: C0008297
Disease: Choanal Atresia
Choanal Atresia
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Respiratory Tract Diseases; Otorhinolaryngologic Diseases 0.010 1.000 1 2017 2017