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: rs1555639411
rs1555639411
0.790 0.360 17 67894102 frameshift variant -/G delins
CUI: C0008297
Disease: Choanal Atresia
Choanal Atresia
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Respiratory Tract Diseases; Otorhinolaryngologic Diseases 0.700 1.000 1 2017 2017