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: rs1064797092
1.000 0.200 14 58645879 stop gained G/A snv 4.0E-06
CUI: C0265246
Disease: Townes syndrome
Townes syndrome
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Nervous System Diseases; Otorhinolaryngologic Diseases 0.010 1.000 1 2017 2017