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: rs864309486
rs864309486
0.763 0.320 6 24777262 stop gained A/T snv
CUI: C0152423
Disease: Congenital small ears
Congenital small ears
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Otorhinolaryngologic Diseases 0.700 1.000 1 2015 2015
dbSNP: rs864309487
rs864309487
0.763 0.280 6 24777279 frameshift variant TCAA/- delins
CUI: C0152423
Disease: Congenital small ears
Congenital small ears
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Otorhinolaryngologic Diseases 0.700 1.000 1 2015 2015