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: rs1569355102
rs1569355102
0.695 0.360 21 37472869 frameshift variant TAAC/- delins
CUI: C0152423
Disease: Congenital small ears
Congenital small ears
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Otorhinolaryngologic Diseases 0.700 0