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: rs879255573
rs879255573
1.000 0.120 1 24339684 frameshift variant -/GT delins
CUI: C1847604
Disease: Van der Woude syndrome 2
Van der Woude syndrome 2
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic Diseases 0.700 0