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: rs534391501
rs534391501
0.925 0.200 1 24334661 missense variant G/A snv 3.1E-04 1.7E-04
CUI: C0175697
Disease: Van der Woude syndrome
Van der Woude syndrome
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Musculoskeletal Diseases; Stomatognathic Diseases 0.010 1.000 1 2017 2017