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: rs875989823
rs875989823
1.000 0.120 11 65551971 splice donor variant C/A snv 4.0E-06
CUI: C1832594
Disease: Verloes Bourguignon syndrome
Verloes Bourguignon syndrome
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic Diseases 0.700 0