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: rs786205745
rs786205745
0.807 0.320 12 2504538 missense variant G/A;C snv
CUI: C0039075
Disease: Syndactyly
Syndactyly
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.010 1.000 1 2013 2013
dbSNP: rs79891110
rs79891110
0.807 0.320 12 2504944 stop gained G/A;T snv
CUI: C0039075
Disease: Syndactyly
Syndactyly
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.010 1.000 1 2013 2013