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: rs267607016
rs267607016
0.882 0.120 9 91726603 stop gained G/A snv 4.0E-06 1.4E-05
CUI: C0221357
Disease: Brachydactyly
Brachydactyly
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.010 1.000 1 2009 2009