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: rs140047318
0.882 0.080 4 95152757 missense variant G/A;C;T snv 1.6E-05; 4.0E-06
CUI: C0221357
Disease: Brachydactyly
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.010 1.000 1 2015 2015