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: rs863225041
0.925 0.080 4 95114733 missense variant T/C snv
CUI: C0265260
Disease: Chondrodysplasia, Grebe type
Chondrodysplasia, Grebe type
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.010 1.000 1 2015 2015