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: rs1554571213
rs1554571213
0.925 0.080 8 96144601 missense variant A/T snv
CUI: C0039093
Disease: Congenital abnormal Synostosis
Congenital abnormal Synostosis
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.010 1.000 1 2016 2016