NOG, noggin, 9241

N. diseases: 206; N. variants: 17
Source: ALL
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: rs387906844
rs387906844
1.000 0.080 17 56594919 missense variant C/G;T snv 1.1E-05
CUI: C0342282
Disease: Multiple synostoses syndrome 1
Multiple synostoses syndrome 1
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.800 1.000 2 1999 2010