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: rs104894615
rs104894615
0.925 0.080 17 56594838 missense variant G/C snv
CUI: C3714899
Disease: SYMPHALANGISM, PROXIMAL, 1A
SYMPHALANGISM, PROXIMAL, 1A
Musculoskeletal Diseases 0.700 1.000 4 1999 2005