NOG, noggin, 9241

N. diseases: 206; N. variants: 17
Disease: BRACHYDACTYLY, TYPE B2 (disorder) ×
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: rs121908949
rs121908949 		1.000 0.080 17 56594722 missense variant C/G snv
CUI: C1969652
Disease: BRACHYDACTYLY, TYPE B2 (disorder)
BRACHYDACTYLY, TYPE B2 (disorder) 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.810 1.000 2 2007 2014
dbSNP: rs28937580
rs28937580 		0.851 0.080 17 56594326 missense variant C/G;T snv
CUI: C1969652
Disease: BRACHYDACTYLY, TYPE B2 (disorder)
BRACHYDACTYLY, TYPE B2 (disorder) 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.800 1.000 1 2007 2007