NOG, noggin, 9241

N. diseases: 206; N. variants: 17
Disease: BRACHYDACTYLY, TYPE B1 ×
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: rs199566527
rs199566527 		0.882 0.080 17 56594498 missense variant G/A snv 1.7E-03 1.7E-03
CUI: C1862112
Disease: BRACHYDACTYLY, TYPE B1
BRACHYDACTYLY, TYPE B1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.010 1.000 1 2012 2012
dbSNP: rs28937580
rs28937580 		0.851 0.080 17 56594326 missense variant C/G;T snv
CUI: C1862112
Disease: BRACHYDACTYLY, TYPE B1
BRACHYDACTYLY, TYPE B1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.010 1.000 1 2008 2008