NOG, noggin, 9241

N. diseases: 206; N. variants: 17
Disease: STAPES ANKYLOSIS WITH BROAD THUMB AND TOES (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: rs28937580
rs28937580 		0.851 0.080 17 56594326 missense variant C/G;T snv
CUI: C1866656
Disease: STAPES ANKYLOSIS WITH BROAD THUMB AND TOES (disorder)
STAPES ANKYLOSIS WITH BROAD THUMB AND TOES (disorder) 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.710 1.000 1 2008 2008
dbSNP: rs104894614
rs104894614 		1.000 0.080 17 56594551 stop gained C/T snv
CUI: C1866656
Disease: STAPES ANKYLOSIS WITH BROAD THUMB AND TOES (disorder)
STAPES ANKYLOSIS WITH BROAD THUMB AND TOES (disorder) 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.700 0