SHOX, short stature homeobox, 6473

N. diseases: 138; N. variants: 16
Disease: Madelung Deformity ×
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: rs397514461
rs397514461 		0.827 0.200 Y 640842 missense variant G/C snv
CUI: C0152441
Disease: Madelung Deformity
Madelung Deformity 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.020 1.000 2 2011 2012