SHOX, short stature homeobox, 6473

N. diseases: 138; N. variants: 16
Disease: Langer Mesomelic Dysplasia Syndrome ×
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: rs137852557
rs137852557 		0.925 0.120 Y 640836 missense variant C/T snv
CUI: C0432230
Disease: Langer Mesomelic Dysplasia Syndrome
Langer Mesomelic Dysplasia Syndrome 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.800 1.000 1 2002 2002
dbSNP: rs397514461
rs397514461 		0.827 0.200 Y 640842 missense variant G/C snv
CUI: C0432230
Disease: Langer Mesomelic Dysplasia Syndrome
Langer Mesomelic Dysplasia Syndrome 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.710 1.000 1 2011 2011
dbSNP: rs137852556
rs137852556 		0.925 0.120 Y 640851 missense variant C/T snv
CUI: C0432230
Disease: Langer Mesomelic Dysplasia Syndrome
Langer Mesomelic Dysplasia Syndrome 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.010 1.000 1 2004 2004