HBS1L, HBS1 like translational GTPase, 10767

N. diseases: 49; N. variants: 124
Disease: Ethylmalonic encephalopathy ×
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: rs9399137
rs9399137 		0.851 0.320 6 135097880 intron variant T/C snv 0.20
CUI: C1865349
Disease: Ethylmalonic encephalopathy
Ethylmalonic encephalopathy 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases; Hemic and Lymphatic Diseases 0.010 1.000 1 2015 2015