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: rs121908155
rs121908155 		1.000 0.080 1 155139987 stop gained A/G;T snv 4.0E-06
CUI: C2752007
Disease: Congenital Disorder of Glycosylation, Type Io
Congenital Disorder of Glycosylation, Type Io 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.800 1.000 1 2009 2009
dbSNP: rs1057518905
rs1057518905 		1 155140104 missense variant A/T snv
CUI: C4021726
Disease: EMG: myopathic abnormalities
EMG: myopathic abnormalities 		Musculoskeletal Diseases; Nervous System Diseases 0.700 0
dbSNP: rs1057518905
rs1057518905 		1 155140104 missense variant A/T snv
CUI: C0878544
Disease: Cardiomyopathies
Cardiomyopathies 		Cardiovascular Diseases 0.700 0
dbSNP: rs1057518905
rs1057518905 		1 155140104 missense variant A/T snv
CUI: C0026848
Disease: Myopathy
Myopathy 		Musculoskeletal Diseases; Nervous System Diseases 0.700 0