Disease: Lucey-Driscoll syndrome (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: rs34993780
rs34993780 		0.827 0.120 2 233772413 missense variant T/A;C;G snv 2.2E-04
CUI: C0270210
Disease: Lucey-Driscoll syndrome (disorder)
Lucey-Driscoll syndrome (disorder) 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.800 1.000 1 2000 2000
dbSNP: rs4148323
rs4148323 		0.701 0.440 2 233760498 missense variant G/A snv 2.2E-02 9.2E-03
CUI: C0270210
Disease: Lucey-Driscoll syndrome (disorder)
Lucey-Driscoll syndrome (disorder) 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 1.000 1 2000 2000
dbSNP: rs34946978
rs34946978 		0.851 0.120 2 233768226 missense variant C/G;T snv 1.2E-03
CUI: C0270210
Disease: Lucey-Driscoll syndrome (disorder)
Lucey-Driscoll syndrome (disorder) 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 0
dbSNP: rs3755319
rs3755319 		0.925 0.120 2 233758936 intron variant A/C;G;T snv
CUI: C0270210
Disease: Lucey-Driscoll syndrome (disorder)
Lucey-Driscoll syndrome (disorder) 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 0