Disease: Sacral defect and anterior sacral meningocele ×
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: rs121918218
rs121918218 		0.925 0.160 1 115664171 missense variant G/A snv 5.2E-05 6.3E-05
CUI: C1838568
Disease: Sacral defect and anterior sacral meningocele
Sacral defect and anterior sacral meningocele 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 1.000 1 2007 2007