Disease: Caudal Regression 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: rs121918218
rs121918218 		0.925 0.160 1 115664171 missense variant G/A snv 5.2E-05 6.3E-05
CUI: C0300948
Disease: Caudal Regression Syndrome
Caudal Regression Syndrome 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases 0.700 0