L1CAM, L1 cell adhesion molecule, 3897

N. diseases: 289; N. variants: 35
Disease: CORPUS CALLOSUM, PARTIAL AGENESIS OF, X-LINKED ×
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: rs137852526
rs137852526 		0.925 0.120 X 153870475 missense variant G/A snv
CUI: C1839909
Disease: CORPUS CALLOSUM, PARTIAL AGENESIS OF, X-LINKED
CORPUS CALLOSUM, PARTIAL AGENESIS OF, X-LINKED 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.800 1.000 1 2006 2006
dbSNP: rs797045673
rs797045673 		0.925 0.120 X 153866802 stop gained G/A snv
CUI: C1839909
Disease: CORPUS CALLOSUM, PARTIAL AGENESIS OF, X-LINKED
CORPUS CALLOSUM, PARTIAL AGENESIS OF, X-LINKED 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 0