NRXN3, neurexin 3, 9369

N. diseases: 64; N. variants: 29
Disease: Relative macrocephaly ×
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: rs1057519451
rs1057519451 		1.000 0.120 14 78709310 missense variant A/G snv 1.4E-05
CUI: C1849075
Disease: Relative macrocephaly
Relative macrocephaly 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases 0.700 0
dbSNP: rs531047390
rs531047390 		1.000 0.120 14 78968349 splice region variant A/G snv 2.0E-04 2.1E-05
CUI: C1849075
Disease: Relative macrocephaly
Relative macrocephaly 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases 0.700 0