CNTN4, contactin 4, 152330

N. diseases: 58; N. variants: 26
Disease: Optic Nerve Aplasia, Bilateral ×
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: rs1445392566
rs1445392566 		0.925 0.120 3 2745535 missense variant G/A snv 4.0E-06 7.0E-06
CUI: C1833798
Disease: Optic Nerve Aplasia, Bilateral
Optic Nerve Aplasia, Bilateral 		Eye Diseases; Nervous System Diseases 0.010 1.000 1 2012 2012