SIX3, SIX homeobox 3, 6496

N. diseases: 117; N. variants: 14
Disease: Schizencephaly ×
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: rs387906868
rs387906868 		1.000 0.080 2 44942603 missense variant G/T snv 1.7E-05 2.8E-05
CUI: C0266484
Disease: Schizencephaly
Schizencephaly 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.800 1.000 1 2010 2010
dbSNP: rs387906867
rs387906867 		0.925 0.120 2 44942489 stop gained G/T snv
CUI: C0266484
Disease: Schizencephaly
Schizencephaly 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 0