EMX2, empty spiracles homeobox 2, 2018

N. diseases: 59; N. variants: 2
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: rs1411887961
rs1411887961 		1.000 0.080 10 117545628 splice region variant G/A;T snv
CUI: C0266484
Disease: Schizencephaly
Schizencephaly 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 0
dbSNP: rs1564751655
rs1564751655 		1.000 0.080 10 117545631 splice acceptor variant G/A snv
CUI: C0266484
Disease: Schizencephaly
Schizencephaly 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 0