CENPE, centromere protein E, 1062

N. diseases: 78; N. variants: 5
Disease: MICROCEPHALY 13, PRIMARY, AUTOSOMAL RECESSIVE ×
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: rs141488085
rs141488085 		1.000 4 103147427 missense variant T/C snv 3.3E-04 3.3E-04
CUI: C4015080
Disease: MICROCEPHALY 13, PRIMARY, AUTOSOMAL RECESSIVE
MICROCEPHALY 13, PRIMARY, AUTOSOMAL RECESSIVE 		0.800 1.000 1 2014 2014
dbSNP: rs144716013
rs144716013 		1.000 4 103158691 missense variant C/A;T snv 4.4E-04; 1.3E-04
CUI: C4015080
Disease: MICROCEPHALY 13, PRIMARY, AUTOSOMAL RECESSIVE
MICROCEPHALY 13, PRIMARY, AUTOSOMAL RECESSIVE 		0.800 1.000 1 2014 2014