ERF, ETS2 repressor factor, 2077

N. diseases: 131; N. variants: 15
Disease: CRANIOSYNOSTOSIS 4 ×
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: rs587777008
rs587777008 		1.000 19 42250332 missense variant G/A snv
CUI: C3806917
Disease: CRANIOSYNOSTOSIS 4
CRANIOSYNOSTOSIS 4 		0.800 1.000 1 2013 2013
dbSNP: rs587777009
rs587777009 		1.000 19 42250394 missense variant C/A;T snv
CUI: C3806917
Disease: CRANIOSYNOSTOSIS 4
CRANIOSYNOSTOSIS 4 		0.800 1.000 1 2013 2013
dbSNP: rs587777006
rs587777006 		0.882 0.080 19 42249565 stop gained G/A;C snv 4.0E-06
CUI: C3806917
Disease: CRANIOSYNOSTOSIS 4
CRANIOSYNOSTOSIS 4 		0.700 0
dbSNP: rs587777007
rs587777007 		0.925 0.080 19 42249220 frameshift variant CT/- del
CUI: C3806917
Disease: CRANIOSYNOSTOSIS 4
CRANIOSYNOSTOSIS 4 		0.700 0
dbSNP: rs587777010
rs587777010 		1.000 19 42248842 stop gained G/A snv
CUI: C3806917
Disease: CRANIOSYNOSTOSIS 4
CRANIOSYNOSTOSIS 4 		0.700 0
dbSNP: rs864321680
rs864321680 		1.000 19 42250567 splice acceptor variant T/C snv 4.0E-06
CUI: C3806917
Disease: CRANIOSYNOSTOSIS 4
CRANIOSYNOSTOSIS 4 		0.700 0
dbSNP: rs864321681
rs864321681 		1.000 19 42254999 start lost T/C snv
CUI: C3806917
Disease: CRANIOSYNOSTOSIS 4
CRANIOSYNOSTOSIS 4 		0.700 0