ERF, ETS2 repressor factor, 2077

N. diseases: 131; N. variants: 15
Disease: CHITAYAT SYNDROME ×
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: rs886041001
rs886041001 		1.000 19 42249934 missense variant T/C snv
CUI: C4310679
Disease: CHITAYAT SYNDROME
CHITAYAT SYNDROME 		0.810 1.000 1 2019 2019
dbSNP: rs587777006
rs587777006 		0.882 0.080 19 42249565 stop gained G/A;C snv 4.0E-06
CUI: C4310679
Disease: CHITAYAT SYNDROME
CHITAYAT SYNDROME 		0.700 0