TFAP2B, transcription factor AP-2 beta, 7021

N. diseases: 128; N. variants: 23
Disease: CHAR 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: rs80338915
rs80338915 		1.000 0.080 6 50838007 missense variant G/A snv
CUI: C1868570
Disease: CHAR SYNDROME
CHAR SYNDROME 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases 0.800 1.000 4 2000 2018
dbSNP: rs80338910
rs80338910 		1.000 0.080 6 50823543 missense variant C/G snv
CUI: C1868570
Disease: CHAR SYNDROME
CHAR SYNDROME 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases 0.800 1.000 3 2000 2005
dbSNP: rs80338912
rs80338912 		1.000 0.080 6 50836165 missense variant C/A;T snv
CUI: C1868570
Disease: CHAR SYNDROME
CHAR SYNDROME 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases 0.800 1.000 3 2000 2005
dbSNP: rs80338914
rs80338914 		1.000 0.080 6 50837977 missense variant C/A snv
CUI: C1868570
Disease: CHAR SYNDROME
CHAR SYNDROME 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases 0.800 1.000 3 2000 2005
dbSNP: rs80338917
rs80338917 		1.000 0.080 6 50838051 missense variant C/T snv
CUI: C1868570
Disease: CHAR SYNDROME
CHAR SYNDROME 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases 0.800 1.000 3 2000 2005
dbSNP: rs1232197674
rs1232197674 		0.827 0.240 6 50838070 missense variant C/T snv 4.0E-06 1.4E-05
CUI: C1868570
Disease: CHAR SYNDROME
CHAR SYNDROME 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases 0.700 0
dbSNP: rs1561964103
rs1561964103 		0.882 0.080 6 50836108 frameshift variant G/- delins
CUI: C1868570
Disease: CHAR SYNDROME
CHAR SYNDROME 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases 0.700 0
dbSNP: rs80338911
rs80338911 		0.925 0.080 6 50828684 splice region variant G/A snv
CUI: C1868570
Disease: CHAR SYNDROME
CHAR SYNDROME 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases 0.700 0
dbSNP: rs80338916
rs80338916 		1.000 0.080 6 50837974 splice acceptor variant G/C snv
CUI: C1868570
Disease: CHAR SYNDROME
CHAR SYNDROME 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases 0.700 0