FOXG1, forkhead box G1, 2290

N. diseases: 224; N. variants: 51
Disease: FOXG1 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: rs267606828
rs267606828 		1.000 0.120 14 28767922 missense variant T/C snv
CUI: C3150705
Disease: FOXG1 syndrome
FOXG1 syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Mental Disorders 0.800 1.000 3 2010 2016
dbSNP: rs786205009
rs786205009 		1.000 0.120 14 28768009 missense variant C/T snv
CUI: C3150705
Disease: FOXG1 syndrome
FOXG1 syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Mental Disorders 0.800 1.000 3 2011 2014
dbSNP: rs398124204
rs398124204 		0.925 0.160 14 28767733 frameshift variant G/-;GG delins
CUI: C3150705
Disease: FOXG1 syndrome
FOXG1 syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Mental Disorders 0.700 1.000 6 2010 2017
dbSNP: rs1555321380
rs1555321380 		1.000 0.120 14 28768223 frameshift variant C/- delins
CUI: C3150705
Disease: FOXG1 syndrome
FOXG1 syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Mental Disorders 0.700 1.000 2 2008 2016
dbSNP: rs764343290
rs764343290 		1.000 0.120 14 28768302 stop gained C/G;T snv 4.0E-06
CUI: C3150705
Disease: FOXG1 syndrome
FOXG1 syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Mental Disorders 0.700 1.000 2 2010 2010
dbSNP: rs786205001
rs786205001 		1.000 0.120 14 28767529 frameshift variant C/-;CC delins
CUI: C3150705
Disease: FOXG1 syndrome
FOXG1 syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Mental Disorders 0.700 1.000 2 2012 2016
dbSNP: rs1555321206
rs1555321206 		1.000 0.120 14 28767449 frameshift variant -/GCCGCCCGCC delins
CUI: C3150705
Disease: FOXG1 syndrome
FOXG1 syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Mental Disorders 0.700 1.000 1 2014 2014
dbSNP: rs767961672
rs767961672 		0.925 0.200 14 28767822 missense variant G/A;T snv 4.0E-06
CUI: C3150705
Disease: FOXG1 syndrome
FOXG1 syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Mental Disorders 0.700 1.000 1 2016 2016
dbSNP: rs1057516138
rs1057516138 		1.000 0.120 14 28767833 missense variant G/C;T snv
CUI: C3150705
Disease: FOXG1 syndrome
FOXG1 syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Mental Disorders 0.700 0
dbSNP: rs1064797186
rs1064797186 		1.000 0.120 14 28767964 missense variant A/C snv
CUI: C3150705
Disease: FOXG1 syndrome
FOXG1 syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Mental Disorders 0.700 0
dbSNP: rs121913678
rs121913678 		1.000 0.120 14 28768044 stop gained G/A;T snv
CUI: C3150705
Disease: FOXG1 syndrome
FOXG1 syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Mental Disorders 0.700 0
dbSNP: rs138747073
rs138747073 		0.925 0.120 14 28768479 stop gained C/A;G;T snv 6.0E-05
CUI: C3150705
Disease: FOXG1 syndrome
FOXG1 syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Mental Disorders 0.700 0
dbSNP: rs1452295073
rs1452295073 		1.000 0.120 14 28767780 frameshift variant G/-;GG delins
CUI: C3150705
Disease: FOXG1 syndrome
FOXG1 syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Mental Disorders 0.700 0
dbSNP: rs1555321237
rs1555321237 		1.000 0.120 14 28767493 stop gained C/T snv
CUI: C3150705
Disease: FOXG1 syndrome
FOXG1 syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Mental Disorders 0.700 0
dbSNP: rs1555321294
rs1555321294 		1.000 0.120 14 28767779 frameshift variant A/- del
CUI: C3150705
Disease: FOXG1 syndrome
FOXG1 syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Mental Disorders 0.700 0
dbSNP: rs1555321337
rs1555321337 		1.000 0.120 14 28767992 missense variant G/A snv
CUI: C3150705
Disease: FOXG1 syndrome
FOXG1 syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Mental Disorders 0.700 0
dbSNP: rs1555321351
rs1555321351 		1.000 0.120 14 28768043 stop gained G/A snv
CUI: C3150705
Disease: FOXG1 syndrome
FOXG1 syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Mental Disorders 0.700 0
dbSNP: rs1555321361
rs1555321361 		1.000 0.120 14 28768103 missense variant G/C snv
CUI: C3150705
Disease: FOXG1 syndrome
FOXG1 syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Mental Disorders 0.700 0
dbSNP: rs1566445169
rs1566445169 		1.000 0.120 14 28767678 frameshift variant AGCTGGCGCCCGTCGGGCCGGACGAGAAGGAGAAGGGCGCCGGCGCCGGGGG/- delins
CUI: C3150705
Disease: FOXG1 syndrome
FOXG1 syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Mental Disorders 0.700 0
dbSNP: rs1566445489
rs1566445489 		1.000 0.120 14 28767982 missense variant C/T snv
CUI: C3150705
Disease: FOXG1 syndrome
FOXG1 syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Mental Disorders 0.700 0
dbSNP: rs1566445533
rs1566445533 		1.000 0.120 14 28768042 missense variant T/A snv
CUI: C3150705
Disease: FOXG1 syndrome
FOXG1 syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Mental Disorders 0.700 0
dbSNP: rs267606826
rs267606826 		0.708 0.520 14 28767903 stop gained C/A;G;T snv
CUI: C3150705
Disease: FOXG1 syndrome
FOXG1 syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Mental Disorders 0.700 0
dbSNP: rs267606827
rs267606827 		0.925 0.120 14 28768203 stop gained G/A snv
CUI: C3150705
Disease: FOXG1 syndrome
FOXG1 syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Mental Disorders 0.700 0
dbSNP: rs398124202
rs398124202 		1.000 0.120 14 28767535 stop gained C/A;G;T snv
CUI: C3150705
Disease: FOXG1 syndrome
FOXG1 syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Mental Disorders 0.700 0
dbSNP: rs587783629
rs587783629 		1.000 0.120 14 28767411 frameshift variant C/-;CC;CCC delins
CUI: C3150705
Disease: FOXG1 syndrome
FOXG1 syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Mental Disorders 0.700 0