FOXG1, forkhead box G1, 2290

N. diseases: 224; N. variants: 51
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: rs1555321367
rs1555321367
1.000 14 28768138 stop gained A/T snv
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features
0.700 1.000 15 1989 2017
dbSNP: rs1555321405
rs1555321405
1.000 14 28768359 frameshift variant -/G delins
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features
0.700 1.000 15 1989 2017
dbSNP: rs796052462
rs796052462
1.000 14 28767840 missense variant C/A;G snv
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features
0.700 1.000 15 1989 2017