rs267606826, FOXG1

N. diseases: 38
Source: ALL
Disease N. SNPs d DSI v DPI v Chr Position Consequence Alleles Class AFEXOME AFGENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
Abnormality of the optic nerve
CUI: C0029131
Disease: Abnormality of the optic nerve
11 0.708 0.520 14 28767903 stop gained C/A;G;T snv 0.700 0
Proportionate short stature
CUI: C0878660
Disease: Proportionate short stature
11 0.708 0.520 14 28767903 stop gained C/A;G;T snv 0.700 0
Abnormal corpus callosum morphology
CUI: C1842581
Disease: Abnormal corpus callosum morphology
10 0.708 0.520 14 28767903 stop gained C/A;G;T snv 0.700 0
Aplasia/Hypoplasia of the corpus callosum
CUI: C1861866
Disease: Aplasia/Hypoplasia of the corpus callosum
8 0.708 0.520 14 28767903 stop gained C/A;G;T snv 0.700 0
Mild short stature
CUI: C3150077
Disease: Mild short stature
8 0.708 0.520 14 28767903 stop gained C/A;G;T snv 0.700 0
Partial or complete agenesis of corpus callosum
CUI: C1857278
Disease: Partial or complete agenesis of corpus callosum
6 0.708 0.520 14 28767903 stop gained C/A;G;T snv 0.700 0
Protruding ear
CUI: C1855285
Disease: Protruding ear
6 0.708 0.520 14 28767903 stop gained C/A;G;T snv 0.700 0
Abnormal CNS myelination
CUI: C4021152
Disease: Abnormal CNS myelination
4 0.708 0.520 14 28767903 stop gained C/A;G;T snv 0.700 0
Delayed CNS myelination
CUI: C4021758
Disease: Delayed CNS myelination
4 0.708 0.520 14 28767903 stop gained C/A;G;T snv 0.700 0
Aplasia/Hypoplasia involving the central nervous system
CUI: C4025665
Disease: Aplasia/Hypoplasia involving the central nervous system
1 0.708 0.520 14 28767903 stop gained C/A;G;T snv 0.700 0
Congenital phimosis
CUI: C0345326
Disease: Congenital phimosis
1 0.708 0.520 14 28767903 stop gained C/A;G;T snv 0.700 0
Flaring of rib cage
CUI: C1854780
Disease: Flaring of rib cage
1 0.708 0.520 14 28767903 stop gained C/A;G;T snv 0.700 0
Infra-orbital crease
CUI: C1857280
Disease: Infra-orbital crease
1 0.708 0.520 14 28767903 stop gained C/A;G;T snv 0.700 0