Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs879255530
rs879255530
FOXG1
CUI: C3150705
Disease: FOXG1 syndrome
FOXG1 syndrome 		T 0.700 GeneticVariation CLINVAR

dbSNP: rs879255530
rs879255530
FOXG1
CUI: C0856975
Disease: Autistic behavior
Autistic behavior 		T 0.700 GeneticVariation CLINVAR

dbSNP: rs796052469
rs796052469
FOXG1
CUI: C3150705
Disease: FOXG1 syndrome
FOXG1 syndrome 		A 0.700 GeneticVariation CLINVAR

dbSNP: rs786205486
rs786205486
FOXG1
CUI: C3150705
Disease: FOXG1 syndrome
FOXG1 syndrome 		G 0.700 GeneticVariation CLINVAR

dbSNP: rs786204998
rs786204998
FOXG1
CUI: C3150705
Disease: FOXG1 syndrome
FOXG1 syndrome 		CT 0.700 GeneticVariation CLINVAR

dbSNP: rs767961672
rs767961672
FOXG1
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia 		T 0.700 GeneticVariation CLINVAR A prospective evaluation of whole-exome sequencing as a first-tier molecular test in infants with suspected monogenic disorders. 26938784

2016
dbSNP: rs767961672
rs767961672
FOXG1
CUI: C4551563
Disease: Microcephaly (physical finding)
Microcephaly (physical finding) 		T 0.700 GeneticVariation CLINVAR A prospective evaluation of whole-exome sequencing as a first-tier molecular test in infants with suspected monogenic disorders. 26938784

2016
dbSNP: rs767961672
rs767961672
FOXG1
CUI: C0026351
Disease: Moderate intellectual disability
Moderate intellectual disability 		T 0.700 GeneticVariation CLINVAR A prospective evaluation of whole-exome sequencing as a first-tier molecular test in infants with suspected monogenic disorders. 26938784

2016
dbSNP: rs767961672
rs767961672
FOXG1
CUI: C3150705
Disease: FOXG1 syndrome
FOXG1 syndrome 		T 0.700 GeneticVariation CLINVAR A prospective evaluation of whole-exome sequencing as a first-tier molecular test in infants with suspected monogenic disorders. 26938784

2016
dbSNP: rs727503935
rs727503935
FOXG1
CUI: C3150705
Disease: FOXG1 syndrome
FOXG1 syndrome 		A 0.700 GeneticVariation CLINVAR

dbSNP: rs587783643
rs587783643
FOXG1
CUI: C3150705
Disease: FOXG1 syndrome
FOXG1 syndrome 		A 0.700 GeneticVariation CLINVAR

dbSNP: rs587783640
rs587783640
FOXG1
CUI: C3150705
Disease: FOXG1 syndrome
FOXG1 syndrome 		T 0.700 GeneticVariation CLINVAR

dbSNP: rs398124202
rs398124202
FOXG1
CUI: C3150705
Disease: FOXG1 syndrome
FOXG1 syndrome 		T 0.700 GeneticVariation CLINVAR

dbSNP: rs1566445533
rs1566445533
FOXG1
CUI: C3150705
Disease: FOXG1 syndrome
FOXG1 syndrome 		A 0.700 GeneticVariation CLINVAR

dbSNP: rs1566445489
rs1566445489
FOXG1
CUI: C3150705
Disease: FOXG1 syndrome
FOXG1 syndrome 		T 0.700 GeneticVariation CLINVAR

dbSNP: rs1555321402
rs1555321402
FOXG1
CUI: C0036857
Disease: Severe intellectual disability
Severe intellectual disability 		C 0.700 GeneticVariation CLINVAR

dbSNP: rs1555321402
rs1555321402
FOXG1
CUI: C2677180
Disease: Congenital microcephaly
Congenital microcephaly 		C 0.700 GeneticVariation CLINVAR

dbSNP: rs1555321402
rs1555321402
FOXG1
CUI: C1861866
Disease: Aplasia/Hypoplasia of the corpus callosum
Aplasia/Hypoplasia of the corpus callosum 		C 0.700 GeneticVariation CLINVAR

dbSNP: rs1555321361
rs1555321361
FOXG1
CUI: C3150705
Disease: FOXG1 syndrome
FOXG1 syndrome 		C 0.700 GeneticVariation CLINVAR

dbSNP: rs1555321351
rs1555321351
FOXG1
CUI: C3150705
Disease: FOXG1 syndrome
FOXG1 syndrome 		A 0.700 GeneticVariation CLINVAR

dbSNP: rs1555321337
rs1555321337
FOXG1
CUI: C3150705
Disease: FOXG1 syndrome
FOXG1 syndrome 		A 0.700 GeneticVariation CLINVAR

dbSNP: rs1064797186
rs1064797186
FOXG1
CUI: C3150705
Disease: FOXG1 syndrome
FOXG1 syndrome 		C 0.700 GeneticVariation CLINVAR

dbSNP: rs1057516138
rs1057516138
FOXG1
CUI: C3150705
Disease: FOXG1 syndrome
FOXG1 syndrome 		T 0.700 GeneticVariation CLINVAR

dbSNP: rs786205009
rs786205009
FOXG1
CUI: C3150705
Disease: FOXG1 syndrome
FOXG1 syndrome 		T 0.800 CausalMutation CLINVAR A missense mutation within the fork-head domain of the forkhead box G1 Gene (FOXG1) affects its nuclear localization. 21280142

2011
dbSNP: rs786205009
rs786205009
FOXG1
CUI: C3150705
Disease: FOXG1 syndrome
FOXG1 syndrome 		T 0.800 CausalMutation CLINVAR The usefulness of whole-exome sequencing in routine clinical practice. 24901346

2014