Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1555321367
rs1555321367
T 0.700 CausalMutation CLINVAR RettBASE: Rett syndrome database update. 28544139

2017

dbSNP: rs1555321405
rs1555321405
CG 0.700 CausalMutation CLINVAR RettBASE: Rett syndrome database update. 28544139

2017

dbSNP: rs796052462
rs796052462
G 0.700 CausalMutation CLINVAR RettBASE: Rett syndrome database update. 28544139

2017

dbSNP: rs1555321367
rs1555321367
T 0.700 CausalMutation CLINVAR Visual impairment in FOXG1-mutated individuals and mice. 27001178

2016

dbSNP: rs1555321367
rs1555321367
T 0.700 CausalMutation CLINVAR The hyperkinetic movement disorder of FOXG1-related epileptic-dyskinetic encephalopathy. 26344814

2016

dbSNP: rs1555321367
rs1555321367
T 0.700 CausalMutation CLINVAR Delineation of the movement disorders associated with FOXG1 mutations. 27029630

2016

dbSNP: rs1555321367
rs1555321367
T 0.700 CausalMutation CLINVAR Phenotype Differentiation of FOXG1 and MECP2 Disorders: A New Method for Characterization of Developmental Encephalopathies. 27640358

2016

dbSNP: rs1555321405
rs1555321405
CG 0.700 CausalMutation CLINVAR Phenotype Differentiation of FOXG1 and MECP2 Disorders: A New Method for Characterization of Developmental Encephalopathies. 27640358

2016

dbSNP: rs1555321405
rs1555321405
CG 0.700 CausalMutation CLINVAR The hyperkinetic movement disorder of FOXG1-related epileptic-dyskinetic encephalopathy. 26344814

2016

dbSNP: rs1555321405
rs1555321405
CG 0.700 CausalMutation CLINVAR Delineation of the movement disorders associated with FOXG1 mutations. 27029630

2016

dbSNP: rs1555321405
rs1555321405
CG 0.700 CausalMutation CLINVAR Visual impairment in FOXG1-mutated individuals and mice. 27001178

2016

dbSNP: rs796052462
rs796052462
G 0.700 CausalMutation CLINVAR Delineation of the movement disorders associated with FOXG1 mutations. 27029630

2016

dbSNP: rs796052462
rs796052462
G 0.700 CausalMutation CLINVAR Visual impairment in FOXG1-mutated individuals and mice. 27001178

2016

dbSNP: rs796052462
rs796052462
G 0.700 CausalMutation CLINVAR Phenotype Differentiation of FOXG1 and MECP2 Disorders: A New Method for Characterization of Developmental Encephalopathies. 27640358

2016

dbSNP: rs796052462
rs796052462
G 0.700 CausalMutation CLINVAR The hyperkinetic movement disorder of FOXG1-related epileptic-dyskinetic encephalopathy. 26344814

2016

dbSNP: rs1555321367
rs1555321367
T 0.700 CausalMutation CLINVAR Familial recurrences of FOXG1-related disorder: Evidence for mosaicism. 26364767

2015

dbSNP: rs1555321367
rs1555321367
T 0.700 CausalMutation CLINVAR Forkhead box G1 gene haploinsufficiency: an emerging cause of dyskinetic encephalopathy of infancy. 25565401

2015

dbSNP: rs1555321405
rs1555321405
CG 0.700 CausalMutation CLINVAR Familial recurrences of FOXG1-related disorder: Evidence for mosaicism. 26364767

2015

dbSNP: rs1555321405
rs1555321405
CG 0.700 CausalMutation CLINVAR Forkhead box G1 gene haploinsufficiency: an emerging cause of dyskinetic encephalopathy of infancy. 25565401

2015

dbSNP: rs796052462
rs796052462
G 0.700 CausalMutation CLINVAR Forkhead box G1 gene haploinsufficiency: an emerging cause of dyskinetic encephalopathy of infancy. 25565401

2015

dbSNP: rs796052462
rs796052462
G 0.700 CausalMutation CLINVAR Familial recurrences of FOXG1-related disorder: Evidence for mosaicism. 26364767

2015

dbSNP: rs1555321367
rs1555321367
T 0.700 CausalMutation CLINVAR Somatic mosaicism for a FOXG1 mutation: diagnostic implication. 24766421

2014

dbSNP: rs1555321367
rs1555321367
T 0.700 CausalMutation CLINVAR Epilepsy and outcome in FOXG1-related disorders. 24836831

2014

dbSNP: rs1555321405
rs1555321405
CG 0.700 CausalMutation CLINVAR Epilepsy and outcome in FOXG1-related disorders. 24836831

2014

dbSNP: rs1555321405
rs1555321405
CG 0.700 CausalMutation CLINVAR Somatic mosaicism for a FOXG1 mutation: diagnostic implication. 24766421

2014