Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs779003155
rs779003155
EBF3
0.800 GeneticVariation UNIPROT Mutations in EBF3 Disturb Transcriptional Profiles and Cause Intellectual Disability, Ataxia, and Facial Dysmorphism. 28017373

2017
dbSNP: rs779003155
rs779003155
EBF3
0.800 GeneticVariation UNIPROT A Syndromic Neurodevelopmental Disorder Caused by De Novo Variants in EBF3. 28017372

2017
dbSNP: rs779003155
rs779003155
EBF3
0.800 GeneticVariation UNIPROT De Novo Mutations in EBF3 Cause a Neurodevelopmental Syndrome. 28017370

2017
dbSNP: rs869312668
rs869312668
EBF3
0.800 GeneticVariation UNIPROT De Novo Mutations in EBF3 Cause a Neurodevelopmental Syndrome. 28017370

2017
dbSNP: rs869312668
rs869312668
EBF3
0.800 GeneticVariation UNIPROT Mutations in EBF3 Disturb Transcriptional Profiles and Cause Intellectual Disability, Ataxia, and Facial Dysmorphism. 28017373

2017
dbSNP: rs869312668
rs869312668
EBF3
0.800 GeneticVariation UNIPROT A Syndromic Neurodevelopmental Disorder Caused by De Novo Variants in EBF3. 28017372

2017
dbSNP: rs1057519389
rs1057519389
EBF3
A 0.800 CausalMutation CLINVAR

dbSNP: rs1057519389
rs1057519389
EBF3
G 0.800 CausalMutation CLINVAR

dbSNP: rs1057519389
rs1057519389
EBF3
T 0.800 CausalMutation CLINVAR

dbSNP: rs1057519389
rs1057519389
EBF3
0.800 GeneticVariation UNIPROT

dbSNP: rs1057519518
rs1057519518
EBF3
0.800 GeneticVariation UNIPROT

dbSNP: rs1057519518
rs1057519518
EBF3
C 0.800 CausalMutation CLINVAR

dbSNP: rs1057519519
rs1057519519
EBF3
C 0.800 CausalMutation CLINVAR

dbSNP: rs1057519519
rs1057519519
EBF3
0.800 GeneticVariation UNIPROT

dbSNP: rs1057519520
rs1057519520
EBF3
0.800 GeneticVariation UNIPROT

dbSNP: rs1057519520
rs1057519520
EBF3
A 0.800 CausalMutation CLINVAR

dbSNP: rs779003155
rs779003155
EBF3
A 0.800 CausalMutation CLINVAR

dbSNP: rs869312668
rs869312668
EBF3
A 0.800 CausalMutation CLINVAR

dbSNP: rs1057519437
rs1057519437
EBF3
0.700 GeneticVariation UNIPROT

dbSNP: rs1057519521
rs1057519521
EBF3
T 0.700 CausalMutation CLINVAR

dbSNP: rs1057519522
rs1057519522
EBF3
A 0.700 CausalMutation CLINVAR

dbSNP: rs1554904330
rs1554904330
EBF3
T 0.700 CausalMutation CLINVAR

dbSNP: rs1554934855
rs1554934855
EBF3
T 0.700 GeneticVariation CLINVAR

dbSNP: rs1564927062
rs1564927062
EBF3
AG 0.700 GeneticVariation CLINVAR