Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs886041001
rs886041001
ERF
0.810 GeneticVariation BEFREE Molecular analysis provides further evidence that Chitayat syndrome is caused by the recurrent p.(Tyr89Cys) pathogenic variant in the ERF gene. 30569521

2019

dbSNP: rs886041001
rs886041001
ERF
C 0.810 CausalMutation CLINVAR

dbSNP: rs886041001
rs886041001
ERF
0.810 GeneticVariation UNIPROT

dbSNP: rs587777006
rs587777006
ERF
A 0.700 CausalMutation CLINVAR