Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs587777204
rs587777204
Entrez Id: 9775
Gene Symbol: EIF4A3
EIF4A3
CUI: C1849348
Disease:
Richieri Costa Pereira syndrome
0.800 GeneticVariation UNIPROT A noncoding expansion in EIF4A3 causes Richieri-Costa-Pereira syndrome, a craniofacial disorder associated with limb defects. 24360810 2014
dbSNP: rs587777204
rs587777204
Entrez Id: 9775
Gene Symbol: EIF4A3
EIF4A3
CUI: C1849348
Disease:
Richieri Costa Pereira syndrome
C 0.800 CausalMutation CLINVAR
dbSNP: rs2361710
rs2361710
Entrez Id: 9775
Gene Symbol: EIF4A3
EIF4A3
CUI: C0206161
Disease:
Reticulocyte count (procedure)
C 0.700 GeneticVariation GWASCAT The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. 27863252 2016