Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs786204848
rs786204848
Entrez Id: 23586
Gene Symbol: DDX58
DDX58
CUI: C4225380
Disease:
SINGLETON-MERTEN SYNDROME 2
0.800 GeneticVariation UNIPROT
dbSNP: rs786204848
rs786204848
Entrez Id: 23586
Gene Symbol: DDX58
DDX58
CUI: C4225380
Disease:
SINGLETON-MERTEN SYNDROME 2
A 0.800 CausalMutation CLINVAR