Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs879255633
rs879255633
Entrez Id: 7353;8318
Gene Symbol: UFD1;CDC45
UFD1;CDC45
CUI: C4310738
Disease:
MEIER-GORLIN SYNDROME 7
0.800 GeneticVariation UNIPROT Mutations in CDC45, Encoding an Essential Component of the Pre-initiation Complex, Cause Meier-Gorlin Syndrome and Craniosynostosis. 27374770 2016
dbSNP: rs879255633
rs879255633
Entrez Id: 7353;8318
Gene Symbol: UFD1;CDC45
UFD1;CDC45
CUI: C4310738
Disease:
MEIER-GORLIN SYNDROME 7
G 0.800 GeneticVariation CLINVAR Mutations in CDC45, Encoding an Essential Component of the Pre-initiation Complex, Cause Meier-Gorlin Syndrome and Craniosynostosis. 27374770 2016
dbSNP: rs879255633
rs879255633
Entrez Id: 7353;8318
Gene Symbol: UFD1;CDC45
UFD1;CDC45
CUI: C4310738
Disease:
MEIER-GORLIN SYNDROME 7
G 0.800 CausalMutation CLINVAR