Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1553253990
rs1553253990
Entrez Id: 29957
Gene Symbol: SLC25A24
SLC25A24
CUI: C2676780
Disease:
Progeroid Syndrome, Congenital, Petty Type
0.800 GeneticVariation UNIPROT De Novo Mutations in SLC25A24 Cause a Craniosynostosis Syndrome with Hypertrichosis, Progeroid Appearance, and Mitochondrial Dysfunction. 29100093 2017
dbSNP: rs1553253990
rs1553253990
Entrez Id: 29957
Gene Symbol: SLC25A24
SLC25A24
CUI: C2676780
Disease:
Progeroid Syndrome, Congenital, Petty Type
A 0.800 CausalMutation CLINVAR