Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1553253989
rs1553253989
SLC25A24
0.810 GeneticVariation BEFREE A rare male patient with Fontaine progeroid syndrome caused by p.R217H de novo mutation in SLC25A24. 30329211

2018
dbSNP: rs1553253989
rs1553253989
SLC25A24
0.810 GeneticVariation UNIPROT De Novo Mutations in SLC25A24 Cause a Craniosynostosis Syndrome with Hypertrichosis, Progeroid Appearance, and Mitochondrial Dysfunction. 29100093

2017
dbSNP: rs1553253989
rs1553253989
SLC25A24
T 0.810 CausalMutation CLINVAR