Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs776679653
rs776679653
ISCA1
CUI: C4551563
Disease: Microcephaly (physical finding)
Microcephaly (physical finding) 		T 0.700 CausalMutation CLINVAR Homozygous p.(Glu87Lys) variant in ISCA1 is associated with a multiple mitochondrial dysfunctions syndrome. 28356563

2017