MCPH1, microcephalin 1, 79648

N. diseases: 141; N. variants: 44
Disease: Autosomal Recessive Primary Microcephaly ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs199422125
rs199422125
Entrez Id: 79648
Gene Symbol: MCPH1
MCPH1
CUI: C3711387
Disease:
Autosomal Recessive Primary Microcephaly 		CA 0.700 CausalMutation CLINVAR