MCPH1, microcephalin 1, 79648

N. diseases: 141; N. variants: 44
Disease: MICROCEPHALY, PRIMARY AUTOSOMAL RECESSIVE, 1 ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1488084787
rs1488084787
Entrez Id: 79648
Gene Symbol: MCPH1
MCPH1
CUI: C1855081
Disease:
MICROCEPHALY, PRIMARY AUTOSOMAL RECESSIVE, 1 		G 0.700 CausalMutation CLINVAR