MCPH1, microcephalin 1, 79648

N. diseases: 141; N. variants: 44
Disease: MICROCEPHALY, PRIMARY AUTOSOMAL RECESSIVE, 1 ×
Source: ALL
Variant DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Disease Class Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs387906961
rs387906961 		1.000 0.120 8 6414865 missense variant C/T snv 8.0E-06 1.4E-05
CUI: C1855081
Disease: MICROCEPHALY, PRIMARY AUTOSOMAL RECESSIVE, 1
MICROCEPHALY, PRIMARY AUTOSOMAL RECESSIVE, 1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases 0.700 0