rs199422124, MCPH1

N. diseases: 2
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Autosomal Recessive Primary Microcephaly
CUI: C3711387
Disease: Autosomal Recessive Primary Microcephaly
0.700 CausalMutation CLINVAR
Microcephaly
CUI: C0025958
Disease: Microcephaly
0.010 GeneticVariation BEFREE A second MCPH1 BRCT1 domain variant (rs199422124C>G; p.Thr27Arg), reported to cause autosomal recessive microcephaly, was not detected in the participants tested here. 30859703 2019