rs199422124, MCPH1

N. diseases: 2
Source: ALL
Disease N. SNPs d DSI v DPI v Chr Position Consequence Alleles Class AFEXOME AFGENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
Autosomal Recessive Primary Microcephaly
99 0.925 0.120 8 6409336 missense variant C/G;T snv 4.0E-06 0.700 0
Microcephaly
CUI: C0025958
Disease: Microcephaly
27 0.925 0.120 8 6409336 missense variant C/G;T snv 4.0E-06 0.010 1.000 1 2019 2019