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.
Microcephaly, Primary Autosomal Recessive, 6
11 0.882 0.120 13 24884083 missense variant T/A snv 4.0E-06 0.800 1.000 2 2005 2011
Autosomal Recessive Primary Microcephaly
99 0.882 0.120 13 24884083 missense variant T/A snv 4.0E-06 0.700 0
Primary microcephaly
CUI: C0431350
Disease: Primary microcephaly
9 0.882 0.120 13 24884083 missense variant T/A snv 4.0E-06 0.010 1.000 1 2011 2011