rs587777036, PHC1

N. diseases: 3
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 11, PRIMARY, AUTOSOMAL RECESSIVE
CUI: C3809431
Disease: MICROCEPHALY 11, PRIMARY, AUTOSOMAL RECESSIVE
1 0.925 0.120 12 8939418 missense variant C/T snv 0.800 1.000 1 2013 2013
Poor school performance
CUI: C1843367
Disease: Poor school performance
411 0.925 0.120 12 8939418 missense variant C/T snv 0.700 0
Primary microcephaly
CUI: C0431350
Disease: Primary microcephaly
9 0.925 0.120 12 8939418 missense variant C/T snv 0.700 0