Source: CLINVAR

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs587777036
rs587777036
PHC1
0.925 0.120 12 8939418 missense variant C/T snv
CUI: C3809431
Disease: MICROCEPHALY 11, PRIMARY, AUTOSOMAL RECESSIVE
MICROCEPHALY 11, PRIMARY, AUTOSOMAL RECESSIVE 		0.800 1.000 0 2013 2013
dbSNP: rs587777036
rs587777036
PHC1
0.925 0.120 12 8939418 missense variant C/T snv
CUI: C1843367
Disease: Poor school performance
Poor school performance 		0.700 0
dbSNP: rs587777036
rs587777036
PHC1
0.925 0.120 12 8939418 missense variant C/T snv
CUI: C0431350
Disease: Primary microcephaly
Primary microcephaly 		0.700 0