Disease: MICROCEPHALY 16, PRIMARY, AUTOSOMAL RECESSIVE ×
Source: ALL
Variant DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Disease Class Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs863225465
rs863225465 		1.000 12 132734559 missense variant G/C snv
CUI: C4225249
Disease: MICROCEPHALY 16, PRIMARY, AUTOSOMAL RECESSIVE
MICROCEPHALY 16, PRIMARY, AUTOSOMAL RECESSIVE 		0.800 1.000 1 2014 2014
dbSNP: rs1185537869
rs1185537869 		1.000 12 132754714 missense variant C/A snv
CUI: C4225249
Disease: MICROCEPHALY 16, PRIMARY, AUTOSOMAL RECESSIVE
MICROCEPHALY 16, PRIMARY, AUTOSOMAL RECESSIVE 		0.700 0
dbSNP: rs201785518
rs201785518 		1.000 12 132729818 stop gained G/A snv 5.6E-05 1.4E-05
CUI: C4225249
Disease: MICROCEPHALY 16, PRIMARY, AUTOSOMAL RECESSIVE
MICROCEPHALY 16, PRIMARY, AUTOSOMAL RECESSIVE 		0.700 0