Disease: Microcephaly (physical finding) ×
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: rs1553827236
rs1553827236 		0.882 0.200 4 15516757 splice donor variant G/A snv
CUI: C4551563
Disease: Microcephaly (physical finding)
Microcephaly (physical finding) 		0.700 0
dbSNP: rs386833760
rs386833760 		0.790 0.360 4 15587929 splice donor variant G/- delins 1.9E-04
CUI: C4551563
Disease: Microcephaly (physical finding)
Microcephaly (physical finding) 		0.700 0