Disease: MICROCEPHALY 15, 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: rs1057517688
rs1057517688 		1.000 1 39965333 missense variant C/T snv 4.0E-06
CUI: C4225310
Disease: MICROCEPHALY 15, PRIMARY, AUTOSOMAL RECESSIVE
MICROCEPHALY 15, PRIMARY, AUTOSOMAL RECESSIVE 		0.800 0
dbSNP: rs1057517689
rs1057517689 		1.000 1 39965490 missense variant C/T snv 4.0E-06 7.0E-06
CUI: C4225310
Disease: MICROCEPHALY 15, PRIMARY, AUTOSOMAL RECESSIVE
MICROCEPHALY 15, PRIMARY, AUTOSOMAL RECESSIVE 		0.800 0
dbSNP: rs1057519087
rs1057519087 		0.925 0.120 1 39967632 missense variant C/T snv 7.0E-06
CUI: C4225310
Disease: MICROCEPHALY 15, PRIMARY, AUTOSOMAL RECESSIVE
MICROCEPHALY 15, PRIMARY, AUTOSOMAL RECESSIVE 		0.800 0
dbSNP: rs571640983
rs571640983 		0.925 1 39967913 missense variant C/A;T snv 4.0E-06; 8.0E-06
CUI: C4225310
Disease: MICROCEPHALY 15, PRIMARY, AUTOSOMAL RECESSIVE
MICROCEPHALY 15, PRIMARY, AUTOSOMAL RECESSIVE 		0.700 0