Disease: Autosomal Recessive Primary Microcephaly ×
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: rs199422126
rs199422126 		0.925 0.120 9 120550852 stop gained A/T snv
CUI: C3711387
Disease: Autosomal Recessive Primary Microcephaly
Autosomal Recessive Primary Microcephaly 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases 0.700 0
dbSNP: rs387906274
rs387906274 		0.925 0.120 9 120419975 intron variant T/C snv 1.6E-05 7.0E-06
CUI: C3711387
Disease: Autosomal Recessive Primary Microcephaly
Autosomal Recessive Primary Microcephaly 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases 0.700 0
dbSNP: rs746967357
rs746967357 		1.000 0.120 9 120419851 stop gained G/A snv 1.2E-05 7.0E-06
CUI: C3711387
Disease: Autosomal Recessive Primary Microcephaly
Autosomal Recessive Primary Microcephaly 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases 0.010 1.000 1 2017 2017
dbSNP: rs752092703
rs752092703 		1.000 0.120 9 120550818 missense variant C/G snv 1.2E-05 7.0E-06
CUI: C3711387
Disease: Autosomal Recessive Primary Microcephaly
Autosomal Recessive Primary Microcephaly 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases 0.010 1.000 1 2016 2016
dbSNP: rs772072816
rs772072816 		1.000 0.120 9 120439426 missense variant T/C snv 1.6E-05 2.1E-05
CUI: C3711387
Disease: Autosomal Recessive Primary Microcephaly
Autosomal Recessive Primary Microcephaly 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases 0.010 1.000 1 2016 2016