DYNC1H1, dynein cytoplasmic 1 heavy chain 1, 1778

N. diseases: 174; N. variants: 39
Disease: Malformations of Cortical Development, Group II ×
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: rs1555411378
rs1555411378 		0.925 0.080 14 102033157 missense variant C/T snv
CUI: C1837249
Disease: Malformations of Cortical Development, Group II
Malformations of Cortical Development, Group II 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 1.000 1 2018 2018
dbSNP: rs387906739
rs387906739 		0.882 0.200 14 102039416 missense variant A/C snv
CUI: C1837249
Disease: Malformations of Cortical Development, Group II
Malformations of Cortical Development, Group II 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.010 1.000 1 2012 2012
dbSNP: rs387906740
rs387906740 		0.882 0.200 14 102002546 missense variant G/A snv
CUI: C1837249
Disease: Malformations of Cortical Development, Group II
Malformations of Cortical Development, Group II 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.010 1.000 1 2012 2012