Disease: Subcortical Band Heterotopia ×
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: rs121434488
rs121434488 		0.925 0.080 17 2674110 missense variant G/A;C snv 4.0E-06
CUI: C1848201
Disease: Subcortical Band Heterotopia
Subcortical Band Heterotopia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.710 1.000 1 2003 2003
dbSNP: rs121434484
rs121434484 		0.925 0.080 17 2670268 missense variant T/C snv
CUI: C1848201
Disease: Subcortical Band Heterotopia
Subcortical Band Heterotopia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 0
dbSNP: rs121434489
rs121434489 		0.925 0.080 17 2638310 stop gained C/T snv
CUI: C1848201
Disease: Subcortical Band Heterotopia
Subcortical Band Heterotopia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 0