COL4A1, collagen type IV alpha 1 chain, 1282

N. diseases: 277; N. variants: 62
Disease: Congenital porencephaly ×
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: rs1085307709
rs1085307709 		0.882 0.120 13 110170574 missense variant C/T snv
CUI: C0302892
Disease: Congenital porencephaly
Congenital porencephaly 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases 0.010 1.000 1 2015 2015
dbSNP: rs113994109
rs113994109 		0.827 0.200 13 110179370 missense variant C/T snv
CUI: C0302892
Disease: Congenital porencephaly
Congenital porencephaly 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases 0.010 1.000 1 2016 2016