NIPBL, NIPBL cohesin loading factor, 25836

N. diseases: 225; N. variants: 270
Disease: Cornelia De Lange Syndrome ×
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: rs866740147
rs866740147 		1.000 0.080 5 37000507 stop gained C/T snv
CUI: C0270972
Disease: Cornelia De Lange Syndrome
Cornelia De Lange Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 0