NIPBL, NIPBL cohesin loading factor, 25836

N. diseases: 169; N. variants: 268
Disease: Multiple congenital anomalies ×
Source: INFERRED ×
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: rs1554015303
rs1554015303 		1.000 0.080 5 36976342 stop gained C/T snv
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities 0.700 1.000 5 2004 2015