NIPBL, NIPBL cohesin loading factor, 25836

N. diseases: 169; N. variants: 268
Disease: Synophrys ×
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: rs1057516034
rs1057516034 		0.925 0.120 5 37052453 stop gained C/T snv
CUI: C0431447
Disease: Synophrys
Synophrys 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases 0.700 1.000 1 2016 2016