NIPBL, NIPBL cohesin loading factor, 25836

N. diseases: 225; N. variants: 270
Disease: Growth delay ×
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: rs1554032789
rs1554032789 		0.925 0.160 5 37048547 missense variant T/A snv
CUI: C0456070
Disease: Growth delay
Growth delay 		0.700 0