NIPBL, NIPBL cohesin loading factor, 25836

N. diseases: 225; N. variants: 270
Disease: Short stature ×
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: rs1057516034
rs1057516034 		0.925 0.120 5 37052453 stop gained C/T snv
CUI: C0349588
Disease: Short stature
Short stature 		0.700 1.000 1 2016 2016