NIPBL, NIPBL cohesin loading factor, 25836

N. diseases: 225; N. variants: 270
Disease: Body Height ×
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: rs2307857
rs2307857 		5 37038415 intron variant -/ATGT delins
CUI: C0005890
Disease: Body Height
Body Height 		0.700 1.000 1 2017 2017
dbSNP: rs301901
rs301901 		5 37046524 intron variant A/G;T snv
CUI: C0005890
Disease: Body Height
Body Height 		0.700 1.000 1 2014 2014