NIPBL, NIPBL cohesin loading factor, 25836

N. diseases: 169; N. variants: 268
Disease: Adolescent idiopathic scoliosis ×
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: rs192668
rs192668 		0.925 0.040 5 36982546 intron variant A/G snv 3.5E-02
CUI: C0410702
Disease: Adolescent idiopathic scoliosis
Adolescent idiopathic scoliosis 		Musculoskeletal Diseases 0.700 1.000 1 2018 2018