NBN, nibrin, 4683

N. diseases: 291; N. variants: 194
Disease: Developmental delay (disorder) ×
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: rs34767364
rs34767364 		0.701 0.280 8 89971232 missense variant G/A;C snv 2.5E-03
CUI: C0424605
Disease: Developmental delay (disorder)
Developmental delay (disorder) 		Mental Disorders 0.010 1.000 1 2006 2006