Disease: Nijmegen Breakage Syndrome ×
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: rs552453137
rs552453137 		0.925 0.160 3 14165512 missense variant A/G snv 2.0E-05 7.0E-06
CUI: C0398791
Disease: Nijmegen Breakage Syndrome
Nijmegen Breakage Syndrome 		Nutritional and Metabolic Diseases 0.010 1.000 1 2007 2007