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: rs11871753
rs11871753 		0.851 0.120 17 61779284 intron variant A/G snv 0.75
CUI: C0398791
Disease: Nijmegen Breakage Syndrome
Nijmegen Breakage Syndrome 		Nutritional and Metabolic Diseases 0.010 1.000 1 2018 2018
dbSNP: rs16945628
rs16945628 		0.851 0.120 17 61789868 intron variant T/C snv 0.60
CUI: C0398791
Disease: Nijmegen Breakage Syndrome
Nijmegen Breakage Syndrome 		Nutritional and Metabolic Diseases 0.010 1.000 1 2018 2018
dbSNP: rs7220719
rs7220719 		0.882 0.120 17 61736921 intron variant A/G snv 0.73
CUI: C0398791
Disease: Nijmegen Breakage Syndrome
Nijmegen Breakage Syndrome 		Nutritional and Metabolic Diseases 0.010 1.000 1 2018 2018