NBN, nibrin, 4683

N. diseases: 291; N. variants: 194
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: rs1805794
rs1805794
0.605 0.600 8 89978251 missense variant C/G snv 0.35 0.31
CUI: C0007131
Disease: Non-Small Cell Lung Carcinoma
Non-Small Cell Lung Carcinoma
Neoplasms; Respiratory Tract Diseases 0.030 1.000 3 2006 2012
dbSNP: rs1060503460
rs1060503460
0.925 0.200 8 89955461 missense variant A/T snv
CUI: C0007131
Disease: Non-Small Cell Lung Carcinoma
Non-Small Cell Lung Carcinoma
Neoplasms; Respiratory Tract Diseases 0.010 1.000 1 2006 2006
dbSNP: rs1061302
rs1061302
0.827 0.160 8 89946194 synonymous variant T/C snv 0.35 0.30
CUI: C0007131
Disease: Non-Small Cell Lung Carcinoma
Non-Small Cell Lung Carcinoma
Neoplasms; Respiratory Tract Diseases 0.010 1.000 1 2014 2014
dbSNP: rs13312840
rs13312840
0.882 0.120 8 89985681 intron variant A/G;T snv
CUI: C0007131
Disease: Non-Small Cell Lung Carcinoma
Non-Small Cell Lung Carcinoma
Neoplasms; Respiratory Tract Diseases 0.010 1.000 1 2012 2012
dbSNP: rs746965070
rs746965070
0.827 0.200 8 89955487 missense variant T/C snv 1.2E-05
CUI: C0007131
Disease: Non-Small Cell Lung Carcinoma
Non-Small Cell Lung Carcinoma
Neoplasms; Respiratory Tract Diseases 0.010 1.000 1 2006 2006
dbSNP: rs778998026
rs778998026
0.925 0.200 8 89981502 missense variant C/G;T snv 1.6E-05
CUI: C0007131
Disease: Non-Small Cell Lung Carcinoma
Non-Small Cell Lung Carcinoma
Neoplasms; Respiratory Tract Diseases 0.010 1.000 1 2006 2006
dbSNP: rs779346343
rs779346343
0.925 0.200 8 89970379 missense variant A/G snv 4.0E-06 7.0E-06
CUI: C0007131
Disease: Non-Small Cell Lung Carcinoma
Non-Small Cell Lung Carcinoma
Neoplasms; Respiratory Tract Diseases 0.010 1.000 1 2006 2006