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: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm
Neoplasms 0.080 0.625 8 2009 2019
dbSNP: rs61754966
rs61754966
0.701 0.280 8 89978293 missense variant T/C;G snv 1.2E-03
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm
Neoplasms 0.040 1.000 4 2007 2013
dbSNP: rs34767364
rs34767364
0.701 0.280 8 89971232 missense variant G/A;C snv 2.5E-03
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm
Neoplasms 0.020 1.000 2 2004 2013
dbSNP: rs2735383
rs2735383
0.708 0.360 8 89935041 3 prime UTR variant C/G snv 0.31
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm
Neoplasms 0.010 1.000 1 2013 2013
dbSNP: rs61753720
rs61753720
1.000 0.120 8 89981412 missense variant C/A;G;T snv 1.7E-03 1.8E-03
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm
Neoplasms 0.010 < 0.001 1 2013 2013
dbSNP: rs769420
rs769420
8 89970463 missense variant G/A snv 2.2E-03 9.4E-03
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm
Neoplasms 0.010 < 0.001 1 2013 2013