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: rs61754966
rs61754966
0.701 0.280 8 89978293 missense variant T/C;G snv 1.2E-03
CUI: C0002874
Disease: Aplastic Anemia
Aplastic Anemia
Hemic and Lymphatic Diseases 0.720 1.000 2 2004 2014
dbSNP: rs587782545
rs587782545
0.882 0.160 8 89947835 stop gained T/A snv 3.9E-05 2.1E-05
CUI: C0002874
Disease: Aplastic Anemia
Aplastic Anemia
Hemic and Lymphatic Diseases 0.700 0
dbSNP: rs730881864
rs730881864
0.882 0.160 8 89943297 stop gained G/A;C snv 2.4E-05; 4.0E-05
CUI: C0002874
Disease: Aplastic Anemia
Aplastic Anemia
Hemic and Lymphatic Diseases 0.700 0
dbSNP: rs767215758
rs767215758
0.882 0.160 8 89958819 stop gained G/A snv 8.0E-06
CUI: C0002874
Disease: Aplastic Anemia
Aplastic Anemia
Hemic and Lymphatic Diseases 0.700 0