rs730881864, NBN

N. diseases: 4
Source: ALL
Disease N. SNPs d DSI v DPI v Chr Position Consequence Alleles Class AFEXOME AFGENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
Nijmegen Breakage Syndrome
CUI: C0398791
Disease: Nijmegen Breakage Syndrome
144 0.882 0.160 8 89943297 stop gained G/A;C snv 2.4E-05; 4.0E-05 0.700 1.000 2 2016 2017
Neoplastic Syndromes, Hereditary
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
6387 0.882 0.160 8 89943297 stop gained G/A;C snv 2.4E-05; 4.0E-05 0.700 1.000 1 2016 2016
Acute lymphocytic leukemia
CUI: C0023449
Disease: Acute lymphocytic leukemia
222 0.882 0.160 8 89943297 stop gained G/A;C snv 2.4E-05; 4.0E-05 0.700 0
Aplastic Anemia
CUI: C0002874
Disease: Aplastic Anemia
30 0.882 0.160 8 89943297 stop gained G/A;C snv 2.4E-05; 4.0E-05 0.700 0