rs767454740, 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.
Hereditary Breast and Ovarian Cancer Syndrome
CUI: C0677776
Disease: Hereditary Breast and Ovarian Cancer Syndrome
2117 0.882 0.320 8 89982736 frameshift variant AA/- delins 7.0E-06 0.700 1.000 1 2014 2014
Nijmegen Breakage Syndrome
CUI: C0398791
Disease: Nijmegen Breakage Syndrome
144 0.882 0.320 8 89982736 frameshift variant AA/- delins 7.0E-06 0.700 1.000 1 2014 2014
Acute lymphocytic leukemia
CUI: C0023449
Disease: Acute lymphocytic leukemia
222 0.882 0.320 8 89982736 frameshift variant AA/- delins 7.0E-06 0.700 0
Neoplastic Syndromes, Hereditary
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
6387 0.882 0.320 8 89982736 frameshift variant AA/- delins 7.0E-06 0.700 0