rs1057516772, NBN

N. diseases: 2
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.
Neoplastic Syndromes, Hereditary
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
6387 1.000 0.040 8 89982719 splice region variant CAGGTTGGTTAC/- delins 0.700 0
Nijmegen Breakage Syndrome
CUI: C0398791
Disease: Nijmegen Breakage Syndrome
144 1.000 0.040 8 89982719 splice region variant CAGGTTGGTTAC/- delins 0.700 0