rs780379121, BLM

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 0.120 15 90794175 frameshift variant G/- del 1.2E-05 2.1E-05 0.700 1.000 2 2007 2015
Bloom Syndrome
CUI: C0005859
Disease: Bloom Syndrome
132 1.000 0.120 15 90794175 frameshift variant G/- del 1.2E-05 2.1E-05 0.700 1.000 1 2007 2007