rs367543013, BLM

N. diseases: 1
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.
Bloom Syndrome
CUI: C0005859
Disease: Bloom Syndrome
132 1.000 0.120 15 90750036 frameshift variant CT/- delins 0.700 1.000 3 2007 2015