rs797044430, KNG1

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.
High molecular weight kininogen deficiency
CUI: C0272340
Disease: High molecular weight kininogen deficiency
3 1.000 0.040 3 186741608 frameshift variant -/C delins 0.700 0