rs121907947, SERPING1

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.
Hereditary Angioedema Type I
CUI: C2717906
Disease: Hereditary Angioedema Type I
35 0.925 0.160 11 57614450 missense variant G/A snv 0.700 1.000 16 1988 2014
Hereditary C1 esterase inhibitor deficiency - dysfunctional factor
CUI: C0398776
Disease: Hereditary C1 esterase inhibitor deficiency - dysfunctional factor
5 0.925 0.160 11 57614450 missense variant G/A snv 0.700 0