SERPING1, serpin family G member 1, 710

N. diseases: 207; N. variants: 43
Source: ALL
Variant DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Disease Class Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs28940870
rs28940870
0.882 0.160 11 57614474 missense variant C/A;T snv
CUI: C0019243
Disease: Angioedemas, Hereditary
Angioedemas, Hereditary
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Immune System Diseases; Cardiovascular Diseases 0.030 1.000 3 1990 2015
dbSNP: rs121907948
rs121907948
0.882 0.160 11 57614475 missense variant G/A;C;T snv
CUI: C0019243
Disease: Angioedemas, Hereditary
Angioedemas, Hereditary
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Immune System Diseases; Cardiovascular Diseases 0.020 1.000 2 1992 2002