SERPING1, serpin family G member 1, 710

N. diseases: 207; N. variants: 43
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs281875170
rs281875170
Entrez Id: 710
Gene Symbol: SERPING1
SERPING1
CUI: C2717906
Disease:
Hereditary Angioedema Type I 		0.800 GeneticVariation UNIPROT Unique C1 inhibitor dysfunction in a kindred without angioedema. II. Identification of an Ala443-->Val substitution and functional analysis of the recombinant mutant protein. 7883978 1995
dbSNP: rs281875170
rs281875170
Entrez Id: 710
Gene Symbol: SERPING1
SERPING1
CUI: C2717906
Disease:
Hereditary Angioedema Type I 		0.800 GeneticVariation UNIPROT A mutation unique in serine protease inhibitors (serpins) identified in a family with type II hereditary angioneurotic edema. 8529136 1995
dbSNP: rs28940870
rs28940870
Entrez Id: 710
Gene Symbol: SERPING1
SERPING1
CUI: C2717906
Disease:
Hereditary Angioedema Type I 		0.800 GeneticVariation UNIPROT A mutation unique in serine protease inhibitors (serpins) identified in a family with type II hereditary angioneurotic edema. 8529136 1995
dbSNP: rs28940870
rs28940870
Entrez Id: 710
Gene Symbol: SERPING1
SERPING1
CUI: C2717906
Disease:
Hereditary Angioedema Type I 		0.800 GeneticVariation UNIPROT Crucial residues in the carboxy-terminal end of C1 inhibitor revealed by pathogenic mutants impaired in secretion or function. 7814636 1995
dbSNP: rs28940870
rs28940870
Entrez Id: 710
Gene Symbol: SERPING1
SERPING1
CUI: C2717906
Disease:
Hereditary Angioedema Type I 		0.800 GeneticVariation UNIPROT Unique C1 inhibitor dysfunction in a kindred without angioedema. II. Identification of an Ala443-->Val substitution and functional analysis of the recombinant mutant protein. 7883978 1995
dbSNP: rs121907948
rs121907948
Entrez Id: 710
Gene Symbol: SERPING1
SERPING1
CUI: C2717906
Disease:
Hereditary Angioedema Type I 		0.800 GeneticVariation UNIPROT Mutations in the C1 inhibitor gene that result in hereditary angioneurotic edema. 8172583 1993
dbSNP: rs281875170
rs281875170
Entrez Id: 710
Gene Symbol: SERPING1
SERPING1
CUI: C2717906
Disease:
Hereditary Angioedema Type I 		0.800 GeneticVariation UNIPROT Mutations in the C1 inhibitor gene that result in hereditary angioneurotic edema. 8172583 1993
dbSNP: rs28940870
rs28940870
Entrez Id: 710
Gene Symbol: SERPING1
SERPING1
CUI: C2717906
Disease:
Hereditary Angioedema Type I 		0.800 GeneticVariation UNIPROT Mutations in the C1 inhibitor gene that result in hereditary angioneurotic edema. 8172583 1993
dbSNP: rs121907948
rs121907948
Entrez Id: 710
Gene Symbol: SERPING1
SERPING1
CUI: C2717906
Disease:
Hereditary Angioedema Type I 		0.800 GeneticVariation UNIPROT A dysfunctional C1 inhibitor protein with a new reactive center mutation (Arg-444-->Leu). 1451784 1992
dbSNP: rs121907948
rs121907948
Entrez Id: 710
Gene Symbol: SERPING1
SERPING1
CUI: C2717906
Disease:
Hereditary Angioedema Type I 		0.800 GeneticVariation UNIPROT C1 inhibitor hinge region mutations produce dysfunction by different mechanisms. 1363816 1992
dbSNP: rs281875170
rs281875170
Entrez Id: 710
Gene Symbol: SERPING1
SERPING1
CUI: C2717906
Disease:
Hereditary Angioedema Type I 		0.800 GeneticVariation UNIPROT A dysfunctional C1 inhibitor protein with a new reactive center mutation (Arg-444-->Leu). 1451784 1992
dbSNP: rs281875170
rs281875170
Entrez Id: 710
Gene Symbol: SERPING1
SERPING1
CUI: C2717906
Disease:
Hereditary Angioedema Type I 		0.800 GeneticVariation UNIPROT C1 inhibitor hinge region mutations produce dysfunction by different mechanisms. 1363816 1992
dbSNP: rs28940870
rs28940870
Entrez Id: 710
Gene Symbol: SERPING1
SERPING1
CUI: C2717906
Disease:
Hereditary Angioedema Type I 		0.800 GeneticVariation UNIPROT A dysfunctional C1 inhibitor protein with a new reactive center mutation (Arg-444-->Leu). 1451784 1992
dbSNP: rs28940870
rs28940870
Entrez Id: 710
Gene Symbol: SERPING1
SERPING1
CUI: C2717906
Disease:
Hereditary Angioedema Type I 		0.800 GeneticVariation UNIPROT C1 inhibitor hinge region mutations produce dysfunction by different mechanisms. 1363816 1992
dbSNP: rs121907948
rs121907948
Entrez Id: 710
Gene Symbol: SERPING1
SERPING1
CUI: C2717906
Disease:
Hereditary Angioedema Type I 		0.800 GeneticVariation UNIPROT Identification of a new P1 residue mutation (444Arg----Ser) in a dysfunctional C1 inhibitor protein contained in a type II hereditary angioedema plasma. 2365061 1990
dbSNP: rs121907948
rs121907948
Entrez Id: 710
Gene Symbol: SERPING1
SERPING1
CUI: C2717906
Disease:
Hereditary Angioedema Type I 		0.800 GeneticVariation UNIPROT Dysfunctional C1 inhibitor Ta: deletion of Lys-251 results in acquisition of an N-glycosylation site. 2118657 1990
dbSNP: rs121907948
rs121907948
Entrez Id: 710
Gene Symbol: SERPING1
SERPING1
CUI: C2717906
Disease:
Hereditary Angioedema Type I 		0.800 GeneticVariation UNIPROT Type II hereditary angioneurotic edema that may result from a single nucleotide change in the codon for alanine-436 in the C1 inhibitor gene. 2296585 1990
dbSNP: rs281875170
rs281875170
Entrez Id: 710
Gene Symbol: SERPING1
SERPING1
CUI: C2717906
Disease:
Hereditary Angioedema Type I 		0.800 GeneticVariation UNIPROT Dysfunctional C1 inhibitor Ta: deletion of Lys-251 results in acquisition of an N-glycosylation site. 2118657 1990
dbSNP: rs281875170
rs281875170
Entrez Id: 710
Gene Symbol: SERPING1
SERPING1
CUI: C2717906
Disease:
Hereditary Angioedema Type I 		0.800 GeneticVariation UNIPROT Identification of a new P1 residue mutation (444Arg----Ser) in a dysfunctional C1 inhibitor protein contained in a type II hereditary angioedema plasma. 2365061 1990
dbSNP: rs281875170
rs281875170
Entrez Id: 710
Gene Symbol: SERPING1
SERPING1
CUI: C2717906
Disease:
Hereditary Angioedema Type I 		0.800 GeneticVariation UNIPROT Type II hereditary angioneurotic edema that may result from a single nucleotide change in the codon for alanine-436 in the C1 inhibitor gene. 2296585 1990
dbSNP: rs28940870
rs28940870
Entrez Id: 710
Gene Symbol: SERPING1
SERPING1
CUI: C2717906
Disease:
Hereditary Angioedema Type I 		0.800 GeneticVariation UNIPROT Dysfunctional C1 inhibitor Ta: deletion of Lys-251 results in acquisition of an N-glycosylation site. 2118657 1990
dbSNP: rs28940870
rs28940870
Entrez Id: 710
Gene Symbol: SERPING1
SERPING1
CUI: C2717906
Disease:
Hereditary Angioedema Type I 		0.800 GeneticVariation UNIPROT Type II hereditary angioneurotic edema that may result from a single nucleotide change in the codon for alanine-436 in the C1 inhibitor gene. 2296585 1990
dbSNP: rs28940870
rs28940870
Entrez Id: 710
Gene Symbol: SERPING1
SERPING1
CUI: C2717906
Disease:
Hereditary Angioedema Type I 		0.800 GeneticVariation UNIPROT Identification of a new P1 residue mutation (444Arg----Ser) in a dysfunctional C1 inhibitor protein contained in a type II hereditary angioedema plasma. 2365061 1990
dbSNP: rs121907948
rs121907948
Entrez Id: 710
Gene Symbol: SERPING1
SERPING1
CUI: C2717906
Disease:
Hereditary Angioedema Type I 		0.800 GeneticVariation UNIPROT Dysfunctional C1-inhibitor(At), isolated from a type II hereditary-angio-oedema plasma, contains a P1 'reactive centre' (Arg444----His) mutation. 3178731 1988
dbSNP: rs281875170
rs281875170
Entrez Id: 710
Gene Symbol: SERPING1
SERPING1
CUI: C2717906
Disease:
Hereditary Angioedema Type I 		0.800 GeneticVariation UNIPROT Dysfunctional C1-inhibitor(At), isolated from a type II hereditary-angio-oedema plasma, contains a P1 'reactive centre' (Arg444----His) mutation. 3178731 1988