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: rs1554995260
rs1554995260
Entrez Id: 710
Gene Symbol: SERPING1
SERPING1
CUI: C0000737
Disease:
Abdominal Pain 		GT 0.700 CausalMutation CLINVAR
dbSNP: rs2511989
rs2511989
Entrez Id: 710
Gene Symbol: SERPING1
SERPING1
CUI: C0242383
Disease:
Age related macular degeneration 		0.070 GeneticVariation BEFREE The odds ratio for age-re</span>lated macular degeneration in rs2511989 G/A heterozygotes compared with wild type G/G homozygotes was 0.63 (95% CI 0.47-0.84). 18842294 2008
dbSNP: rs2511989
rs2511989
Entrez Id: 710
Gene Symbol: SERPING1
SERPING1
CUI: C0242383
Disease:
Age related macular degeneration 		0.070 GeneticVariation BEFREE The meta-analyses showed that the most-studied SNP rs2511989 was not significantly associated with all forms of AMD, neovascular AMD, or PCV in East Asians (P = 0.98, 0.93 and 0.30, respectively) but was associated with AMD in Caucasians (P = 0.04 for all AMD and 0.004 for neovascular AMD). 25800435 2015
dbSNP: rs2511989
rs2511989
Entrez Id: 710
Gene Symbol: SERPING1
SERPING1
CUI: C0242383
Disease:
Age related macular degeneration 		0.070 GeneticVariation BEFREE SERPING1 SNPs rs1005510 and rs2511989 were significantly associated with neovascular AMD in our cohort, with rs1005510 conferring an adverse risk effect (OR 1.49, 95% CI 1.18 to 1.88) and rs2511989 conferring a protective effect (OR 0.73, 95% CI 0.59 to 0.90). 20606025 2010
dbSNP: rs2511989
rs2511989
Entrez Id: 710
Gene Symbol: SERPING1
SERPING1
CUI: C0242383
Disease:
Age related macular degeneration 		0.070 GeneticVariation BEFREE Our sample size had a statistical power of more than 90% to detect an association of a risk allele with an odds ratio reported in the original studies for rs2511989</span> for developing AMD. 21526158 2011
dbSNP: rs2511989
rs2511989
Entrez Id: 710
Gene Symbol: SERPING1
SERPING1
CUI: C0242383
Disease:
Age related macular degeneration 		0.070 GeneticVariation BEFREE The current meta-analysis shows that the SERPING1 rs2511989 polymorphism may have a positive effect on the risk of AMD, especially among Caucasians. 25352749 2014
dbSNP: rs2511989
rs2511989
Entrez Id: 710
Gene Symbol: SERPING1
SERPING1
CUI: C0242383
Disease:
Age related macular degeneration 		0.070 GeneticVariation BEFREE A previously reported age-related macular degeneration-related risk factor (rs2511989) was forcibly included. 20161815 2010
dbSNP: rs2511989
rs2511989
Entrez Id: 710
Gene Symbol: SERPING1
SERPING1
CUI: C0242383
Disease:
Age related macular degeneration 		0.070 GeneticVariation BEFREE The seven tag-SNPs were not associated with AMD in the Mayo subjects (p=0.13-0.70) and rs2511989 was also not associated with AMD in the Mayo or AREDS subjects (p=0.44-0.45). 19169411 2009
dbSNP: rs1005510
rs1005510
Entrez Id: 710
Gene Symbol: SERPING1
SERPING1
CUI: C0242383
Disease:
Age related macular degeneration 		0.010 GeneticVariation BEFREE SERPING1 SNPs rs1005510 and rs2511989 were significantly associated with neovascular AMD in our cohort, with rs1005510 conferring an adverse risk effect (OR 1.49, 95% CI 1.18 to 1.88) and rs2511989 conferring a protective effect (OR 0.73, 95% CI 0.59 to 0.90). 20606025 2010
dbSNP: rs11603020
rs11603020
Entrez Id: 710
Gene Symbol: SERPING1
SERPING1
CUI: C0242383
Disease:
Age related macular degeneration 		0.010 GeneticVariation BEFREE The rs11603020 variant had no effect on AMD susceptibility in this study (OR 0.98, 95% CI 0.78 to 1.24). 20606025 2010
dbSNP: rs1554995260
rs1554995260
Entrez Id: 710
Gene Symbol: SERPING1
SERPING1
CUI: C0002994
Disease:
Angioedema 		GT 0.700 CausalMutation CLINVAR
dbSNP: rs978962357
rs978962357
Entrez Id: 710
Gene Symbol: SERPING1
SERPING1
CUI: C0002994
Disease:
Angioedema 		C 0.700 GeneticVariation CLINVAR
dbSNP: rs28940870
rs28940870
Entrez Id: 710
Gene Symbol: SERPING1
SERPING1
CUI: C0019243
Disease:
Angioedemas, Hereditary 		0.030 GeneticVariation BEFREE All C1-INH-HAE type II patients from three families harboured the same substitution (c.1396C>T). 26535898 2015
dbSNP: rs28940870
rs28940870
Entrez Id: 710
Gene Symbol: SERPING1
SERPING1
CUI: C0019243
Disease:
Angioedemas, Hereditary 		0.030 GeneticVariation BEFREE We found the g.16788C>T (p.Arg444Cys) mutation in each 3, type II HAE-families. 14635117 2003
dbSNP: rs28940870
rs28940870
Entrez Id: 710
Gene Symbol: SERPING1
SERPING1
CUI: C0019243
Disease:
Angioedemas, Hereditary 		0.030 GeneticVariation BEFREE 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: C0019243
Disease:
Angioedemas, Hereditary 		0.020 GeneticVariation BEFREE A P1 mutation (Arg-444-->Leu) was identified in a dysfunctional C1 inhibitor from a patient with type 2 hereditary angioneurotic edema. 1451784 1992
dbSNP: rs121907948
rs121907948
Entrez Id: 710
Gene Symbol: SERPING1
SERPING1
CUI: C0019243
Disease:
Angioedemas, Hereditary 		0.020 GeneticVariation BEFREE Moreover, two previously described mutations in the reactive center of C1 inh, p.R444C and p.R444H, have been detected in four unrelated patients with type II HAE. 11933207 2002
dbSNP: rs121907950
rs121907950
Entrez Id: 710
Gene Symbol: SERPING1
SERPING1
CUI: C4016986
Disease:
COMPLEMENT COMPONENT 4, PARTIAL DEFICIENCY OF, DUE TO DYSFUNCTIONAL C1 INHIBITOR 		T 0.700 CausalMutation CLINVAR
dbSNP: rs2511989
rs2511989
Entrez Id: 710
Gene Symbol: SERPING1
SERPING1
CUI: C0017921
Disease:
Glycogen storage disease type II 		0.010 GeneticVariation BEFREE The meta-analyses showed that the most-studied SNP rs2511989 was not significantly associated with all forms of AMD, neovascular AMD, or PCV in East Asians (P = 0.98, 0.93 and 0.30, respectively) but was associated with AMD in Caucasians (P = 0.04 for all AMD and 0.004 for neovascular AMD). 25800435 2015
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 Dysfunctional C1-inhibitor(At), isolated from a type II hereditary-angio-oedema plasma, contains a P1 'reactive centre' (Arg444----His) mutation. 3178731 1988
dbSNP: rs121907948
rs121907948
Entrez Id: 710
Gene Symbol: SERPING1
SERPING1
CUI: C2717906
Disease:
Hereditary Angioedema Type I 		0.800 GeneticVariation UNIPROT The functional integrity of the serpin domain of C1-inhibitor depends on the unique N-terminal domain, as revealed by a pathological mutant. 12773530 2003
dbSNP: rs121907948
rs121907948
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: 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: 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