C2, complement C2, 717

N. diseases: 71; N. variants: 39
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs9332736
rs9332736
Entrez Id: 717;1589;102060414
Gene Symbol: C2;CYP21A2;C2-AS1
C2;CYP21A2;C2-AS1
CUI: C3150275
Disease:
COMPLEMENT COMPONENT 2 DEFICIENCY 		A 0.700 CausalMutation CLINVAR
dbSNP: rs558702
rs558702
Entrez Id: 717;1589;221527
Gene Symbol: C2;CYP21A2;ZBTB12
C2;CYP21A2;ZBTB12
CUI: C0011854
Disease:
Diabetes Mellitus, Insulin-Dependent 		0.700 GeneticVariation GWASDB A genome-wide association study identifies KIAA0350 as a type 1 diabetes gene. 17632545 2007
dbSNP: rs9267665
rs9267665
Entrez Id: 717;1589;221527
Gene Symbol: C2;CYP21A2;ZBTB12
C2;CYP21A2;ZBTB12
CUI: C0011854
Disease:
Diabetes Mellitus, Insulin-Dependent 		0.700 GeneticVariation GWASDB A genome-wide association study identifies KIAA0350 as a type 1 diabetes gene. 17632545 2007
dbSNP: rs558702
rs558702
Entrez Id: 717;1589;221527
Gene Symbol: C2;CYP21A2;ZBTB12
C2;CYP21A2;ZBTB12
CUI: C0152013
Disease:
Adenocarcinoma of lung (disorder) 		0.700 GeneticVariation GWASDB A genome-wide association study of lung cancer identifies a region of chromosome 5p15 associated with risk for adenocarcinoma. 19836008 2009
dbSNP: rs1042663
rs1042663
Entrez Id: 717;1589;102060414
Gene Symbol: C2;CYP21A2;C2-AS1
C2;CYP21A2;C2-AS1
CUI: C0003873
Disease:
Rheumatoid Arthritis 		0.700 GeneticVariation GWASDB A genome-wide association study suggests contrasting associations in ACPA-positive versus ACPA-negative rheumatoid arthritis. 21156761 2011
dbSNP: rs2734335
rs2734335
Entrez Id: 717;1589
Gene Symbol: C2;CYP21A2
C2;CYP21A2
CUI: C0003873
Disease:
Rheumatoid Arthritis 		0.700 GeneticVariation GWASDB A genome-wide association study suggests contrasting associations in ACPA-positive versus ACPA-negative rheumatoid arthritis. 21156761 2011
dbSNP: rs497239
rs497239
Entrez Id: 717;1589;102060414
Gene Symbol: C2;CYP21A2;C2-AS1
C2;CYP21A2;C2-AS1
CUI: C0003873
Disease:
Rheumatoid Arthritis 		0.700 GeneticVariation GWASDB A genome-wide association study suggests contrasting associations in ACPA-positive versus ACPA-negative rheumatoid arthritis. 21156761 2011
dbSNP: rs497309
rs497309
Entrez Id: 717;1589
Gene Symbol: C2;CYP21A2
C2;CYP21A2
CUI: C0003873
Disease:
Rheumatoid Arthritis 		0.700 GeneticVariation GWASDB A genome-wide association study suggests contrasting associations in ACPA-positive versus ACPA-negative rheumatoid arthritis. 21156761 2011
dbSNP: rs498240
rs498240
Entrez Id: 717;1589
Gene Symbol: C2;CYP21A2
C2;CYP21A2
CUI: C0003873
Disease:
Rheumatoid Arthritis 		0.700 GeneticVariation GWASDB A genome-wide association study suggests contrasting associations in ACPA-positive versus ACPA-negative rheumatoid arthritis. 21156761 2011
dbSNP: rs511294
rs511294
Entrez Id: 717;1589
Gene Symbol: C2;CYP21A2
C2;CYP21A2
CUI: C0003873
Disease:
Rheumatoid Arthritis 		0.700 GeneticVariation GWASDB A genome-wide association study suggests contrasting associations in ACPA-positive versus ACPA-negative rheumatoid arthritis. 21156761 2011
dbSNP: rs544167
rs544167
Entrez Id: 717;1589
Gene Symbol: C2;CYP21A2
C2;CYP21A2
CUI: C0003873
Disease:
Rheumatoid Arthritis 		0.700 GeneticVariation GWASDB A genome-wide association study suggests contrasting associations in ACPA-positive versus ACPA-negative rheumatoid arthritis. 21156761 2011
dbSNP: rs550605
rs550605
Entrez Id: 717;1589;102060414
Gene Symbol: C2;CYP21A2;C2-AS1
C2;CYP21A2;C2-AS1
CUI: C0003873
Disease:
Rheumatoid Arthritis 		0.700 GeneticVariation GWASDB A genome-wide association study suggests contrasting associations in ACPA-positive versus ACPA-negative rheumatoid arthritis. 21156761 2011
dbSNP: rs558702
rs558702
Entrez Id: 717;1589;221527
Gene Symbol: C2;CYP21A2;ZBTB12
C2;CYP21A2;ZBTB12
CUI: C0003873
Disease:
Rheumatoid Arthritis 		0.700 GeneticVariation GWASDB A genome-wide association study suggests contrasting associations in ACPA-positive versus ACPA-negative rheumatoid arthritis. 21156761 2011
dbSNP: rs609061
rs609061
Entrez Id: 717;1589;102060414
Gene Symbol: C2;CYP21A2;C2-AS1
C2;CYP21A2;C2-AS1
CUI: C0003873
Disease:
Rheumatoid Arthritis 		0.700 GeneticVariation GWASDB A genome-wide association study suggests contrasting associations in ACPA-positive versus ACPA-negative rheumatoid arthritis. 21156761 2011
dbSNP: rs621701
rs621701
Entrez Id: 717;1589;102060414
Gene Symbol: C2;CYP21A2;C2-AS1
C2;CYP21A2;C2-AS1
CUI: C0003873
Disease:
Rheumatoid Arthritis 		0.700 GeneticVariation GWASDB A genome-wide association study suggests contrasting associations in ACPA-positive versus ACPA-negative rheumatoid arthritis. 21156761 2011
dbSNP: rs644045
rs644045
Entrez Id: 717;1589
Gene Symbol: C2;CYP21A2
C2;CYP21A2
CUI: C0003873
Disease:
Rheumatoid Arthritis 		0.700 GeneticVariation GWASDB A genome-wide association study suggests contrasting associations in ACPA-positive versus ACPA-negative rheumatoid arthritis. 21156761 2011
dbSNP: rs659445
rs659445
Entrez Id: 717;1589;10919
Gene Symbol: C2;CYP21A2;EHMT2
C2;CYP21A2;EHMT2
CUI: C0003873
Disease:
Rheumatoid Arthritis 		0.700 GeneticVariation GWASDB A genome-wide association study suggests contrasting associations in ACPA-positive versus ACPA-negative rheumatoid arthritis. 21156761 2011
dbSNP: rs116477171
rs116477171
Entrez Id: 717;1589
Gene Symbol: C2;CYP21A2
C2;CYP21A2
CUI: C1445957
Disease:
Serum total cholesterol measurement 		C 0.700 GeneticVariation GWASCAT A large electronic-health-record-based genome-wide study of serum lipids. 29507422 2018
dbSNP: rs116477171
rs116477171
Entrez Id: 717;1589
Gene Symbol: C2;CYP21A2
C2;CYP21A2
CUI: C0202117
Disease:
Low density lipoprotein cholesterol measurement 		C 0.700 GeneticVariation GWASCAT A large electronic-health-record-based genome-wide study of serum lipids. 29507422 2018
dbSNP: rs116477171
rs116477171
Entrez Id: 717;1589
Gene Symbol: C2;CYP21A2
C2;CYP21A2
CUI: C0202236
Disease:
Triglycerides measurement 		C 0.700 GeneticVariation GWASCAT A large electronic-health-record-based genome-wide study of serum lipids. 29507422 2018
dbSNP: rs151340617
rs151340617
Entrez Id: 717;1589;102060414
Gene Symbol: C2;CYP21A2;C2-AS1
C2;CYP21A2;C2-AS1
CUI: C3150275
Disease:
COMPLEMENT COMPONENT 2 DEFICIENCY 		0.700 GeneticVariation UNIPROT A novel type II complement C2 deficiency allele in an African-American family. 9670930 1998
dbSNP: rs28934590
rs28934590
Entrez Id: 717;1589
Gene Symbol: C2;CYP21A2
C2;CYP21A2
CUI: C3150275
Disease:
COMPLEMENT COMPONENT 2 DEFICIENCY 		0.700 GeneticVariation UNIPROT A novel type II complement C2 deficiency allele in an African-American family. 9670930 1998
dbSNP: rs547154
rs547154
Entrez Id: 717;1589;102060414
Gene Symbol: C2;CYP21A2;C2-AS1
C2;CYP21A2;C2-AS1
CUI: C1504336
Disease:
Polypoidal choroidal vasculopathy 		0.050 GeneticVariation BEFREE A SNP (rs547154) in the C2 gene and three SNPs (rs541862, rs2072633, rs4151667) in the CFB gene were genotyped, and case-control studies were performed in subjects with these PCV subtypes. 24965207 2014
dbSNP: rs138195505
rs138195505
Entrez Id: 717;1589
Gene Symbol: C2;CYP21A2
C2;CYP21A2
CUI: C0242383
Disease:
Age related macular degeneration 		0.020 GeneticVariation BEFREE Abnormal regulation of the complement system likely caused by the Y402H polymorphism in the complement factor H gene is a recognized risk factor for AMD, as is the A69S variant in the poorly characterized LOC387715 gene. 17576744 2007
dbSNP: rs497309
rs497309
Entrez Id: 717;1589
Gene Symbol: C2;CYP21A2
C2;CYP21A2
CUI: C1367654
Disease:
Marginal Zone B-Cell Lymphoma 		0.010 GeneticVariation BEFREE Additionally, SNPs (C2 rs497309, A>C and C3 rs344550, G>C) in two complement genes were positively associated with marginal zone lymphoma (MZL) and C1QG was associated with CLL/SLL, but these results were based on a limited number of cases. 22170086 2012