C9 Chromosome 5
Complement C9
Upload your DNA to see your personal genotypes for variants in C9.
What This Gene Does
This gene encodes the final component of the complement system. It participates in the formation of the Membrane Attack Complex (MAC). The MAC assembles on bacterial membranes to form a pore, permitting disruption of bacterial membrane organization. Mutations in this gene cause component C9 deficiency. [provided by RefSeq, Feb 2009]
Gene Info
Gene Group
"Complement system activation components|Membrane Attack complex"
Locus Type
gene with protein product
Location
5p13.1
Ensembl
ENSG00000113600
Associated Conditions (8)
Inborn genetic diseases
Complement component 9 deficiency
Age related macular degeneration 15
C9-related disorder
Thyroid cancer
nonmedullary
1
Gastric cancer
Key Variants
RS1037082089
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS121909593
Conflicting classifications of pathogenicity
Complement component 9 deficiency, Age related macular degeneration 15, Complement component 9 deficiency
Health Risk
RS137891079
Conflicting classifications of pathogenicity
Complement component 9 deficiency, Age related macular degeneration 15, Complement component 9 deficiency
Health Risk
RS145969667
Conflicting classifications of pathogenicity
Complement component 9 deficiency, Age related macular degeneration 15, Inborn genetic diseases
Health Risk
RS765507796
Conflicting classifications of pathogenicity
Health Risk
RS868081502
Conflicting classifications of pathogenicity
C9-related disorder, C9-related disorder
Health Risk
RS1037222479
Likely pathogenic
Health Risk
RS2479185893
Likely pathogenic
Health Risk
RS763129394
Likely pathogenic
Health Risk
RS1016438634
Pathogenic
Health Risk
RS1041610302
Pathogenic
Health Risk
RS1041910675
Pathogenic
Health Risk
All Variants (42)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1037082089 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS121909593 | Health Risk | Conflicting classifications of pathogenicity | Complement component 9 deficiency, Age related macular degeneration 15, Complement component 9 deficiency |
| RS137891079 | Health Risk | Conflicting classifications of pathogenicity | Complement component 9 deficiency, Age related macular degeneration 15, Complement component 9 deficiency |
| RS145969667 | Health Risk | Conflicting classifications of pathogenicity | Complement component 9 deficiency, Age related macular degeneration 15, Inborn genetic diseases |
| RS765507796 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS868081502 | Health Risk | Conflicting classifications of pathogenicity | C9-related disorder, C9-related disorder |
| RS1037222479 | Health Risk | Likely pathogenic | — |
| RS2479185893 | Health Risk | Likely pathogenic | — |
| RS763129394 | Health Risk | Likely pathogenic | — |
| RS1016438634 | Health Risk | Pathogenic | — |
| RS1041610302 | Health Risk | Pathogenic | — |
| RS1041910675 | Health Risk | Pathogenic | — |
| RS121909594 | Health Risk | Pathogenic | Complement component 9 deficiency, Complement component 9 deficiency |
| RS1357217922 | Health Risk | Pathogenic | — |
| RS1414248101 | Health Risk | Pathogenic | — |
| RS1425386869 | Health Risk | Pathogenic | — |
| RS145434331 | Health Risk | Pathogenic | Complement component 9 deficiency, Complement component 9 deficiency |
| RS1483256607 | Health Risk | Pathogenic | — |
| RS148881448 | Health Risk | Pathogenic | — |
| RS1754072533 | Health Risk | Pathogenic | — |
| RS2111835976 | Health Risk | Pathogenic | Complement component 9 deficiency, Complement component 9 deficiency |
| RS2111836553 | Health Risk | Pathogenic | — |
| RS2111876683 | Health Risk | Pathogenic | — |
| RS2111887398 | Health Risk | Pathogenic | — |
| RS748464075 | Health Risk | Pathogenic | — |
| RS750617137 | Health Risk | Pathogenic | — |
| RS754943606 | Health Risk | Pathogenic | — |
| RS758239190 | Health Risk | Pathogenic | — |
| RS758290425 | Health Risk | Pathogenic | — |
| RS763026372 | Health Risk | Pathogenic | — |
| RS766483572 | Health Risk | Pathogenic | — |
| RS1027370764 | Health Risk | Pathogenic/Likely pathogenic | Age related macular degeneration 15, Complement component 9 deficiency, Age related macular degeneration 15 |
| RS121909592 | Health Risk | Pathogenic/Likely pathogenic | Complement component 9 deficiency, Thyroid cancer, nonmedullary |
| RS144138616 | Health Risk | Pathogenic/Likely pathogenic | Complement component 9 deficiency, Complement component 9 deficiency |
| RS146217095 | Health Risk | Pathogenic/Likely pathogenic | Complement component 9 deficiency, Complement component 9 deficiency |
| RS1753477155 | Health Risk | Pathogenic/Likely pathogenic | Complement component 9 deficiency, Age related macular degeneration 15, Complement component 9 deficiency |
| RS34000044 | Health Risk | Pathogenic/Likely pathogenic | Complement component 9 deficiency, Age related macular degeneration 15, C9-related disorder |
| RS752437276 | Health Risk | Pathogenic/Likely pathogenic | Age related macular degeneration 15, Complement component 9 deficiency, C9-related disorder |
| RS767328870 | Health Risk | Pathogenic/Likely pathogenic | — |
| RS774253048 | Health Risk | Pathogenic/Likely pathogenic | Complement component 9 deficiency, Age related macular degeneration 15, Complement component 9 deficiency |
| RS777158966 | Health Risk | Pathogenic/Likely pathogenic | C9-related disorder, C9-related disorder |
| RS778518669 | Health Risk | Pathogenic/Likely pathogenic | Complement component 9 deficiency, Complement component 9 deficiency |