C1S Chromosome 12
Complement C1s
Upload your DNA to see your personal genotypes for variants in C1S.
What This Gene Does
This gene encodes a serine protease, which is a major constituent of the human complement subcomponent C1. C1s associates with two other complement components C1r and C1q in order to yield the first component of the serum complement system. Defects in this gene are the cause of selective C1s deficiency. [provided by RefSeq, Mar 2009]
Gene Info
Gene Group
"Sushi domain containing|Complement system activation components"
Locus Type
gene with protein product
Location
12p13.31
Ensembl
ENSG00000182326
Associated Conditions (9)
Complement component C1s deficiency
Ehlers-Danlos syndrome
periodontal type 2
Inborn genetic diseases
Uterine corpus endometrial carcinoma
C1S-related disorder
Malignant tumor of esophagus
Ovarian serous cystadenocarcinoma
periodontal type 1
Key Variants
RS117907409
Conflicting classifications of pathogenicity
Complement component C1s deficiency, Ehlers-Danlos syndrome, periodontal type 2
Health Risk
RS1198867920
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS139493862
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS145759514
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS148105120
Conflicting classifications of pathogenicity
Ehlers-Danlos syndrome, periodontal type 2, Complement component C1s deficiency
Health Risk
RS150549869
Conflicting classifications of pathogenicity
Ehlers-Danlos syndrome, periodontal type 2, Complement component C1s deficiency
Health Risk
RS201750214
Conflicting classifications of pathogenicity
Inborn genetic diseases, C1S-related disorder, Inborn genetic diseases
Health Risk
RS370458245
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS781938303
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS781944012
Conflicting classifications of pathogenicity
Ehlers-Danlos syndrome, periodontal type 2, Inborn genetic diseases
Health Risk
RS782026056
Conflicting classifications of pathogenicity
Health Risk
RS782630063
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
All Variants (41)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS117907409 | Health Risk | Conflicting classifications of pathogenicity | Complement component C1s deficiency, Ehlers-Danlos syndrome, periodontal type 2 |
| RS1198867920 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS139493862 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS145759514 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS148105120 | Health Risk | Conflicting classifications of pathogenicity | Ehlers-Danlos syndrome, periodontal type 2, Complement component C1s deficiency |
| RS150549869 | Health Risk | Conflicting classifications of pathogenicity | Ehlers-Danlos syndrome, periodontal type 2, Complement component C1s deficiency |
| RS201750214 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, C1S-related disorder, Inborn genetic diseases |
| RS370458245 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS781938303 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS781944012 | Health Risk | Conflicting classifications of pathogenicity | Ehlers-Danlos syndrome, periodontal type 2, Inborn genetic diseases |
| RS782026056 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS782630063 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS78523176 | Health Risk | Conflicting classifications of pathogenicity | Malignant tumor of esophagus, Ovarian serous cystadenocarcinoma, Malignant tumor of esophagus |
| RS112558253 | Health Risk | Likely pathogenic | — |
| RS2539591419 | Health Risk | Likely pathogenic | Ehlers-Danlos syndrome, periodontal type 2, Ehlers-Danlos syndrome |
| RS2539603566 | Health Risk | Likely pathogenic | C1S-related disorder, C1S-related disorder |
| RS2539604557 | Health Risk | Likely pathogenic | — |
| RS2539608457 | Health Risk | Likely pathogenic | Complement component C1s deficiency, Complement component C1s deficiency |
| RS1331982735 | Health Risk | Pathogenic | — |
| RS1358933191 | Health Risk | Pathogenic | — |
| RS1555161495 | Health Risk | Pathogenic | — |
| RS1555161899 | Health Risk | Pathogenic | — |
| RS1555163022 | Health Risk | Pathogenic | — |
| RS2135727106 | Health Risk | Pathogenic | Complement component C1s deficiency, Complement component C1s deficiency |
| RS2135729949 | Health Risk | Pathogenic | — |
| RS2539593127 | Health Risk | Pathogenic | — |
| RS2539593557 | Health Risk | Pathogenic | — |
| RS2539594071 | Health Risk | Pathogenic | — |
| RS2539599999 | Health Risk | Pathogenic | — |
| RS2539601537 | Health Risk | Pathogenic | — |
| RS2539602448 | Health Risk | Pathogenic | — |
| RS2539606922 | Health Risk | Pathogenic | — |
| RS2539607951 | Health Risk | Pathogenic | — |
| RS766474846 | Health Risk | Pathogenic | — |
| RS781818365 | Health Risk | Pathogenic | — |
| RS781856506 | Health Risk | Pathogenic | Complement component C1s deficiency, Ehlers-Danlos syndrome, periodontal type 2 |
| RS782613115 | Health Risk | Pathogenic | — |
| RS782751698 | Health Risk | Pathogenic | — |
| RS886040974 | Health Risk | Pathogenic | Ehlers-Danlos syndrome, periodontal type 2, periodontal type 1 |
| RS886040975 | Health Risk | Pathogenic | Ehlers-Danlos syndrome, periodontal type 2, periodontal type 1 |
| RS1391790248 | Health Risk | Pathogenic/Likely pathogenic | Complement component C1s deficiency, Ehlers-Danlos syndrome, periodontal type 2 |