Variant (rsID / SNP)
rs172378
rs172378 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to C1QA. Location: chromosome 1, position 22,965,438. The table records no clinical significance for this variant.
Reference-table entries
C1QANot classified
- Variant type
- synonymous_variant
- Chromosome / position
- 1:22965438
- HGVS
- NM_001347465.2,c.276A>G,p.Gly92Gly
- Allele change
- Synonymous_G92G
Associated conditions / phenotypes
Systemic Lupus Erythematosus|Lupus Erythematosus|Autoimmune Disease|C1q Deficiency|Systemic Autoimmune Disease|Rheumatoid Arthritis|Alpha/beta T-Cell Lymphopenia with Gamma/delta T-Cell Expansion, Severe Cytomegalovirus Infection, and Autoimmunity|Arthritis|Autonomic Neuropathy|Polyneuropathy|Mycobacterium Tuberculosis 1
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.