Variant (rsID / SNP)

rs35477594

rs35477594 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to C1QB. Location: chromosome 1, position 22,987,340. Clinical significance in the table: Uncertain significance.

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Reference-table entries

C1QBUncertain significance

Clinical significance (as recorded): Uncertain significance
Variant type: single nucleotide variant
Chromosome / position: 1:22987340
Cytoband: 1p36.12
HGVS: NM_001378156.1(C1QB):c.217G>A (p.Gly73Arg)
Allele change: Missense_G75R

Associated conditions / phenotypes

C1Q deficiency

Public references

dbSNP
ClinVar
Ensembl
gnomAD

Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.