Variant (rsID / SNP)

rs28493229

rs28493229 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ITPKC, COQ8B. Location: chromosome 19, position 41,224,204. Clinical significance in the table: risk factor.

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Reference-table entries

ITPKCRisk factor

Clinical significance (as recorded): risk factor
Variant type: single nucleotide variant
Chromosome / position: 19:41224204
Cytoband: 19q13.2
HGVS: NM_025194.3(ITPKC):c.1155+9G>C
Allele change: Silent

Associated conditions / phenotypes

Kawasaki disease, susceptibility to

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.