Variant (rsID / SNP)

rs147673485

rs147673485 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to IL21R. Location: chromosome 16, position 27,455,960. Clinical significance in the table: Uncertain significance.

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Reference-table entries

IL21RUncertain significance

Clinical significance (as recorded): Uncertain significance
Variant type: single nucleotide variant
Chromosome / position: 16:27455960
Cytoband: 16p12.1
HGVS: NM_181078.3(IL21R):c.605C>T (p.Ala202Val)
Allele change: Missense_A224V

Associated conditions / phenotypes

Cryptosporidiosis-chronic cholangitis-liver disease syndrome

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.