Variant (rsID / SNP)

rs201566028

rs201566028 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to IL21R. Location: chromosome 16, position 27,455,970. 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: 16:27455970
Cytoband: 16p12.1
HGVS: NM_181078.3(IL21R):c.615G>C (p.Met205Ile)
Allele change: Missense_M227I

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.