Variant (rsID / SNP)

rs515071

rs515071 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ANK1. Location: chromosome 8, position 41,519,462. Clinical significance in the table: Benign.

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Reference-table entries

ANK1Benign

Clinical significance (as recorded): Benign
Variant type: single nucleotide variant
Chromosome / position: 8:41519462
Cytoband: 8p11.21
HGVS: NM_000037.4(ANK1):c.5479-3T>C
Allele change: Silent

Associated conditions / phenotypes

Hereditary spherocytosis type 1|Spherocytosis

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.