Variant (rsID / SNP)

rs2688

rs2688 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to HNF1B. Location: chromosome 17, position 36,046,931. Clinical significance in the table: Benign.

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Reference-table entries

HNF1BBenign

Clinical significance (as recorded): Benign
Variant type: single nucleotide variant
Chromosome / position: 17:36046931
Cytoband: 17q12
HGVS: NM_000458.4(HNF1B):c.*444=
Allele change: Silent

Associated conditions / phenotypes

Renal cysts and diabetes 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.