Variant (rsID / SNP)

rs1169288

rs1169288 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to HNF1A. Location: chromosome 12, position 121,416,650. Clinical significance in the table: Benign.

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Reference-table entries

HNF1ABenign

Clinical significance (as recorded): Benign
Variant type: single nucleotide variant
Chromosome / position: 12:121416650
Cytoband: 12q24.31
HGVS: NM_000545.8(HNF1A):c.79A>C (p.Ile27Leu)
Allele change: Missense_I27L

Associated conditions / phenotypes

Insulin resistance, susceptibility to|SERUM HDL CHOLESTEROL LEVEL, MODIFIER OF|Maturity-onset diabetes of the young type 3|Type 2 diabetes mellitus

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.