Variant (rsID / SNP)

rs137853337

rs137853337 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to HNF4A. Location: chromosome 20, position 43,057,049. Clinical significance in the table: Uncertain significance.

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Reference-table entries

HNF4AUncertain significance

Clinical significance (as recorded): Uncertain significance
Variant type: single nucleotide variant
Chromosome / position: 20:43057049
Cytoband: 20q13.12
HGVS: NM_175914.5(HNF4A):c.1138G>A (p.Val380Ile)
Allele change: Missense_V380I

Associated conditions / phenotypes

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.