Variant (rsID / SNP)

rs137852785

rs137852785 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to PDX1. Location: chromosome 13, position 28,494,327. Clinical significance in the table: Uncertain significance.

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Reference-table entries

PDX1Uncertain significance

Clinical significance (as recorded): Uncertain significance
Variant type: single nucleotide variant
Chromosome / position: 13:28494327
Cytoband: 13q12.2
HGVS: NM_000209.4(PDX1):c.52T>C (p.Cys18Arg)
Allele change: Missense_C18R

Associated conditions / phenotypes

Type 2 diabetes mellitus|Diabetes mellitus type 2, susceptibility to

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.