Variant (rsID / SNP)

rs116742917

rs116742917 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SLC2A9. Location: chromosome 4, position 9,909,926. Clinical significance in the table: Benign.

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Reference-table entries

SLC2A9Benign

Clinical significance (as recorded): Benign
Variant type: single nucleotide variant
Chromosome / position: 4:9909926
Cytoband: 4p16.1
HGVS: NM_020041.3(SLC2A9):c.1046C>T (p.Pro349Leu)
Allele change: Missense_P349L

Associated conditions / phenotypes

Hypouricemia, renal, 2

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.