Variant (rsID / SNP)

rs36076514

rs36076514 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to UGT1A1. Location: chromosome 2, position 234,677,012. Clinical significance in the table: Uncertain significance.

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Reference-table entries

UGT1A1Uncertain significance

Clinical significance (as recorded): Uncertain significance
Variant type: single nucleotide variant
Chromosome / position: 2:234677012
Cytoband: 2q37.1
HGVS: NM_000463.3(UGT1A1):c.1231G>T (p.Val411Leu)
Allele change: Missense_V408L

Associated conditions / phenotypes

Hyperbilirubinemia

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.