Variant (rsID / SNP)

rs8330

rs8330 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to UGT1A1, UGT1A10. Location: chromosome 2, position 234,681,645. Clinical significance in the table: Benign/Likely benign.

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Reference-table entries

UGT1A1Benign

Clinical significance (as recorded): Benign/Likely benign
Variant type: single nucleotide variant
Chromosome / position: 2:234681645
Cytoband: 2q37.1
HGVS: NM_000463.3(UGT1A1):c.*440G>C
Allele change: Silent

Associated conditions / phenotypes

Crigler-Najjar syndrome|Lucey-Driscoll syndrome|Gilbert syndrome

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.