Variant (rsID / SNP)

rs72552713

rs72552713 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ABCG2. Location: chromosome 4, position 89,052,957. Clinical significance in the table: association.

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Reference-table entries

ABCG2Association

Clinical significance (as recorded): association
Variant type: single nucleotide variant
Chromosome / position: 4:89052957
Cytoband: 4q22.1
HGVS: NM_004827.3(ABCG2):c.376C>T (p.Gln126Ter)
Allele change: Nonsense_Q126X

Associated conditions / phenotypes

Blood group, Junior system|Uric acid concentration, serum, quantitative trait locus 1

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.