Variant (rsID / SNP)

rs33913712

rs33913712 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to HBB. Location: chromosome 11, position 5,247,851. Clinical significance in the table: Uncertain significance.

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Reference-table entries

HBBUncertain significance

Clinical significance (as recorded): Uncertain significance
Variant type: single nucleotide variant
Chromosome / position: 11:5247851
Cytoband: 11p15.4
HGVS: NM_000518.4(HBB):c.271G>A (p.Glu91Lys)
Allele change: Missense_E91K

Associated conditions / phenotypes

HEMOGLOBIN AGENOGI|beta Thalassemia

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.