Variant (rsID / SNP)

rs28933076

rs28933076 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to HBD. Location: chromosome 11, position 5,255,241. Clinical significance in the table: other.

ShareE-Mail WhatsApp LinkedIn X Facebook Telegram

Reference-table entries

HBDOther

Clinical significance (as recorded): other
Variant type: single nucleotide variant
Chromosome / position: 11:5255241
Cytoband: 11p15.4
HGVS: NM_000519.4(HBD):c.295G>A (p.Val99Met)
Allele change: Missense_V99M

Associated conditions / phenotypes

HEMOGLOBIN A(2) WRENS

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.