Variant (rsID / SNP)

rs1800028

rs1800028 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to FUT2. Location: chromosome 19, position 49,206,817. Clinical significance in the table: Pathogenic.

ShareE-Mail WhatsApp LinkedIn X Facebook Telegram

Reference-table entries

FUT2Pathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Chromosome / position: 19:49206817
Cytoband: 19q13.33
HGVS: NM_000511.6(FUT2):c.604C>T (p.Arg202Ter)
Allele change: Nonsense_R202X

Associated conditions / phenotypes

Vitamin b12 plasma level quantitative trait locus 1|Familial Otitis Media

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.