Variant (rsID / SNP)

rs148458820

rs148458820 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ABCB6. Location: chromosome 2, position 220,081,525. Clinical significance in the table: Affects.

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Reference-table entries

ABCB6Other

Clinical significance (as recorded): Affects
Variant type: single nucleotide variant
Chromosome / position: 2:220081525
Cytoband: 2q35
HGVS: NM_005689.4(ABCB6):c.717G>A (p.Trp239Ter)
Allele change: Nonsense_W239X

Associated conditions / phenotypes

Langereis blood group

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.