Variant (rsID / SNP)

rs104894669

rs104894669 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to BSG. Location: chromosome 19, position 580,428. Clinical significance in the table: Affects.

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Reference-table entries

BSGOther

Clinical significance (as recorded): Affects
Variant type: single nucleotide variant
Chromosome / position: 19:580428
Cytoband: 19p13.3
HGVS: NM_001728.4(BSG):c.622G>A (p.Glu208Lys)
Allele change: Missense_E28K

Associated conditions / phenotypes

BLOOD GROUP--OK

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.