Variant (rsID / SNP)

rs121918586

rs121918586 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to RHAG. Location: chromosome 6, position 49,586,997. Clinical significance in the table: Pathogenic.

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Reference-table entries

RHAGPathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Chromosome / position: 6:49586997
Cytoband: 6p12.3
HGVS: NM_000324.3(RHAG):c.236G>A (p.Ser79Asn)
Allele change: Missense_S79N

Associated conditions / phenotypes

Rh mod blood group phenotype

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.