Variant (rsID / SNP)

rs149868979

rs149868979 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SCNN1B. Location: chromosome 16, position 23,391,887. Clinical significance in the table: Likely pathogenic.

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Reference-table entries

SCNN1BLikely pathogenic

Clinical significance (as recorded): Likely pathogenic
Variant type: single nucleotide variant
Chromosome / position: 16:23391887
Cytoband: 16p12.2
HGVS: NM_000336.3(SCNN1B):c.1688G>A (p.Arg563Gln)
Allele change: Missense_R563Q

Associated conditions / phenotypes

Low renin, low aldosterone hypertension

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.