Variant (rsID / SNP)

rs200004068

rs200004068 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SMAD6. Location: chromosome 15, position 67,004,029. Clinical significance in the table: Likely benign.

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Reference-table entries

SMAD6Likely benign

Clinical significance (as recorded): Likely benign
Variant type: single nucleotide variant
Chromosome / position: 15:67004029
Cytoband: 15q22.31
HGVS: NM_005585.5(SMAD6):c.841C>G (p.Arg281Gly)
Allele change: Silent

Associated conditions / phenotypes

Aortic valve disease 2

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.