Variant (rsID / SNP)

rs78249575

rs78249575 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SMAD9. Location: chromosome 13, position 37,439,889. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

SMAD9Conflicting interpretations

Clinical significance (as recorded): Conflicting interpretations of pathogenicity
Variant type: single nucleotide variant
Chromosome / position: 13:37439889
Cytoband: 13q13.3
HGVS: NM_001127217.3(SMAD9):c.788G>A (p.Arg263Gln)
Allele change: Missense_R263Q

Associated conditions / phenotypes

Pulmonary hypertension, primary, 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.