Variant (rsID / SNP)

rs111748421

rs111748421 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SMAD9. Location: chromosome 13, position 37,453,762. Clinical significance in the table: Uncertain significance.

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Reference-table entries

SMAD9Uncertain significance

Clinical significance (as recorded): Uncertain significance
Variant type: single nucleotide variant
Chromosome / position: 13:37453762
Cytoband: 13q13.3
HGVS: NM_001127217.3(SMAD9):c.65T>C (p.Leu22Pro)
Allele change: Missense_L22P

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.