Variant (rsID / SNP)

rs148682262

rs148682262 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to BMPR2. Location: chromosome 2, position 203,383,597. Clinical significance in the table: Benign.

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Reference-table entries

BMPR2Benign

Clinical significance (as recorded): Benign
Variant type: single nucleotide variant
Chromosome / position: 2:203383597
Cytoband: 2q33.2
HGVS: NM_001204.7(BMPR2):c.674G>A (p.Arg225His)
Allele change: Missense_R225H

Associated conditions / phenotypes

Pulmonary hypertension, primary, 1|Primary pulmonary 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.