rs863223423

A SNP in the BMPR2 gene on chromosome 2. Its most notable genotype is -;A: Pulmonary arterial hypertension

Gene
BMPR2
Location
Chr 2202,464,918 (GRCh38)
Highest magnitude
6.2Very important
Tested on
AncestryDNA

Genotypes

As shown in 23andMe and AncestryDNA files.

  1. -;-Goodcommon in clinvarTypical · 0.0
  2. -;AMost notableBadPulmonary arterial hypertensionVery important · 6.2
  3. -;TACCBadPulmonary arterial hypertensionVery important · 6.2

On SNPedia: (-;-), (-;A), (-;TACC). Magnitude rates how notable a genotype is from 0 to 10, not how risky it is.

Other BMPR2 SNPs

All BMPR2 SNPs

Notes

From SNPedia

Notes

rs863223423 refers to both c.186dupA (p.Gly63Argfs) as well as c.186_187insTACC (p.G63Yfs*3), even though they are quite different mutations. Both are considered pathogenic in ClinVar for familial pulmonary arterial hypertension. Due to the ambiguity in naming, when a direct-to-consumer genotyping company returns a result of rs863223423(D;I), it is unclear which mutation is being reported. For simplicity's sake, SNPedia is assuming it is the "simpler" mutation, i.e. c.186dupA, but be aware there is no evidence for this, and to our knowledge, no company has publicly stated what their DNA chip actually tests at this position.

Source and license

Adapted from rs863223423 on SNPedia, using a snapshot taken October 16, 2026. SNPedia content is shared under CC BY-NC-SA 3.0 US, and this page is shared under the same license.

SNPedia is a community-edited wiki. Its entries can be incomplete, out of date or wrong, and nothing here is a diagnosis or medical advice. Magnitude is a community rating of how interesting a genotype is, not a risk score.