rs863223423
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(-;-) | 0 | common in clinvar |
(-;A) | 6.2 | Pulmonary arterial hypertension |
(-;TACC) | 6.2 | Pulmonary arterial hypertension |
Make rs863223423(A;A) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 2 |
Position | 202464918 |
Gene | BMPR2 |
is a | snp |
is | mentioned by |
dbSNP | rs863223423 |
dbSNP (classic) | rs863223423 |
ClinGen | rs863223423 |
ebi | rs863223423 |
HLI | rs863223423 |
Exac | rs863223423 |
Gnomad | rs863223423 |
Varsome | rs863223423 |
LitVar | rs863223423 |
Map | rs863223423 |
PheGenI | rs863223423 |
Biobank | rs863223423 |
1000 genomes | rs863223423 |
hgdp | rs863223423 |
ensembl | rs863223423 |
geneview | rs863223423 |
scholar | rs863223423 |
rs863223423 | |
pharmgkb | rs863223423 |
gwascentral | rs863223423 |
openSNP | rs863223423 |
23andMe | rs863223423 |
SNPshot | rs863223423 |
SNPdbe | rs863223423 |
MSV3d | rs863223423 |
GWAS Ctlg | rs863223423 |
Max Magnitude | 6.2 |
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.
ClinVar | |
---|---|
Risk | rs863223423(A;A) rs863223423(TACC;TACC) |
Alt | rs863223423(A;A) rs863223423(TACC;TACC) |
Reference | Rs863223423(-;-) |
Significance | Pathogenic |
Disease | Primary pulmonary hypertension not provided |
Variation | info |
Gene | BMPR2 |
CLNDBN | Primary pulmonary hypertension not provided |
Reversed | 0 |
HGVS | NC_000002.11:g.203329641_203329642insTACC; NC_000002.11:g.203329641dupA |
CLNSRC | |
CLNACC | RCV000488633.1, RCV000198060.1, |