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rs137852749

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;G) 6.2 Pulmonary arterial hypertension
(G;G) 0 common in clinvar


Make rs137852749(A;A)
ReferenceGRCh38 38.1/141
Chromosome2
Position202552774
GeneBMPR2
is asnp
is mentioned by
dbSNPrs137852749
dbSNP (classic)rs137852749
ClinGenrs137852749
ebirs137852749
HLIrs137852749
Exacrs137852749
Gnomadrs137852749
Varsomers137852749
LitVarrs137852749
Maprs137852749
PheGenIrs137852749
Biobankrs137852749
1000 genomesrs137852749
hgdprs137852749
ensemblrs137852749
geneviewrs137852749
scholarrs137852749
googlers137852749
pharmgkbrs137852749
gwascentralrs137852749
openSNPrs137852749
23andMers137852749
23andMe allrs137852749
SNPshotrs137852749
SNPdbers137852749
MSV3drs137852749
GWAS Ctlgrs137852749
Max Magnitude6.2

aka c.1472G>A (p.Arg491Gln)

Known to have reduced penetrance; a 2019 article suggests that as-yet-unidentified variants in a nearby gene, FIGN, may be needed to bring about pulmonary arterial hypertension.[PMID 30894412]

23andMe name: i5005635

OMIM600799
Desc
Variant0013
Relatedalso
ClinVar
Risk rs137852749(A;A)
Alt rs137852749(A;A)
Reference Rs137852749(G;G)
Significance Pathogenic
Disease Primary pulmonary hypertension
Variation info
Gene BMPR2
CLNDBN Primary pulmonary hypertension
Reversed 0
HGVS NC_000002.11:g.203417497G>A
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000009351.4,