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rs137852756

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
(C;T) 4
Make rs137852756(T;T)
ReferenceGRCh38 38.1/141
Chromosome2
Position202542331
GeneBMPR2
is asnp
is mentioned by
dbSNPrs137852756
ebirs137852756
HLIrs137852756
Exacrs137852756
Varsomers137852756
Maprs137852756
PheGenIrs137852756
hapmaprs137852756
1000 genomesrs137852756
hgdprs137852756
ensemblrs137852756
gopubmedrs137852756
geneviewrs137852756
scholarrs137852756
googlers137852756
pharmgkbrs137852756
gwascentralrs137852756
openSNPrs137852756
23andMers137852756
23andMe allrs137852756
SNP Nexus

SNPshotrs137852756
SNPdbers137852756
MSV3drs137852756
GWAS Ctlgrs137852756
Max Magnitude4
OMIM600799
Desc
Variant0026
Relatedalso
ClinVar
Risk rs137852756(T;T)
Alt rs137852756(T;T)
Reference rs137852756(C;C)
Significance Pathogenic
Disease Pulmonary hypertension
Variation info
Gene BMPR2
CLNDBN Pulmonary hypertension, primary, 1, with hereditary hemorrhagic telangiectasia
Reversed 0
HGVS NC_000002.11:g.203407054C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000009367.3,