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rs137852753

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs137852753(C;T)
Make rs137852753(T;T)
ReferenceGRCh38 38.1/141
Chromosome2
Position202518831
GeneBMPR2
is asnp
is mentioned by
dbSNPrs137852753
ebirs137852753
HLIrs137852753
Exacrs137852753
Varsomers137852753
Maprs137852753
PheGenIrs137852753
hapmaprs137852753
1000 genomesrs137852753
hgdprs137852753
ensemblrs137852753
gopubmedrs137852753
geneviewrs137852753
scholarrs137852753
googlers137852753
pharmgkbrs137852753
gwascentralrs137852753
openSNPrs137852753
23andMers137852753
23andMe allrs137852753
SNP Nexus

SNPshotrs137852753
SNPdbers137852753
MSV3drs137852753
GWAS Ctlgrs137852753
Max Magnitude0
OMIM600799
Desc
Variant0019
Relatedalso
ClinVar
Risk rs137852753(T;T)
Alt rs137852753(T;T)
Reference rs137852753(C;C)
Significance Pathogenic
Disease Primary pulmonary hypertension Pulmonary hypertension not provided
Variation info
Gene BMPR2
CLNDBN Primary pulmonary hypertension Pulmonary hypertension, primary, dexfenfluramine-associated not provided
Reversed 0
HGVS NC_000002.11:g.203383554C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000009357.2, RCV000009358.3, RCV000197776.2,