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rs137852742

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
(C;G) 6.2 Pulmonary arterial hypertension
Make rs137852742(G;G)
ReferenceGRCh38 38.1/141
Chromosome2
Position202464950
GeneBMPR2
is asnp
is mentioned by
dbSNPrs137852742
dbSNP (classic)rs137852742
ClinGenrs137852742
ebirs137852742
HLIrs137852742
Exacrs137852742
Gnomadrs137852742
Varsomers137852742
LitVarrs137852742
Maprs137852742
PheGenIrs137852742
Biobankrs137852742
1000 genomesrs137852742
hgdprs137852742
ensemblrs137852742
geneviewrs137852742
scholarrs137852742
googlers137852742
pharmgkbrs137852742
gwascentralrs137852742
openSNPrs137852742
23andMers137852742
SNPshotrs137852742
SNPdbers137852742
MSV3drs137852742
GWAS Ctlgrs137852742
Max Magnitude6.2
OMIM600799
Desc
Variant0003
Relatedalso
ClinVar
Risk rs137852742(G;G)
Alt rs137852742(G;G)
Reference Rs137852742(C;C)
Significance Pathogenic
Disease Primary pulmonary hypertension
Variation info
Gene BMPR2
CLNDBN Primary pulmonary hypertension
Reversed 0
HGVS NC_000002.11:g.203329673C>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000009342.2,