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rs137852747

From SNPedia

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


Make rs137852747(A;A)
ReferenceGRCh38 38.1/141
Chromosome2
Position202513807
GeneBMPR2
is asnp
is mentioned by
dbSNPrs137852747
dbSNP (classic)rs137852747
ClinGenrs137852747
ebirs137852747
HLIrs137852747
Exacrs137852747
Gnomadrs137852747
Varsomers137852747
LitVarrs137852747
Maprs137852747
PheGenIrs137852747
Biobankrs137852747
1000 genomesrs137852747
hgdprs137852747
ensemblrs137852747
geneviewrs137852747
scholarrs137852747
googlers137852747
pharmgkbrs137852747
gwascentralrs137852747
openSNPrs137852747
23andMers137852747
SNPshotrs137852747
SNPdbers137852747
MSV3drs137852747
GWAS Ctlgrs137852747
Max Magnitude6.2
OMIM600799
Desc
Variant0011
Relatedalso
ClinVar
Risk rs137852747(A;A)
Alt rs137852747(A;A)
Reference Rs137852747(C;C)
Significance Pathogenic
Disease Primary pulmonary hypertension
Variation info
Gene BMPR2
CLNDBN Primary pulmonary hypertension
Reversed 0
HGVS NC_000002.11:g.203378530C>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000009349.3,