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rs137852743

From SNPedia

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


Make rs137852743(G;G)
ReferenceGRCh38 38.1/141
Chromosome2
Position202467625
GeneBMPR2
is asnp
is mentioned by
dbSNPrs137852743
dbSNP (classic)rs137852743
ClinGenrs137852743
ebirs137852743
HLIrs137852743
Exacrs137852743
Gnomadrs137852743
Varsomers137852743
LitVarrs137852743
Maprs137852743
PheGenIrs137852743
Biobankrs137852743
1000 genomesrs137852743
hgdprs137852743
ensemblrs137852743
geneviewrs137852743
scholarrs137852743
googlers137852743
pharmgkbrs137852743
gwascentralrs137852743
openSNPrs137852743
23andMers137852743
SNPshotrs137852743
SNPdbers137852743
MSV3drs137852743
GWAS Ctlgrs137852743
Max Magnitude6.2

aka c.354T>G (p.Cys118Trp)

23andMe name: i5005629

OMIM600799
Desc
Variant0005
Relatedalso
ClinVar
Risk rs137852743(G;G)
Alt rs137852743(G;G)
Reference Rs137852743(T;T)
Significance Pathogenic
Disease Primary pulmonary hypertension
Variation info
Gene BMPR2
CLNDBN Primary pulmonary hypertension
Reversed 0
HGVS NC_000002.11:g.203332348T>G
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000009344.3,