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rs137852750

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs137852750(C;C)
Make rs137852750(C;T)
ReferenceGRCh38 38.1/141
Chromosome2
Position202467638
GeneBMPR2
is asnp
is mentioned by
dbSNPrs137852750
ebirs137852750
HLIrs137852750
Exacrs137852750
Varsomers137852750
Maprs137852750
PheGenIrs137852750
hapmaprs137852750
1000 genomesrs137852750
hgdprs137852750
ensemblrs137852750
gopubmedrs137852750
geneviewrs137852750
scholarrs137852750
googlers137852750
pharmgkbrs137852750
gwascentralrs137852750
openSNPrs137852750
23andMers137852750
23andMe allrs137852750
SNP Nexus

SNPshotrs137852750
SNPdbers137852750
MSV3drs137852750
GWAS Ctlgrs137852750
Max Magnitude0
OMIM600799
Desc
Variant0015
Relatedalso
OMIM600799
Desc
Variant0016
Relatedalso
ClinVar
Risk rs137852750(A,C;A,C)
Alt rs137852750(A,C;A,C)
Reference rs137852750(T;T)
Significance Pathogenic
Disease Primary pulmonary hypertension
Variation info
Gene BMPR2
CLNDBN Primary pulmonary hypertension
Reversed 0
HGVS NC_000002.11:g.203332361T>A; NC_000002.11:g.203332361T>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000009354.2, RCV000009353.2,