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rs483352902

From SNPedia

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


Make rs483352902(-;-)
ReferenceGRCh38 38.1/142
Chromosome2
Position202377518
GeneBMPR2
is asnp
is mentioned by
dbSNPrs483352902
dbSNP (classic)rs483352902
ClinGenrs483352902
ebirs483352902
HLIrs483352902
Exacrs483352902
Gnomadrs483352902
Varsomers483352902
LitVarrs483352902
Maprs483352902
PheGenIrs483352902
Biobankrs483352902
1000 genomesrs483352902
hgdprs483352902
ensemblrs483352902
geneviewrs483352902
scholarrs483352902
googlers483352902
pharmgkbrs483352902
gwascentralrs483352902
openSNPrs483352902
23andMers483352902
SNPshotrs483352902
SNPdbers483352902
MSV3drs483352902
GWAS Ctlgrs483352902
Max Magnitude6.2
ClinVar
Risk rs483352902(-;-)
Alt rs483352902(-;-)
Reference Rs483352902(C;C)
Significance Pathogenic
Disease Primary pulmonary hypertension Pulmonary venoocclusive disease 1
Variation info
Gene BMPR2
CLNDBN Primary pulmonary hypertension Pulmonary venoocclusive disease 1
Reversed 0
HGVS NC_000002.11:g.203242241delC
CLNSRC OMIM Allelic Variant
CLNACC RCV000009360.4, RCV000083304.3,