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rs1060502583

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs1060502583(A;C)
Make rs1060502583(C;C)
ReferenceGRCh38.p7 38.3/150
Chromosome2
Position202552811
GeneBMPR2
is asnp
is mentioned by
dbSNPrs1060502583
dbSNP (old)rs1060502583
ClinGenrs1060502583
ebirs1060502583
HLIrs1060502583
Exacrs1060502583
Gnomadrs1060502583
Varsomers1060502583
Maprs1060502583
PheGenIrs1060502583
Biobankrs1060502583
1000 genomesrs1060502583
hgdprs1060502583
ensemblrs1060502583
gopubmedrs1060502583
geneviewrs1060502583
scholarrs1060502583
googlers1060502583
pharmgkbrs1060502583
gwascentralrs1060502583
openSNPrs1060502583
23andMers1060502583
23andMe allrs1060502583
SNPshotrs1060502583
SNPdbers1060502583
MSV3drs1060502583
GWAS Ctlgrs1060502583
Max Magnitude0
ClinVar
Risk rs1060502583(C;C)
Alt rs1060502583(C;C)
Reference Rs1060502583(A;A)
Significance Pathogenic
Disease Primary pulmonary hypertension Pulmonary arterial hypertension associated with congenital heart disease
Variation info
Gene BMPR2
CLNDBN Primary pulmonary hypertension Pulmonary arterial hypertension associated with congenital heart disease
Reversed 0
HGVS NC_000002.11:g.203417534A>C
CLNSRC
CLNACC RCV000473484.1, RCV000488481.1,