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rs1085307250

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(-;CGTCCAG) 6.2 Pulmonary arterial hypertension
(AGCGTCC;AGCGTCC) 0 common in clinvar
(CGTCCAG;CGTCCAG) 0 common/normal
Chromosome2
Position202518873
GeneBMPR2
is asnp
is mentioned by
dbSNPrs1085307250
dbSNP (classic)rs1085307250
ClinGenrs1085307250
ebirs1085307250
HLIrs1085307250
Exacrs1085307250
Gnomadrs1085307250
Varsomers1085307250
LitVarrs1085307250
Maprs1085307250
PheGenIrs1085307250
Biobankrs1085307250
1000 genomesrs1085307250
hgdprs1085307250
ensemblrs1085307250
geneviewrs1085307250
scholarrs1085307250
googlers1085307250
pharmgkbrs1085307250
gwascentralrs1085307250
openSNPrs1085307250
23andMers1085307250
SNPshotrs1085307250
SNPdbers1085307250
MSV3drs1085307250
GWAS Ctlgrs1085307250
Max Magnitude6.2
ClinVar
Risk rs1085307250(-;-)
Alt rs1085307250(-;-)
Reference Rs1085307250(AGCGTCC;AGCGTCC)
Significance Pathogenic
Disease Primary pulmonary hypertension
Variation info
Gene BMPR2
CLNDBN Primary pulmonary hypertension
Reversed 0
HGVS NC_000002.11:g.203383596_203383602delCGTCCAG
CLNSRC
CLNACC RCV000488864.1,