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rs1085307249

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(AAGG;TT) 6.2 Pulmonary arterial hypertension
(TT;TT) 0 common in clinvar
Chromosome2
Position202518864
GeneBMPR2
is asnp
is mentioned by
dbSNPrs1085307249
dbSNP (classic)rs1085307249
ClinGenrs1085307249
ebirs1085307249
HLIrs1085307249
Exacrs1085307249
Gnomadrs1085307249
Varsomers1085307249
LitVarrs1085307249
Maprs1085307249
PheGenIrs1085307249
Biobankrs1085307249
1000 genomesrs1085307249
hgdprs1085307249
ensemblrs1085307249
geneviewrs1085307249
scholarrs1085307249
googlers1085307249
pharmgkbrs1085307249
gwascentralrs1085307249
openSNPrs1085307249
23andMers1085307249
SNPshotrs1085307249
SNPdbers1085307249
MSV3drs1085307249
GWAS Ctlgrs1085307249
Max Magnitude6.2
ClinVar
Risk rs1085307249(AAGG;AAGG)
Alt rs1085307249(AAGG;AAGG)
Reference Rs1085307249(TT;TT)
Significance Pathogenic
Disease Primary pulmonary hypertension
Variation info
Gene BMPR2
CLNDBN Primary pulmonary hypertension
Reversed 0
HGVS NC_000002.11:g.203383587_203383588delTTinsAAGG
CLNSRC
CLNACC RCV000488685.1,