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rs1085307148

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;GCCCTGGCG) 6.2 Pulmonary arterial hypertension
(GCCCTGGCG;GCCCTGGCG) 0 common in clinvar
Chromosome2
Position202377495
GeneBMPR2
is asnp
is mentioned by
dbSNPrs1085307148
dbSNP (classic)rs1085307148
ClinGenrs1085307148
ebirs1085307148
HLIrs1085307148
Exacrs1085307148
Gnomadrs1085307148
Varsomers1085307148
LitVarrs1085307148
Maprs1085307148
PheGenIrs1085307148
Biobankrs1085307148
1000 genomesrs1085307148
hgdprs1085307148
ensemblrs1085307148
geneviewrs1085307148
scholarrs1085307148
googlers1085307148
pharmgkbrs1085307148
gwascentralrs1085307148
openSNPrs1085307148
23andMers1085307148
SNPshotrs1085307148
SNPdbers1085307148
MSV3drs1085307148
GWAS Ctlgrs1085307148
Max Magnitude6.2
ClinVar
Risk rs1085307148(A;A)
Alt rs1085307148(A;A)
Reference Rs1085307148(GCCCTGGCG;GCCCTGGCG)
Significance Pathogenic
Disease Primary pulmonary hypertension
Variation info
Gene BMPR2
CLNDBN Primary pulmonary hypertension
Reversed 0
HGVS NC_000002.11:g.203242218_203242226delGCCCTGGCGinsA
CLNSRC
CLNACC RCV000488857.1,