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rs587780295

From SNPedia

Orientationplus
Geno Mag Summary
(TT;TT) 0 common in clinvar
Make rs587780295(A;A)
Make rs587780295(A;TT)
ReferenceGRCh38.p2 38.2/144
Chromosome7
Position116559151
GeneCAV1
is asnp
is mentioned by
dbSNPrs587780295
ebirs587780295
HLIrs587780295
Exacrs587780295
Varsomers587780295
Maprs587780295
PheGenIrs587780295
hapmaprs587780295
1000 genomesrs587780295
hgdprs587780295
ensemblrs587780295
gopubmedrs587780295
geneviewrs587780295
scholarrs587780295
googlers587780295
pharmgkbrs587780295
gwascentralrs587780295
openSNPrs587780295
23andMers587780295
23andMe allrs587780295
SNP Nexus

SNPshotrs587780295
SNPdbers587780295
MSV3drs587780295
GWAS Ctlgrs587780295
Max Magnitude0
ClinVar
Risk rs587780295(A;A)
Alt rs587780295(A;A)
Reference rs587780295(TT;TT)
Significance Pathogenic
Disease Primary pulmonary hypertension 3
Variation info
Gene CAV1
CLNDBN Primary pulmonary hypertension 3
Reversed 0
HGVS NC_000007.13:g.116199205_116199206delTTinsA
CLNSRC
CLNACC RCV000116581.1,