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rs587777017

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs587777017(-;-)
Make rs587777017(-;A)
ReferenceGRCh38 38.1/142
Chromosome7
Position116559224
GeneCAV1
is asnp
is mentioned by
dbSNPrs587777017
ebirs587777017
HLIrs587777017
Exacrs587777017
Varsomers587777017
Maprs587777017
PheGenIrs587777017
hapmaprs587777017
1000 genomesrs587777017
hgdprs587777017
ensemblrs587777017
gopubmedrs587777017
geneviewrs587777017
scholarrs587777017
googlers587777017
pharmgkbrs587777017
gwascentralrs587777017
openSNPrs587777017
23andMers587777017
23andMe allrs587777017
SNP Nexus

SNPshotrs587777017
SNPdbers587777017
MSV3drs587777017
GWAS Ctlgrs587777017
Max Magnitude0
ClinVar
Risk rs587777017(;)
Alt rs587777017(;)
Reference rs587777017(A;A)
Significance Pathogenic
Disease Primary pulmonary hypertension 3
Variation info
Gene CAV1
CLNDBN Primary pulmonary hypertension 3
Reversed 0
HGVS NC_000007.13:g.116199278delA
CLNSRC OMIM Allelic Variant
CLNACC RCV000050248.4,