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rs886039200

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs886039200(A;C)
Make rs886039200(C;C)
ReferenceGRCh38.p7 38.3/149
Chromosome5
Position128288559
GeneFBN2
is asnp
is mentioned by
dbSNPrs886039200
dbSNP (classic)rs886039200
ClinGenrs886039200
ebirs886039200
HLIrs886039200
Exacrs886039200
Gnomadrs886039200
Varsomers886039200
LitVarrs886039200
Maprs886039200
PheGenIrs886039200
Biobankrs886039200
1000 genomesrs886039200
hgdprs886039200
ensemblrs886039200
geneviewrs886039200
scholarrs886039200
googlers886039200
pharmgkbrs886039200
gwascentralrs886039200
openSNPrs886039200
23andMers886039200
SNPshotrs886039200
SNPdbers886039200
MSV3drs886039200
GWAS Ctlgrs886039200
Max Magnitude0
ClinVar
Risk rs886039200(C;C)
Alt rs886039200(C;C)
Reference Rs886039200(A;A)
Significance Probable-Pathogenic
Disease Thoracic aortic aneurysm and aortic dissection
Variation info
Gene FBN2
CLNDBN Thoracic aortic aneurysm and aortic dissection
Reversed 1
HGVS NC_000005.9:g.127624251T>G
CLNSRC
CLNACC RCV000241996.1,