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rs363811

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs363811(A;A)
Make rs363811(A;G)
ReferenceGRCh38.p2 38.2/146
Chromosome15
Position48421982
GeneFBN1
is asnp
is mentioned by
dbSNPrs363811
dbSNP (old)rs363811
ClinGenrs363811
ebirs363811
HLIrs363811
Exacrs363811
Gnomadrs363811
Varsomers363811
Maprs363811
PheGenIrs363811
Biobankrs363811
1000 genomesrs363811
hgdprs363811
ensemblrs363811
gopubmedrs363811
geneviewrs363811
scholarrs363811
googlers363811
pharmgkbrs363811
gwascentralrs363811
openSNPrs363811
23andMers363811
23andMe allrs363811
SNP Nexus

SNPshotrs363811
SNPdbers363811
MSV3drs363811
GWAS Ctlgrs363811
Max Magnitude0
? (A;A) (A;G) (G;G) 28
ClinVar
Risk rs363811(A;A)
Alt rs363811(A;A)
Reference Rs363811(G;G)
Significance Probable-Pathogenic
Disease not specified Marfan syndrome Thoracic aortic aneurysm and aortic dissection
Variation info
Gene FBN1
CLNDBN not specified Marfan syndrome Thoracic aortic aneurysm and aortic dissection
Reversed 1
HGVS NC_000015.9:g.48714179C>T
CLNSRC
CLNACC RCV000154717.2, RCV000208039.1, RCV000245416.1, RCV000470522.1,