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rs397515764

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs397515764(A;A)
Make rs397515764(A;G)
ReferenceGRCh38.p7 38.3/150
Chromosome15
Position48505139
GeneFBN1
is asnp
is mentioned by
dbSNPrs397515764
dbSNP (classic)rs397515764
ClinGenrs397515764
ebirs397515764
HLIrs397515764
Exacrs397515764
Gnomadrs397515764
Varsomers397515764
LitVarrs397515764
Maprs397515764
PheGenIrs397515764
Biobankrs397515764
1000 genomesrs397515764
hgdprs397515764
ensemblrs397515764
geneviewrs397515764
scholarrs397515764
googlers397515764
pharmgkbrs397515764
gwascentralrs397515764
openSNPrs397515764
23andMers397515764
SNPshotrs397515764
SNPdbers397515764
MSV3drs397515764
GWAS Ctlgrs397515764
Max Magnitude0
ClinVar
Risk rs397515764(A;A)
Alt rs397515764(A;A)
Reference Rs397515764(G;G)
Significance Probable-Pathogenic
Disease not specified Marfan syndrome Thoracic aortic aneurysm and aortic dissection not provided
Variation info
Gene FBN1
CLNDBN not specified Marfan syndrome Thoracic aortic aneurysm and aortic dissection not provided
Reversed 1
HGVS NC_000015.9:g.48797336C>T
CLNSRC
CLNACC RCV000035128.2, RCV000459707.1, RCV000493016.1,