Have questions? Visit https://www.reddit.com/r/SNPedia

rs397515786

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;G) 6.5 Familial thoracic aortic aneurysms and dissections (FTAAD)
(G;G) 0 common in clinvar


Make rs397515786(A;A)
ReferenceGRCh38 38.1/141
Chromosome15
Position48488412
GeneFBN1
is asnp
is mentioned by
dbSNPrs397515786
dbSNP (classic)rs397515786
ClinGenrs397515786
ebirs397515786
HLIrs397515786
Exacrs397515786
Gnomadrs397515786
Varsomers397515786
LitVarrs397515786
Maprs397515786
PheGenIrs397515786
Biobankrs397515786
1000 genomesrs397515786
hgdprs397515786
ensemblrs397515786
geneviewrs397515786
scholarrs397515786
googlers397515786
pharmgkbrs397515786
gwascentralrs397515786
openSNPrs397515786
23andMers397515786
SNPshotrs397515786
SNPdbers397515786
MSV3drs397515786
GWAS Ctlgrs397515786
Max Magnitude6.5
ClinVar
Risk rs397515786(A;A)
Alt rs397515786(A;A)
Reference Rs397515786(G;G)
Significance Pathogenic
Disease Marfan syndrome
Variation info
Gene FBN1
CLNDBN Marfan syndrome
Reversed 1
HGVS NC_000015.9:g.48780609C>T
CLNSRC ClinVar
CLNACC RCV000035163.2,