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rs397515782

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs397515782(G;T)
Make rs397515782(T;T)
ReferenceGRCh38 38.1/141
Chromosome15
Position48610775
GeneFBN1
is asnp
is mentioned by
dbSNPrs397515782
ebirs397515782
HLIrs397515782
Exacrs397515782
Varsomers397515782
Maprs397515782
PheGenIrs397515782
hapmaprs397515782
1000 genomesrs397515782
hgdprs397515782
ensemblrs397515782
gopubmedrs397515782
geneviewrs397515782
scholarrs397515782
googlers397515782
pharmgkbrs397515782
gwascentralrs397515782
openSNPrs397515782
23andMers397515782
23andMe allrs397515782
SNP Nexus

SNPshotrs397515782
SNPdbers397515782
MSV3drs397515782
GWAS Ctlgrs397515782
Max Magnitude0
ClinVar
Risk rs397515782(T;T)
Alt rs397515782(T;T)
Reference rs397515782(G;G)
Significance Probable-Pathogenic
Disease Marfan syndrome
Variation info
Gene FBN1
CLNDBN Marfan syndrome
Reversed 1
HGVS NC_000015.9:g.48902972C>A; NC_000015.9:g.48902972C>T
CLNSRC ClinVar
CLNACC RCV000035157.2, RCV000220364.1,