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rs397515837

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs397515837(C;C)
Make rs397515837(C;T)
ReferenceGRCh38 38.1/141
Chromosome15
Position48432949
GeneFBN1
is asnp
is mentioned by
dbSNPrs397515837
ebirs397515837
HLIrs397515837
Exacrs397515837
Varsomers397515837
Maprs397515837
PheGenIrs397515837
hapmaprs397515837
1000 genomesrs397515837
hgdprs397515837
ensemblrs397515837
gopubmedrs397515837
geneviewrs397515837
scholarrs397515837
googlers397515837
pharmgkbrs397515837
gwascentralrs397515837
openSNPrs397515837
23andMers397515837
23andMe allrs397515837
SNP Nexus

SNPshotrs397515837
SNPdbers397515837
MSV3drs397515837
GWAS Ctlgrs397515837
Max Magnitude0
ClinVar
Risk rs397515837(C;C)
Alt rs397515837(C;C)
Reference rs397515837(T;T)
Significance Probable-Pathogenic
Disease not provided Marfan syndrome
Variation info
Gene FBN1
CLNDBN not provided Marfan syndrome
Reversed 1
HGVS NC_000015.9:g.48725146A>C; NC_000015.9:g.48725146A>G
CLNSRC ClinVar
CLNACC RCV000181703.1, RCV000035249.2,