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rs397515812

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs397515812(C;T)
Make rs397515812(T;T)
ReferenceGRCh38 38.1/141
Chromosome15
Position48468427
GeneFBN1
is asnp
is mentioned by
dbSNPrs397515812
ebirs397515812
HLIrs397515812
Exacrs397515812
Varsomers397515812
Maprs397515812
PheGenIrs397515812
hapmaprs397515812
1000 genomesrs397515812
hgdprs397515812
ensemblrs397515812
gopubmedrs397515812
geneviewrs397515812
scholarrs397515812
googlers397515812
pharmgkbrs397515812
gwascentralrs397515812
openSNPrs397515812
23andMers397515812
23andMe allrs397515812
SNP Nexus

SNPshotrs397515812
SNPdbers397515812
MSV3drs397515812
GWAS Ctlgrs397515812
Max Magnitude0
ClinVar
Risk rs397515812(T;T)
Alt rs397515812(T;T)
Reference rs397515812(C;C)
Significance Probable-Pathogenic
Disease Marfan syndrome
Variation info
Gene FBN1
CLNDBN Marfan syndrome
Reversed 1
HGVS NC_000015.9:g.48760624G>A
CLNSRC ClinVar
CLNACC RCV000035205.2,