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rs397515818

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs397515818(C;C)
Make rs397515818(C;G)
ReferenceGRCh38 38.1/141
Chromosome15
Position48596324
GeneFBN1
is asnp
is mentioned by
dbSNPrs397515818
ebirs397515818
HLIrs397515818
Exacrs397515818
Varsomers397515818
Maprs397515818
PheGenIrs397515818
hapmaprs397515818
1000 genomesrs397515818
hgdprs397515818
ensemblrs397515818
gopubmedrs397515818
geneviewrs397515818
scholarrs397515818
googlers397515818
pharmgkbrs397515818
gwascentralrs397515818
openSNPrs397515818
23andMers397515818
23andMe allrs397515818
SNP Nexus

SNPshotrs397515818
SNPdbers397515818
MSV3drs397515818
GWAS Ctlgrs397515818
Max Magnitude0
ClinVar
Risk rs397515818(C;C)
Alt rs397515818(C;C)
Reference rs397515818(G;G)
Significance Probable-Pathogenic
Disease Marfan syndrome
Variation info
Gene FBN1
CLNDBN Marfan syndrome
Reversed 1
HGVS NC_000015.9:g.48888521C>G
CLNSRC ClinVar
CLNACC RCV000035218.2,